| Year |
Citation |
Score |
| 2020 |
Beheshtian M, Akhtarkhavari T, Mehvari S, Mohseni M, Fattahi Z, Abedini SS, Arzhangi S, Fadaee M, Jamali P, Najafipour R, Kalscheuer VM, Hu H, Ropers HH, Najmabadi H, Kahrizi K. Comprehensive Genotype-Phenotype Correlation in AP-4 Deficiency Syndrome; Adding Data from a Large Cohort of Iranian Patients. Clinical Genetics. PMID 32895917 DOI: 10.1111/cge.13845 |
0.38 |
|
| 2020 |
Mehvari S, Larti F, Hu H, Fattahi Z, Beheshtian M, Abedini SS, Arzhangi S, Ropers HH, Kalscheuer VM, Auld D, Kahrizi K, Riazalhosseini Y, Najmabadi H. Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability. Molecular Genetics & Genomic Medicine. e1418. PMID 32715656 DOI: 10.1002/Mgg3.1418 |
0.45 |
|
| 2019 |
Mitani T, Punetha J, Akalin I, Pehlivan D, Dawidziuk M, Coban Akdemir Z, Yilmaz S, Aslan E, Hunter JV, Hijazi H, Grochowski CM, Jhangiani SN, Karaca E, Fatih JM, Iwanowski P, ... ... Ropers HH, et al. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. American Journal of Human Genetics. PMID 31630790 DOI: 10.1016/J.Ajhg.2019.09.017 |
0.337 |
|
| 2019 |
von der Hagen M, Becker LL, Wienker TF, Smitka M, Musante L, Ropers HH, Huebner A, Hu H, Kaindl AM. Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders. Neuropediatrics. PMID 31627234 DOI: 10.1055/s-0039-1695787 |
0.374 |
|
| 2019 |
Kahrizi K, Huber M, Galetzka D, Dewi S, Schröder J, Weis E, Kariminejad A, Fattahi Z, Ropers HH, Schweiger S, Najmabadi H, Winter J. Homozygous variants in the gene SCAPER cause syndromic intellectual disability. American Journal of Medical Genetics. Part A. PMID 31069901 DOI: 10.1002/ajmg.a.61172 |
0.373 |
|
| 2019 |
Beheshtian M, Fattahi Z, Fadaee M, Vazehan R, Jamali P, Parsimehr E, Kamgar M, Faraji Zonooz M, Mahdavi SS, Kalhor Z, Arzhangi S, Abedini SS, Kermani FS, Mojahedi F, Kalscheuer VM, ... Ropers HH, et al. Identification of disease causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families. Clinical Genetics. PMID 30950035 DOI: 10.1111/cge.13549 |
0.405 |
|
| 2018 |
Jensen LR, Garrett L, Hölter SM, Rathkolb B, Rácz I, Adler T, Prehn C, Hans W, Rozman J, Becker L, Aguilar-Pimentel JA, Puk O, Moreth K, Dopatka M, Walther DJ, ... ... Ropers HH, et al. A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene. Biochimica Et Biophysica Acta. Molecular Basis of Disease. PMID 30557699 DOI: 10.1016/J.Bbadis.2018.12.011 |
0.441 |
|
| 2018 |
Kazeminasab S, Taskiran II, Fattahi Z, Bazazzadegan N, Hosseini M, Rahimi M, Oladnabi M, Haddadi M, Celik A, Ropers HH, Najmabadi H, Kahrizi K. CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 30450701 DOI: 10.1002/ajmg.b.32648 |
0.398 |
|
| 2018 |
Kahrizi K, Hu H, Hosseini M, Kalscheuer VM, Fattahi Z, Beheshtian M, Suckow V, Mohseni M, Lipkowitz B, Mehvari S, Mehrjoo Z, Akhtarkhavari T, Ghaderi Z, Rahimi M, Arzhangi S, ... ... Ropers HH, et al. Effect of inbreeding on intellectual disability revisited by Trio sequencing. Clinical Genetics. PMID 30315573 DOI: 10.1111/cge.13463 |
0.379 |
|
| 2018 |
Hu H, Kahrizi K, Musante L, Fattahi Z, Herwig R, Hosseini M, Oppitz C, Abedini SS, Suckow V, Larti F, Beheshtian M, Lipkowitz B, Akhtarkhavari T, Mehvari S, Otto S, ... ... Ropers HH, et al. Genetics of intellectual disability in consanguineous families. Molecular Psychiatry. PMID 29302074 DOI: 10.1038/S41380-017-0012-2 |
0.469 |
|
| 2016 |
Hu H, Hübner C, Lukacs Z, Musante L, Gill E, Wienker TF, Ropers HH, Knierim E, Schuelke M. Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C). European Journal of Human Genetics : Ejhg. PMID 27827379 DOI: 10.1038/ejhg.2016.149 |
0.409 |
|
| 2016 |
Palmer EE, Stuhlmann T, Weinert S, Haan E, Van Esch H, Holvoet M, Boyle J, Leffler M, Raynaud M, Moraine C, van Bokhoven H, Kleefstra T, Kahrizi K, Najmabadi H, Ropers HH, et al. De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. Molecular Psychiatry. PMID 27550844 DOI: 10.1038/Mp.2016.135 |
0.374 |
|
| 2015 |
Ropers HH, Wienker T. Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders. European Journal of Medical Genetics. PMID 26506440 DOI: 10.1016/j.ejmg.2015.10.007 |
0.343 |
|
| 2015 |
Jazayeri R, Hu H, Fattahi Z, Musante L, Abedini SS, Hosseini M, Wienker TF, Ropers HH, Najmabadi H, Kahrizi K. Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia. Archives of Iranian Medicine. 18: 670-82. PMID 26443249 DOI: 0151810/AIM.007 |
0.33 |
|
| 2015 |
Davarniya B, Hu H, Kahrizi K, Musante L, Fattahi Z, Hosseini M, Maqsoud F, Farajollahi R, Wienker TF, Ropers HH, Najmabadi H. The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families. Plos One. 10: e0129631. PMID 26308914 DOI: 10.1371/journal.pone.0129631 |
0.355 |
|
| 2015 |
Iqbal Z, Püttmann L, Musante L, Razzaq A, Zahoor MY, Hu H, Wienker TF, Garshasbi M, Fattahi Z, Gilissen C, Vissers LE, de Brouwer AP, Veltman JA, Pfundt R, Najmabadi H, ... Ropers HH, et al. Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration. European Journal of Human Genetics : Ejhg. PMID 26173967 DOI: 10.1038/ejhg.2015.148 |
0.312 |
|
| 2015 |
Oladnabi M, Musante L, Larti F, Hu H, Abedini SS, Wienker T, Ropers HH, Kahrizi K, Najmabadi H. New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian families. Archives of Iranian Medicine. 18: 179-84. PMID 25773692 DOI: 0151803/AIM.008 |
0.341 |
|
| 2015 |
Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, ... ... Ropers HH, et al. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Molecular Psychiatry. PMID 25644381 DOI: 10.1038/Mp.2014.193 |
0.545 |
|
| 2015 |
Vulto-van Silfhout AT, Nakagawa T, Bahi-Buisson N, Haas SA, Hu H, Bienek M, Vissers LE, Gilissen C, Tzschach A, Busche A, Müsebeck J, Rump P, Mathijssen IB, Avela K, Somer M, ... ... Ropers HH, et al. Variants in CUL4B are associated with cerebral malformations. Human Mutation. 36: 106-17. PMID 25385192 DOI: 10.1002/Humu.22718 |
0.425 |
|
| 2015 |
Larti F, Kahrizi K, Musante L, Hu H, Papari E, Fattahi Z, Bazazzadegan N, Liu Z, Banan M, Garshasbi M, Wienker TF, Ropers HH, Galjart N, Najmabadi H. A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability. European Journal of Human Genetics : Ejhg. 23: 331-6. PMID 24569606 DOI: 10.1038/ejhg.2014.13 |
0.347 |
|
| 2015 |
Frani? S, Dolan CV, Broxholme J, Hu H, Zemojtel T, Davies GE, Nelson KA, Ehli EA, Pool R, Hottenga JJ, Ropers HH, Boomsma DI. Mendelian and polygenic inheritance of intelligence: A common set of causal genes? Using next-generation sequencing to examine the effects of 168 intellectual disability genes on normal-range intelligence Intelligence. 49: 10-22. DOI: 10.1016/j.intell.2014.12.001 |
0.427 |
|
| 2014 |
Hu H, Matter ML, Issa-Jahns L, Jijiwa M, Kraemer N, Musante L, de la Vega M, Ninnemann O, Schindler D, Damatova N, Eirich K, Sifringer M, Schrötter S, Eickholt BJ, van den Heuvel L, ... ... Ropers HH, et al. Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness. Annals of Clinical and Translational Neurology. 1: 1024-35. PMID 25574476 DOI: 10.1002/Acn3.149 |
0.427 |
|
| 2014 |
Minocherhomji S, Hansen C, Kim HG, Mang Y, Bak M, Guldberg P, Papadopoulos N, Eiberg H, Doh GD, Møllgård K, Hertz JM, Nielsen JE, Ropers HH, Tümer Z, Tommerup N, et al. Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia. Human Molecular Genetics. 23: 6163-76. PMID 24986922 DOI: 10.1093/hmg/ddu337 |
0.337 |
|
| 2014 |
Thorwarth A, Schnittert-Hübener S, Schrumpf P, Müller I, Jyrch S, Dame C, Biebermann H, Kleinau G, Katchanov J, Schuelke M, Ebert G, Steininger A, Bönnemann C, Brockmann K, Christen HJ, ... ... Ropers HH, et al. Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum. Journal of Medical Genetics. 51: 375-87. PMID 24714694 DOI: 10.1136/jmedgenet-2013-102248 |
0.345 |
|
| 2014 |
Hu H, Suckow V, Musante L, Roggenkamp V, Kraemer N, Ropers HH, Hübner C, Wienker TF, Kaindl AM. Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations. Cell Cycle (Georgetown, Tex.). 13: 1650-1. PMID 24691052 DOI: 10.4161/cc.28706 |
0.462 |
|
| 2014 |
Musante L, Ropers HH. Genetics of recessive cognitive disorders. Trends in Genetics : Tig. 30: 32-9. PMID 24176302 DOI: 10.1016/j.tig.2013.09.008 |
0.398 |
|
| 2013 |
Lesca G, Moizard MP, Bussy G, Boggio D, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Des Portes V, Labalme A, Sanlaville D, Edery P, Raynaud M, Lespinasse J. Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. American Journal of Medical Genetics. Part A. 161: 3063-71. PMID 24039113 DOI: 10.1002/ajmg.a.36162 |
0.457 |
|
| 2013 |
Püttmann L, Stehr H, Garshasbi M, Hu H, Kahrizi K, Lipkowitz B, Jamali P, Tzschach A, Najmabadi H, Ropers HH, Musante L, Kuss AW. A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. American Journal of Medical Genetics. Part A. 161: 1915-22. PMID 23825041 DOI: 10.1002/ajmg.a.36030 |
0.367 |
|
| 2013 |
Hirata H, Nanda I, van Riesen A, McMichael G, Hu H, Hambrock M, Papon MA, Fischer U, Marouillat S, Ding C, Alirol S, Bienek M, Preisler-Adams S, Grimme A, Seelow D, ... ... Ropers HH, et al. ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. American Journal of Human Genetics. 92: 681-95. PMID 23623388 DOI: 10.1016/J.Ajhg.2013.03.021 |
0.448 |
|
| 2013 |
Hoffer JL, Fryssira H, Konstantinidou AE, Ropers HH, Tzschach A. Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome). Clinical Genetics. 83: 92-5. PMID 22486404 DOI: 10.1111/j.1399-0004.2012.01880.x |
0.35 |
|
| 2012 |
Huang L, Jolly LA, Willis-Owen S, Gardner A, Kumar R, Douglas E, Shoubridge C, Wieczorek D, Tzschach A, Cohen M, Hackett A, Field M, Froyen G, Hu H, Haas SA, ... Ropers HH, et al. A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. American Journal of Human Genetics. 91: 694-702. PMID 23000143 DOI: 10.1016/j.ajhg.2012.08.011 |
0.379 |
|
| 2012 |
Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, ... ... Ropers HH, et al. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. American Journal of Human Genetics. 91: 56-72. PMID 22770980 DOI: 10.1016/J.Ajhg.2012.05.005 |
0.354 |
|
| 2012 |
Ropers HH. On the future of genetic risk assessment. Journal of Community Genetics. 3: 229-36. PMID 22467181 DOI: 10.1007/s12687-012-0092-2 |
0.345 |
|
| 2011 |
Strobl-Wildemann G, Kalscheuer VM, Hu H, Wrogemann K, Ropers HH, Tzschach A. Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability. American Journal of Medical Genetics. Part A. 155: 3067-70. PMID 22002931 DOI: 10.1002/ajmg.a.34291 |
0.428 |
|
| 2011 |
Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, ... ... Ropers HH, et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature. 478: 57-63. PMID 21937992 DOI: 10.1038/nature10423 |
0.372 |
|
| 2011 |
Hu H, Eggers K, Chen W, Garshasbi M, Motazacker MM, Wrogemann K, Kahrizi K, Tzschach A, Hosseini M, Bahman I, Hucho T, Mühlenhoff M, Gerardy-Schahn R, Najmabadi H, Ropers HH, et al. ST3GAL3 mutations impair the development of higher cognitive functions. American Journal of Human Genetics. 89: 407-14. PMID 21907012 DOI: 10.1016/j.ajhg.2011.08.008 |
0.311 |
|
| 2011 |
Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y, Garshasbi M, Khan MA, Ishak GE, Weksberg R, Ullmann R, Tzschach A, ... ... Ropers HH, et al. Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. American Journal of Human Genetics. 89: 176-82. PMID 21763484 DOI: 10.1016/J.Ajhg.2011.06.006 |
0.332 |
|
| 2011 |
Garshasbi M, Kahrizi K, Hosseini M, Nouri Vahid L, Falah M, Hemmati S, Hu H, Tzschach A, Ropers HH, Najmabadi H, Kuss AW. A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family. American Journal of Medical Genetics. Part A. 155: 1976-80. PMID 21739581 DOI: 10.1002/ajmg.a.34077 |
0.382 |
|
| 2011 |
Pak C, Garshasbi M, Kahrizi K, Gross C, Apponi LH, Noto JJ, Kelly SM, Leung SW, Tzschach A, Behjati F, Abedini SS, Mohseni M, Jensen LR, Hu H, Huang B, ... ... Ropers HH, et al. Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans. Proceedings of the National Academy of Sciences of the United States of America. 108: 12390-5. PMID 21734151 DOI: 10.1073/Pnas.1107103108 |
0.367 |
|
| 2011 |
Jensen LR, Chen W, Moser B, Lipkowitz B, Schroeder C, Musante L, Tzschach A, Kalscheuer VM, Meloni I, Raynaud M, van Esch H, Chelly J, de Brouwer AP, Hackett A, van der Haar S, ... ... Ropers HH, et al. Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. European Journal of Human Genetics : Ejhg. 19: 717-20. PMID 21267006 DOI: 10.1038/ejhg.2010.244 |
0.331 |
|
| 2011 |
Cingöz S, Bache I, Bjerglund L, Ropers HH, Tommerup N, Jensen H, Brøndum-Nielsen K, Tümer Z. Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects. American Journal of Medical Genetics. Part A. 155: 203-6. PMID 21204233 DOI: 10.1002/ajmg.a.33766 |
0.442 |
|
| 2011 |
Kuss AW, Garshasbi M, Kahrizi K, Tzschach A, Behjati F, Darvish H, Abbasi-Moheb L, Puettmann L, Zecha A, Weissmann R, Hu H, Mohseni M, Abedini SS, Rajab A, Hertzberg C, ... ... Ropers HH, et al. Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. Human Genetics. 129: 141-8. PMID 21063731 DOI: 10.1007/s00439-010-0907-3 |
0.48 |
|
| 2011 |
Kahrizi K, Hu CH, Garshasbi M, Abedini SS, Ghadami S, Kariminejad R, Ullmann R, Chen W, Ropers HH, Kuss AW, Najmabadi H, Tzschach A. Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. European Journal of Human Genetics : Ejhg. 19: 115-7. PMID 20700148 DOI: 10.1038/ejhg.2010.132 |
0.482 |
|
| 2011 |
Lesch KP, Selch S, Renner TJ, Jacob C, Nguyen TT, Hahn T, Romanos M, Walitza S, Shoichet S, Dempfle A, Heine M, Boreatti-Hümmer A, Romanos J, Gross-Lesch S, Zerlaut H, ... ... Ropers HH, et al. Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree. Molecular Psychiatry. 16: 491-503. PMID 20308990 DOI: 10.1038/Mp.2010.29 |
0.43 |
|
| 2010 |
Darvish H, Esmaeeli-Nieh S, Monajemi GB, Mohseni M, Ghasemi-Firouzabadi S, Abedini SS, Bahman I, Jamali P, Azimi S, Mojahedi F, Dehghan A, Shafeghati Y, Jankhah A, Falah M, Soltani Banavandi MJ, ... ... Ropers HH, et al. A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. Journal of Medical Genetics. 47: 823-8. PMID 20978018 DOI: 10.1136/jmg.2009.076398 |
0.435 |
|
| 2010 |
Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortüm F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, ... ... Ropers HH, et al. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nature Genetics. 42: 1021-6. PMID 20890276 DOI: 10.1038/Ng.677 |
0.318 |
|
| 2010 |
Ropers HH. Genetics of early onset cognitive impairment. Annual Review of Genomics and Human Genetics. 11: 161-87. PMID 20822471 DOI: 10.1146/annurev-genom-082509-141640 |
0.304 |
|
| 2010 |
Kariminejad A, Kariminejad R, Tzschach A, Najafi H, Ahmed A, Ullmann R, Ropers HH, Kariminejad MH. 11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features. American Journal of Medical Genetics. Part A. 152: 2651-5. PMID 20799331 DOI: 10.1002/ajmg.a.33623 |
0.336 |
|
| 2010 |
Shafeghati Y, Kahrizi K, Najmabadi H, Kuss AW, Ropers HH, Tzschach A. Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature. European Journal of Pediatrics. 169: 1535-9. PMID 20661588 DOI: 10.1007/s00431-010-1267-7 |
0.334 |
|
| 2010 |
Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, Szczepanska M, Krawczynski M, Zachwieja J, Zwolinska D, Beales PL, ... Ropers HH, et al. Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. American Journal of Human Genetics. 86: 949-56. PMID 20493458 DOI: 10.1016/J.Ajhg.2010.04.012 |
0.403 |
|
| 2010 |
Thorwarth A, Mueller I, Biebermann H, Ropers HH, Grueters A, Krude H, Ullmann R. Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis. The Journal of Clinical Endocrinology and Metabolism. 95: 3446-52. PMID 20427504 DOI: 10.1210/jc.2009-2195 |
0.42 |
|
| 2010 |
Budny B, Badura-Stronka M, Materna-Kiryluk A, Tzschach A, Raynaud M, Latos-Bielenska A, Ropers HH. Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome. Clinical Genetics. 77: 541-51. PMID 20412111 DOI: 10.1111/j.1399-0004.2010.01429.x |
0.471 |
|
| 2010 |
Tzschach A, Menzel C, Erdogan F, Istifli ES, Rieger M, Ovens-Raeder A, Macke A, Ropers HH, Ullmann R, Kalscheuer V. Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement. American Journal of Medical Genetics. Part A. 152: 1008-12. PMID 20358617 DOI: 10.1002/ajmg.a.33343 |
0.466 |
|
| 2010 |
Lugtenberg D, Zangrande-Vieira L, Kirchhoff M, Whibley AC, Oudakker AR, Kjaergaard S, Vianna-Morgante AM, Kleefstra T, Ruiter M, Jehee FS, Ullmann R, Schwartz CE, Stratton M, Raymond FL, Veltman JA, ... ... Ropers HH, et al. Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. American Journal of Medical Genetics. Part A. 152: 638-45. PMID 20186789 DOI: 10.1002/ajmg.a.33292 |
0.317 |
|
| 2010 |
Jensen LR, Bartenschlager H, Rujirabanjerd S, Tzschach A, Nümann A, Janecke AR, Spörle R, Stricker S, Raynaud M, Nelson J, Hackett A, Fryns JP, Chelly J, de Brouwer AP, Hamel B, ... ... Ropers HH, et al. A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C. Pathogenetics. 3: 2. PMID 20181063 DOI: 10.1186/1755-8417-3-2 |
0.481 |
|
| 2010 |
Trimborn M, Ghani M, Walther DJ, Dopatka M, Dutrannoy V, Busche A, Meyer F, Nowak S, Nowak J, Zabel C, Klose J, Esquitino V, Garshasbi M, Kuss AW, Ropers HH, et al. Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function. Plos One. 5: e9242. PMID 20169082 DOI: 10.1371/journal.pone.0009242 |
0.492 |
|
| 2010 |
Giannandrea M, Bianchi V, Mignogna ML, Sirri A, Carrabino S, D'Elia E, Vecellio M, Russo S, Cogliati F, Larizza L, Ropers HH, Tzschach A, Kalscheuer V, Oehl-Jaschkowitz B, Skinner C, et al. Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. American Journal of Human Genetics. 86: 185-95. PMID 20159109 DOI: 10.1016/j.ajhg.2010.01.011 |
0.317 |
|
| 2010 |
Chen W, Ullmann R, Langnick C, Menzel C, Wotschofsky Z, Hu H, Döring A, Hu Y, Kang H, Tzschach A, Hoeltzenbein M, Neitzel H, Markus S, Wiedersberg E, Kistner G, ... ... Ropers HH, et al. Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing. European Journal of Human Genetics : Ejhg. 18: 539-43. PMID 19953122 DOI: 10.1038/ejhg.2009.211 |
0.472 |
|
| 2010 |
Tzschach A, Bisgaard AM, Kirchhoff M, Graul-Neumann LM, Neitzel H, Page S, Ahmed A, Müller I, Erdogan F, Ropers HH, Kalscheuer VM, Ullmann R. Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. European Journal of Human Genetics : Ejhg. 18: 291-5. PMID 19844253 DOI: 10.1038/ejhg.2009.163 |
0.428 |
|
| 2009 |
Hu H, Wrogemann K, Kalscheuer V, Tzschach A, Richard H, Haas SA, Menzel C, Bienek M, Froyen G, Raynaud M, Van Bokhoven H, Chelly J, Ropers H, Chen W. Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. The Hugo Journal. 3: 83. PMID 20535404 DOI: 10.1007/s11568-010-9142-1 |
0.436 |
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| 2009 |
Mir A, Kaufman L, Noor A, Motazacker MM, Jamil T, Azam M, Kahrizi K, Rafiq MA, Weksberg R, Nasr T, Naeem F, Tzschach A, Kuss AW, Ishak GE, Doherty D, ... Ropers HH, et al. Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. American Journal of Human Genetics. 85: 909-15. PMID 20004765 DOI: 10.1016/J.Ajhg.2009.11.009 |
0.474 |
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| 2009 |
Bashiardes S, Kousoulidou L, van Bokhoven H, Ropers HH, Chelly J, Moraine C, de Brouwer AP, Van Esch H, Froyen G, Patsalis PC. A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders. The Journal of Molecular Diagnostics : Jmd. 11: 562-8. PMID 19779134 DOI: 10.2353/jmoldx.2009.090086 |
0.496 |
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| 2009 |
Kariminejad A, Kariminejad R, Tzschach A, Ullmann R, Ahmed A, Asghari-Roodsari A, Salehpour S, Afroozan F, Ropers HH, Kariminejad MH. Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis. American Journal of Medical Genetics. Part A. 149: 1544-9. PMID 19533795 DOI: 10.1002/ajmg.a.32949 |
0.392 |
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| 2009 |
Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, ... ... Ropers HH, et al. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nature Genetics. 41: 535-43. PMID 19377476 DOI: 10.1038/Ng.367 |
0.457 |
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| 2009 |
Shoichet SA, Waibel S, Endruhn S, Sperfeld AD, Vorwerk B, Müller I, Erdogan F, Ludolph AC, Ropers HH, Ullmann R. Identification of candidate genes for sporadic amyotrophic lateral sclerosis by array comparative genomic hybridization. Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group On Motor Neuron Diseases. 10: 162-9. PMID 18985462 DOI: 10.1080/17482960802535001 |
0.371 |
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| 2009 |
Kahrizi K, Najmabadi H, Kariminejad R, Jamali P, Malekpour M, Garshasbi M, Ropers HH, Kuss AW, Tzschach A. An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4. European Journal of Human Genetics : Ejhg. 17: 125-8. PMID 18781183 DOI: 10.1038/ejhg.2008.159 |
0.344 |
|
| 2009 |
Kalscheuer VM, Musante L, Fang C, Hoffmann K, Fuchs C, Carta E, Deas E, Venkateswarlu K, Menzel C, Ullmann R, Tommerup N, Dalprà L, Tzschach A, Selicorni A, Lüscher B, ... Ropers HH, et al. A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. Human Mutation. 30: 61-8. PMID 18615734 DOI: 10.1002/Humu.20814 |
0.382 |
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| 2009 |
Tzschach A, Ramel C, Kron A, Seipel B, Wüster C, Cordes U, Liehr T, Hoeltzenbein M, Menzel C, Ropers HH, Ullmann R, Kalscheuer V, Decker J, Steinberger D. Hypergonadotropic hypogonadism in a patient with inv ins (2;4). International Journal of Andrology. 32: 226-30. PMID 18042180 DOI: 10.1111/j.1365-2605.2007.00839.x |
0.37 |
|
| 2009 |
Hu H, Wrogemann K, Kalscheuer V, Tzschach A, Richard H, Haas SA, Menzel C, Bienek M, Froyen G, Raynaud M, van Bokhoven H, Chelly J, Ropers H, Chen W. Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing Hugo Journal. 3: 41-49. DOI: 10.1007/s11568-010-9137-y |
0.316 |
|
| 2008 |
Ropers HH. Genetics of intellectual disability. Current Opinion in Genetics & Development. 18: 241-50. PMID 18694825 DOI: 10.1016/j.gde.2008.07.008 |
0.485 |
|
| 2008 |
Kalscheuer VM, Feenstra I, Van Ravenswaaij-Arts CM, Smeets DF, Menzel C, Ullmann R, Musante L, Ropers HH. Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. American Journal of Medical Genetics. Part A. 146: 2053-9. PMID 18627065 DOI: 10.1002/ajmg.a.32419 |
0.445 |
|
| 2008 |
Garshasbi M, Hadavi V, Habibi H, Kahrizi K, Kariminejad R, Behjati F, Tzschach A, Najmabadi H, Ropers HH, Kuss AW. A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. American Journal of Human Genetics. 82: 1158-64. PMID 18452889 DOI: 10.1016/j.ajhg.2008.03.018 |
0.434 |
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| 2008 |
Møller RS, Kübart S, Hoeltzenbein M, Heye B, Vogel I, Hansen CP, Menzel C, Ullmann R, Tommerup N, Ropers HH, Tümer Z, Kalscheuer VM. Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. American Journal of Human Genetics. 82: 1165-70. PMID 18405873 DOI: 10.1016/j.ajhg.2008.03.001 |
0.486 |
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| 2008 |
Tzschach A, Kelbova C, Weidensee S, Peters H, Ropers HH, Ullmann R, Erdogan F, Jurkatis J, Menzel C, Kalscheuer V, Demuth S. Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23). Ophthalmic Genetics. 29: 37-40. PMID 18363172 DOI: 10.1080/13816810701867615 |
0.46 |
|
| 2008 |
Chen W, Kalscheuer V, Tzschach A, Menzel C, Ullmann R, Schulz MH, Erdogan F, Li N, Kijas Z, Arkesteijn G, Pajares IL, Goetz-Sothmann M, Heinrich U, Rost I, Dufke A, ... ... Ropers HH, et al. Mapping translocation breakpoints by next-generation sequencing. Genome Research. 18: 1143-9. PMID 18326688 DOI: 10.1101/Gr.076166.108 |
0.369 |
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| 2008 |
Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C, Bauters M, Govaerts K, Vandeleur L, Van Esch H, Chelly J, Sanlaville D, van Bokhoven H, Ropers HH, Laumonnier F, et al. Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. American Journal of Human Genetics. 82: 432-43. PMID 18252223 DOI: 10.1016/j.ajhg.2007.11.002 |
0.485 |
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| 2008 |
Scheffer IE, Turner SJ, Dibbens LM, Bayly MA, Friend K, Hodgson B, Burrows L, Shaw M, Wei C, Ullmann R, Ropers HH, Szepetowski P, Haan E, Mazarib A, Afawi Z, et al. Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain : a Journal of Neurology. 131: 918-27. PMID 18234694 DOI: 10.1093/brain/awm338 |
0.312 |
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| 2008 |
Walczak-Sztulpa J, Wisniewska M, Latos-Bielenska A, Linné M, Kelbova C, Belitz B, Pfeiffer L, Kalscheuer V, Erdogan F, Kuss AW, Ropers HH, Ullmann R, Tzschach A. Chromosome deletions in 13q33-34: report of four patients and review of the literature. American Journal of Medical Genetics. Part A. 146: 337-42. PMID 18203171 DOI: 10.1002/ajmg.a.32127 |
0.443 |
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| 2008 |
Gilling M, Lauritsen MB, Møller M, Henriksen KF, Vicente A, Oliveira G, Cintin C, Eiberg H, Andersen PS, Mors O, Rosenberg T, Brøndum-Nielsen K, Cotterill RM, Lundsteen C, Ropers HH, et al. A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia. European Journal of Human Genetics : Ejhg. 16: 312-9. PMID 18183041 DOI: 10.1038/sj.ejhg.5201985 |
0.482 |
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| 2008 |
Tzschach A, Chen W, Erdogan F, Hoeller A, Ropers HH, Castellan C, Ullmann R, Schinzel A. Characterization of interstitial Xp duplications in two families by tiling path array CGH. American Journal of Medical Genetics. Part A. 146: 197-203. PMID 18076117 DOI: 10.1002/Ajmg.A.32070 |
0.427 |
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| 2008 |
Moheb LA, Tzschach A, Garshasbi M, Kahrizi K, Darvish H, Heshmati Y, Kordi A, Najmabadi H, Ropers HH, Kuss AW. Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. European Journal of Human Genetics : Ejhg. 16: 270-3. PMID 18043714 DOI: 10.1038/sj.ejhg.5201967 |
0.358 |
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| 2008 |
Erdogan F, Belloso JM, Gabau E, Ajbro KD, Guitart M, Ropers HH, Tommerup N, Ullmann R, Tümer Z, Larsen LA. Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly. European Journal of Medical Genetics. 51: 81-6. PMID 17998172 DOI: 10.1016/j.ejmg.2007.09.007 |
0.31 |
|
| 2008 |
Kirov G, Gumus D, Chen W, Norton N, Georgieva L, Sari M, O'Donovan MC, Erdogan F, Owen MJ, Ropers HH, Ullmann R. Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Human Molecular Genetics. 17: 458-65. PMID 17989066 DOI: 10.1093/Hmg/Ddm323 |
0.357 |
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| 2008 |
Klopocki E, Graul-Neumann LM, Grieben U, Tönnies H, Ropers HH, Horn D, Mundlos S, Ullmann R. A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. European Journal of Pediatrics. 167: 903-8. PMID 17932688 DOI: 10.1007/S00431-007-0616-7 |
0.432 |
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| 2007 |
Kousoulidou L, Parkel S, Zilina O, Palta P, Puusepp H, Remm M, Turner G, Boyle J, van Bokhoven H, de Brouwer A, Van Esch H, Froyen G, Ropers HH, Chelly J, Moraine C, et al. Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH. European Journal of Medical Genetics. 50: 399-410. PMID 17980689 DOI: 10.1016/j.ejmg.2007.09.001 |
0.436 |
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| 2007 |
Møller RS, Hansen CP, Jackson GD, Ullmann R, Ropers HH, Tommerup N, Tümer Z. Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe. Clinical Genetics. 72: 593-8. PMID 17941887 DOI: 10.1111/j.1399-0004.2007.00901.x |
0.394 |
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| 2007 |
Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D, Cooper GM, Ventura M, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. American Journal of Human Genetics. 81: 1057-69. PMID 17924346 DOI: 10.1086/522591 |
0.368 |
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| 2007 |
Engenheiro E, Saraiva J, Carreira I, Ramos L, Ropers HH, Silva E, Tommerup N, Tümer Z. Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome. Clinical Genetics. 72: 464-70. PMID 17850355 DOI: 10.1111/j.1399-0004.2007.00879.x |
0.461 |
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| 2007 |
Ropers HH. New perspectives for the elucidation of genetic disorders. American Journal of Human Genetics. 81: 199-207. PMID 17668371 DOI: 10.1086/520679 |
0.339 |
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| 2007 |
Ullmann R, Turner G, Kirchhoff M, Chen W, Tonge B, Rosenberg C, Field M, Vianna-Morgante AM, Christie L, Krepischi-Santos AC, Banna L, Brereton AV, Hill A, Bisgaard AM, Müller I, ... ... Ropers HH, et al. Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Human Mutation. 28: 674-82. PMID 17480035 DOI: 10.1002/humu.20546 |
0.39 |
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| 2007 |
Belloso JM, Bache I, Guitart M, Caballin MR, Halgren C, Kirchhoff M, Ropers HH, Tommerup N, Tümer Z. Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome. European Journal of Human Genetics : Ejhg. 15: 711-3. PMID 17392702 DOI: 10.1038/sj.ejhg.5201824 |
0.441 |
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| 2007 |
Froyen G, Bauters M, Boyle J, Van Esch H, Govaerts K, van Bokhoven H, Ropers HH, Moraine C, Chelly J, Fryns JP, Marynen P, Gecz J, Turner G. Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region. Human Genetics. 121: 539-47. PMID 17333282 DOI: 10.1007/s00439-007-0343-1 |
0.531 |
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| 2007 |
Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, Trotier F, Fleischhauer S, Greenhalgh L, Newbury-Ecob RA, Neumann LM, Habenicht R, König R, Seemanova E, Megarbane A, Ropers HH, et al. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. American Journal of Human Genetics. 80: 232-40. PMID 17236129 DOI: 10.1086/510919 |
0.436 |
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| 2007 |
Tzschach A, Menzel C, Erdogan F, Schubert M, Hoeltzenbein M, Barbi G, Petzenhauser C, Ropers HH, Ullmann R, Kalscheuer V. Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH. American Journal of Medical Genetics. Part A. 143: 333-7. PMID 17230488 DOI: 10.1002/ajmg.a.31601 |
0.434 |
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| 2007 |
de Brouwer AP, Yntema HG, Kleefstra T, Lugtenberg D, Oudakker AR, de Vries BB, van Bokhoven H, Van Esch H, Frints SG, Froyen G, Fryns JP, Raynaud M, Moizard MP, Ronce N, Bensalem A, ... ... Ropers HH, et al. Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Human Mutation. 28: 207-8. PMID 17221867 DOI: 10.1002/humu.9482 |
0.466 |
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| 2007 |
Kalscheuer VM, FitzPatrick D, Tommerup N, Bugge M, Niebuhr E, Neumann LM, Tzschach A, Shoichet SA, Menzel C, Erdogan F, Arkesteijn G, Ropers HH, Ullmann R. Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. Human Genetics. 121: 501-9. PMID 17211639 DOI: 10.1007/s00439-006-0284-0 |
0.401 |
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| 2007 |
Chen W, Jensen LR, Gecz J, Fryns JP, Moraine C, de Brouwer A, Chelly J, Moser B, Ropers HH, Kuss AW. Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation. European Journal of Human Genetics : Ejhg. 15: 375-8. PMID 17180121 DOI: 10.1038/sj.ejhg.5201758 |
0.346 |
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| 2007 |
Erdogan F, Ullmann R, Chen W, Schubert M, Adolph S, Hultschig C, Kalscheuer V, Ropers HH, Spaich C, Tzschach A. Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay American Journal of Medical Genetics, Part A. 143: 172-178. PMID 17163532 DOI: 10.1002/ajmg.a.31541 |
0.423 |
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| 2007 |
Najmabadi H, Motazacker MM, Garshasbi M, Kahrizi K, Tzschach A, Chen W, Behjati F, Hadavi V, Nieh SE, Abedini SS, Vazifehmand R, Firouzabadi SG, Jamali P, Falah M, Seifati SM, ... ... Ropers HH, et al. Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Human Genetics. 121: 43-8. PMID 17120046 DOI: 10.1007/s00439-006-0292-0 |
0.494 |
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| 2007 |
Jensen LR, Lenzner S, Moser B, Freude K, Tzschach A, Wei C, Fryns JP, Chelly J, Turner G, Moraine C, Hamel B, Ropers HH, Kuss AW. X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11. European Journal of Human Genetics : Ejhg. 15: 68-75. PMID 16969374 DOI: 10.1038/sj.ejhg.5201714 |
0.503 |
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| 2006 |
Erdogan F, Chen W, Kirchhoff M, Kalscheuer VM, Hultschig C, Müller I, Schulz R, Menzel C, Bryndorf T, Ropers HH, Ullmann R. Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation Cytogenetic and Genome Research. 115: 247-253. PMID 17124407 DOI: 10.1159/000095921 |
0.326 |
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| 2006 |
Cingoz S, Bisgaard AM, Bache I, Bryndorf T, Kirchoff M, Petersen W, Ropers HH, Maas N, Van Buggenhout G, Tommerup N, Tümer Z. 4q35 deletion and 10p15 duplication associated with immunodeficiency American Journal of Medical Genetics, Part A. 140: 2231-2235. PMID 16964622 DOI: 10.1002/ajmg.a.31431 |
0.427 |
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| 2006 |
Tzschach A, Hoeltzenbein M, Hoffmann K, Menzel C, Beyer A, Ocker V, Wurster G, Raynaud M, Ropers HH, Kalscheuer V, Heilbronner H. Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3. European Journal of Human Genetics : Ejhg. 14: 1317-20. PMID 16926859 DOI: 10.1038/sj.ejhg.5201707 |
0.454 |
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| 2006 |
Klopocki E, Neumann LM, Tönnies H, Ropers HH, Mundlos S, Ullmann R. Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28Mb deletion encompassing the TBX3 gene European Journal of Human Genetics. 14: 1274-1279. PMID 16896345 DOI: 10.1038/Sj.Ejhg.5201696 |
0.527 |
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| 2006 |
Budny B, Chen W, Omran H, Fliegauf M, Tzschach A, Wisniewska M, Jensen LR, Raynaud M, Shoichet SA, Badura M, Lenzner S, Latos-Bielenska A, Ropers HH. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Human Genetics. 120: 171-8. PMID 16783569 DOI: 10.1007/s00439-006-0210-5 |
0.45 |
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| 2006 |
Ropers HH. X-linked mental retardation: many genes for a complex disorder Current Opinion in Genetics and Development. 16: 260-269. PMID 16647850 DOI: 10.1016/j.gde.2006.04.017 |
0.464 |
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| 2006 |
Gilling M, Dullinger JS, Gesk S, Metzke-Heidemann S, Siebert R, Meyer T, Brondum-Nielsen K, Tommerup N, Ropers HH, Tümer Z, Kalscheuer VM, Thomas NS. Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among Northern Europeans American Journal of Human Genetics. 78: 878-883. PMID 16642442 DOI: 10.1086/503632 |
0.459 |
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| 2006 |
Tzschach A, Krause-Plonka I, Menzel C, Knoblauch A, Toennies H, Hoeltzenbein M, Radke M, Ropers HH, Kalscheuer V. Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion. American Journal of Medical Genetics. Part A. 140: 1108-10. PMID 16619204 DOI: 10.1002/ajmg.a.31226 |
0.403 |
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| 2006 |
Tzschach A, Lenzner S, Moser B, Reinhardt R, Chelly J, Fryns JP, Kleefstra T, Raynaud M, Turner G, Ropers HH, Kuss A, Jensen LR. Novel JARID1C/SMCX mutations in patients with X-linked mental retardation Human Mutation. 27: 389. PMID 16541399 DOI: 10.1002/Humu.9420 |
0.437 |
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| 2006 |
Klopocki E, Fiebig B, Robinson P, Tönnies H, Erdogan F, Ropers HH, Mundlos S, Ullmann R. A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2 American Journal of Medical Genetics. 140: 873-877. PMID 16528753 DOI: 10.1002/Ajmg.A.31163 |
0.424 |
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| 2006 |
Yan KL, Zhang XJ, Wang ZM, Yang S, Zhang GL, Wang J, Xiao FL, Gao M, Cui Y, Chen JJ, Fan X, Sun LD, Xia Q, Zhang KY, Niu ZM, ... ... Ropers H, et al. A novel MGST2 non-synonymous mutation in a Chinese pedigree with psoriasis vulgaris Journal of Investigative Dermatology. 126: 1003-1005. PMID 16498398 DOI: 10.1038/sj.jid.5700186 |
0.433 |
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| 2006 |
Tzschach A, Krause-Plonka I, Menzel C, Kalscheuer V, Toennies H, Scherthan H, Knoblauch A, Radke M, Ropers HH, Hoeltzenbein M. Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences. American Journal of Medical Genetics. Part A. 140: 496-502. PMID 16470790 DOI: 10.1002/ajmg.a.31105 |
0.399 |
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| 2006 |
Tzschach A, Hoffmann K, Hoeltzenbein M, Bache I, Tommerup N, Bommer C, Körner H, Kalscheuer V, Ropers HH. Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris [4] Clinical Genetics. 69: 189-193. PMID 16433702 DOI: 10.1111/j.1399-0004.2005.00558.x |
0.382 |
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| 2006 |
Lugtenberg D, Yntema HG, Banning MJG, Oudakker AR, Firth HV, Willatt L, Raynaud M, Kleefstra T, Fryns JP, Ropers HH, Chelly J, Moraine C, Gécz J, Van Reeuwijk J, Nabuurs SB, et al. ZNF674: A new Krüppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation American Journal of Human Genetics. 78: 265-278. PMID 16385466 DOI: 10.1086/500306 |
0.456 |
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| 2006 |
Garshasbi M, Motazacker MM, Kahrizi K, Behjati F, Abedini SS, Nieh SE, Firouzabadi SG, Becker C, Rüschendorf F, Nürnberg P, Tzschach A, Vazifehmand R, Erdogan F, Ullmann R, Lenzner S, ... ... Ropers HH, et al. SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Human Genetics. 118: 708-15. PMID 16311745 DOI: 10.1007/s00439-005-0104-y |
0.497 |
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| 2006 |
Hagens O, Dubos A, Abidi F, Barbi G, Van Zutven L, Hoeltzenbein M, Tommerup N, Moraine C, Fryns JP, Chelly J, van Bokhoven H, Gécz J, Dollfus H, Ropers HH, Schwartz CE, et al. Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation Human Genetics. 118: 578-590. PMID 16249884 DOI: 10.1007/s00439-005-0072-2 |
0.474 |
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| 2006 |
Shoichet SA, Duprez L, Hagens O, Waetzig V, Menzel C, Herdegen T, Schweiger S, Dan B, Vamos E, Ropers HH, Kalscheuer VM. Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy Human Genetics. 118: 559-567. PMID 16249883 DOI: 10.1007/s00439-005-0084-y |
0.409 |
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| 2006 |
Poirier K, Lacombe D, Gilbert-Dussardier B, Raynaud M, Desportes V, De Brouwer APM, Moraine C, Fryns JP, Ropers HH, Beldjord C, Chelly J, Bienvenu T. Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis Neurogenetics. 7: 39-46. PMID 16235064 DOI: 10.1007/s10048-005-0014-0 |
0.313 |
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| 2006 |
Dlugaszewska B, Silahtaroglu A, Menzel C, Kübart S, Cohen M, Mundlos S, Tümer Z, Kjaer K, Friedrich U, Ropers HH, Tommerup N, Neitzel H, Kalscheuer VM. Breakpoints around the HOXD cluster result in various limb malformations Journal of Medical Genetics. 43: 111-118. PMID 15980115 DOI: 10.1136/Jmg.2005.033555 |
0.481 |
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| 2005 |
Laumonnier F, Holbert S, Ronce N, Faravelli F, Lenzner S, Schwartz CE, Lespinasse J, Van Esch H, Lacombe D, Goizet C, Tuy FPD, Van Bokhoven H, Fryns JP, Chelly J, Ropers HH, et al. Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate Journal of Medical Genetics. 42: 780-786. PMID 16199551 DOI: 10.1136/jmg.2004.029439 |
0.337 |
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| 2005 |
Shoichet SA, Kunde SA, Viertel P, Schell-Apacik C, von Voss H, Tommerup N, Ropers HH, Kalscheuer VM. Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly Human Genetics. 117: 536-544. PMID 16133170 DOI: 10.1007/s00439-005-1310-3 |
0.48 |
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| 2005 |
Nino-Soto MI, Nuber UA, Basrur PK, Ropers HH, King WA. Differences in the pattern of X-linked gene expression between fetal bovine muscle and fibroblast cultures derived from the same muscle biopsies Cytogenetic and Genome Research. 111: 57-64. PMID 16093722 DOI: 10.1159/000085671 |
0.412 |
|
| 2005 |
Nuber UA, Kriaucionis S, Roloff TC, Guy J, Selfridge J, Steinhoff C, Schulz R, Lipkowitz B, Ropers HH, Holmes MC, Bird A. Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome. Human Molecular Genetics. 14: 2247-56. PMID 16002417 DOI: 10.1093/Hmg/Ddi229 |
0.306 |
|
| 2005 |
Borg I, Freude K, Kübart S, Hoffmann K, Menzel C, Laccone F, Firth H, Ferguson-Smith MA, Tommerup N, Ropers HH, Sargan D, Kalscheuer VM. Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome European Journal of Human Genetics. 13: 921-927. PMID 15870826 DOI: 10.1038/sj.ejhg.5201429 |
0.494 |
|
| 2005 |
Chen W, Erdogan F, Ropers HH, Lenzner S, Ullmann R. CGHPRO -- a comprehensive data analysis tool for array CGH. Bmc Bioinformatics. 6: 85. PMID 15807904 DOI: 10.1186/1471-2105-6-85 |
0.339 |
|
| 2005 |
Poirier K, Francis F, Hamel B, Moraine C, Fryns JP, Ropers HH, Chelly J, Bienvenu T. Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males [1] European Journal of Human Genetics. 13: 523-524. PMID 15770224 DOI: 10.1038/sj.ejhg.5201399 |
0.383 |
|
| 2005 |
Ropers HH, Hamel BC. X-linked mental retardation. Nature Reviews. Genetics. 6: 46-57. PMID 15630421 DOI: 10.1038/nrg1501 |
0.375 |
|
| 2005 |
Jensen LR, Amende M, Gurok U, Moser B, Gimmel V, Tzschach A, Janecke AR, Tariverdian G, Chelly J, Fryns JP, Van Esch H, Kleefstra T, Hamel B, Moraine C, Gécz J, ... ... Ropers HH, et al. Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation American Journal of Human Genetics. 76: 227-236. PMID 15586325 DOI: 10.1086/427563 |
0.473 |
|
| 2004 |
Tao J, Van Esch H, Hagedorn-Greiwe M, Hoffmann K, Moser B, Raynaud M, Sperner J, Fryns JP, Schwinger E, Gécz J, Ropers HH, Kalscheuer VM. Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation American Journal of Human Genetics. 75: 1149-1154. PMID 15499549 DOI: 10.1086/426460 |
0.439 |
|
| 2004 |
Jazaeri AA, Chandramouli GV, Aprelikova O, Nuber UA, Sotiriou C, Liu ET, Ropers HH, Yee CJ, Boyd J, Barrett JC. BRCA1-mediated repression of select X chromosome genes. Journal of Translational Medicine. 2: 32. PMID 15383145 DOI: 10.1186/1479-5876-2-32 |
0.456 |
|
| 2004 |
Shi W, van den Hurk JA, Alamo-Bethencourt V, Mayer W, Winkens HJ, Ropers HH, Cremers FP, Fundele R. Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues. Developmental Biology. 272: 53-65. PMID 15242790 DOI: 10.1016/J.Ydbio.2004.04.016 |
0.595 |
|
| 2004 |
Gurok U, Steinhoff C, Lipkowitz B, Ropers HH, Scharff C, Nuber UA. Gene expression changes in the course of neural progenitor cell differentiation. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 24: 5982-6002. PMID 15229246 DOI: 10.1523/JNEUROSCI.0809-04.2004 |
0.318 |
|
| 2004 |
Freude K, Hoffmann K, Jensen LR, Delatycki MB, Des Portes V, Moser B, Hamel B, Van Bokhoven H, Moraine C, Fryns JP, Chelly J, Gécz J, Lenzner S, Kalscheuer VM, Ropers HH. Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation American Journal of Human Genetics. 75: 305-309. PMID 15162322 DOI: 10.1086/422507 |
0.48 |
|
| 2004 |
Rosenberg EH, Almeida LS, Kleefstra T, DeGrauw RS, Yntema HG, Bahi N, Moraine C, Ropers HH, Fryns JP, DeGrauw TJ, Jakobs C, Salomons GS. High prevalence of SLC6A8 deficiency in X-linked mental retardation American Journal of Human Genetics. 75: 97-105. PMID 15154114 DOI: 10.1086/422102 |
0.372 |
|
| 2004 |
Musante L, Bartsch O, Ropers HH, Kalscheuer VM. cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2 Gene. 332: 119-127. PMID 15145061 DOI: 10.1016/j.gene.2004.02.044 |
0.455 |
|
| 2004 |
Kleefstra T, Yntema HG, Oudakker AR, Banning MJG, Kalscheuer VM, Chelly J, Moraine C, Ropers HH, Fryns JP, Janssen IM, Sistermans EA, Nillesen WN, De Vries LBA, Hamel BCJ, Van Bokhoven H. Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation Journal of Medical Genetics. 41: 394-399. PMID 15121780 DOI: 10.1136/Jmg.2003.016972 |
0.474 |
|
| 2004 |
Singh U, Fohn LE, Wakayama T, Ohgane J, Steinhoff C, Lipkowitz B, Schulz R, Orth A, Ropers HH, Behringer RR, Tanaka S, Shiota K, Yanagimachi R, Nuber UA, Fundele R. Different molecular mechanisms underlie placental overgrowth phenotypes caused by interspecies hybridization, cloning, and Esx1 mutation. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 230: 149-64. PMID 15108320 DOI: 10.1002/Dvdy.20024 |
0.468 |
|
| 2004 |
Zechner U, Shi W, Hemberger M, Himmelbauer H, Otto S, Orth A, Kalscheuer V, Fischer U, Elango R, Reis A, Vogel W, Ropers H, Rüschendorf F, Fundele R. Divergent genetic and epigenetic post-zygotic isolation mechanisms in Mus and Peromyscus Journal of Evolutionary Biology. 17: 453-460. PMID 15009278 DOI: 10.1046/j.1420-9101.2003.00656.x |
0.462 |
|
| 2004 |
Hertz JM, Sivertsen B, Silahtaroglu A, Bugge M, Kalscheuer V, Weber A, Wirth J, Ropers HH, Tommerup N, Tümer Z. Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13). Journal of Medical Genetics. 41: e25. PMID 14985396 DOI: 10.1136/Jmg.2003.011510 |
0.443 |
|
| 2004 |
Laumonnier F, Bonnet-Brilhault F, Gomot M, Blanc R, David A, Moizard MP, Raynaud M, Ronce N, Lemonnier E, Calvas P, Laudier B, Chelly J, Fryns JP, Ropers HH, Hamel BCJ, et al. X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family American Journal of Human Genetics. 74: 552-557. PMID 14963808 DOI: 10.1086/382137 |
0.444 |
|
| 2004 |
Prudlo J, Alber B, Kalscheuer VM, Roemer M, Martin T, Dullinger J, Sittinger H, Niemann S, Heutink P, Ludolph AC, Ropers HH, Zang K, Meyer T. Chromosomal Translocation t(18;21)(q23;q22.1) Indicates Novel Susceptibility Loci for Frontotemporal Dementia with ALS Annals of Neurology. 55: 134-138. PMID 14705124 DOI: 10.1002/ana.10822 |
0.409 |
|
| 2004 |
Salomons GS, Ropers H. Reply to Mandel. American Journal of Human Genetics. 75: 731-732. DOI: 10.1086/424822 |
0.441 |
|
| 2003 |
Kalscheuer VM, Freude K, Musante L, Jensen LR, Yntema HG, Gécz J, Sefiani A, Hoffmann K, Moser B, Haas S, Gurok U, Haesler S, Aranda B, Nshedjan A, Tzschach A, ... ... Ropers HH, et al. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nature Genetics. 35: 313-5. PMID 14634649 DOI: 10.1038/Ng1264 |
0.471 |
|
| 2003 |
Shoichet SA, Hoffmann K, Menzel C, Trautmann U, Moser B, Hoeltzenbein M, Echenne B, Partington M, Van Bokhoven H, Moraine C, Fryns JP, Chelly J, Rott HD, Ropers HH, Kalscheuer VM. Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. American Journal of Human Genetics. 73: 1341-54. PMID 14628291 DOI: 10.1086/380309 |
0.528 |
|
| 2003 |
van den Hurk JA, van de Pol DJ, Wissinger B, van Driel MA, Hoefsloot LH, de Wijs IJ, van den Born LI, Heckenlively JR, Brunner HG, Zrenner E, Ropers HH, Cremers FP. Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. Human Genetics. 113: 268-75. PMID 12827496 DOI: 10.1007/S00439-003-0970-0 |
0.7 |
|
| 2003 |
Ropers HH, Hoeltzenbein M, Kalscheuer V, Yntema H, Hamel B, Fryns JP, Chelly J, Partington M, Gecz J, Moraine C. Nonsyndromic X-linked mental retardation: Where are the missing mutations? Trends in Genetics. 19: 316-320. PMID 12801724 DOI: 10.1016/S0168-9525(03)00113-6 |
0.494 |
|
| 2003 |
Frints SGM, Jun L, Fryns JP, Devriendt K, Teulingkx R, Van den Berghe L, De Vos B, Borghgraef M, Chelly J, Des Portes V, Van Bokhoven H, Hamel B, Ropers HH, Kalscheuer V, Raynaud M, et al. Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the NXF5 gene American Journal of Medical Genetics. 119: 367-374. PMID 12784308 DOI: 10.1002/Ajmg.A.20195 |
0.525 |
|
| 2003 |
Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kübart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Sutherland GR, Ropers HH, Gécz J. Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation American Journal of Human Genetics. 72: 1401-1411. PMID 12736870 DOI: 10.1086/375538 |
0.376 |
|
| 2003 |
Herr A, Meunier D, Müller I, Rump A, Fundele R, Ropers HH, Nuber UA. Expression of mouse Tbx22 supports its role in palatogenesis and glossogenesis. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 226: 579-86. PMID 12666195 DOI: 10.1002/dvdy.10260 |
0.42 |
|
| 2003 |
Musante L, Kehl HG, Majewski F, Meinecke P, Schweiger S, Gillessen-Kaesbach G, Wieczorek D, Hinkel GK, Tinschert S, Hoeltzenbein M, Ropers H, Kalscheuer VM. Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. European Journal of Human Genetics. 11: 201-206. PMID 12634870 DOI: 10.1038/Sj.Ejhg.5200935 |
0.433 |
|
| 2003 |
Winter J, Lehmann T, Suckow V, Kijas Z, Kulozik A, Kalscheuer V, Hamel B, Devriendt K, Opitz J, Lenzner S, Ropers H, Schweiger S. Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome Human Genetics. 112: 249-254. PMID 12545276 DOI: 10.1007/S00439-002-0901-5 |
0.42 |
|
| 2003 |
Holden S, Schroer A, Kuebart S, Slosarek I, Bovie C, Cox J, Kalscheuer V, Ropers H, Raymond L. A Chromosome Breakpoint Mapping Strategy to Identify Candidate Genes for Nonsyndromic X-linked Mental Retardation within Xp11.2 Clinical Science. 104. DOI: 10.1042/Cs104039Pb |
0.47 |
|
| 2002 |
Borg I, Squire M, Menzel C, Stout K, Morgan D, Willatt L, O'Brien PC, Ferguson-Smith MA, Ropers HH, Tommerup N, Kalscheuer VM, Sargan DR. A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation. Journal of Medical Genetics. 39: 391-9. PMID 12070244 DOI: 10.1136/jmg.39.6.391 |
0.378 |
|
| 2002 |
Tümer Z, Croucher PJ, Jensen LR, Hampe J, Hansen C, Kalscheuer V, Ropers HH, Tommerup N, Schreiber S. Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13-14 (IBD2). Gene. 288: 179-85. PMID 12034507 DOI: 10.1016/S0378-1119(02)00478-X |
0.372 |
|
| 2001 |
Kirschner R, Erturk D, Zeitz C, Sahin S, Ramser J, Cremers FP, Ropers HH, Berger W. DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements. Human Genetics. 109: 271-8. PMID 11702207 DOI: 10.1007/S004390100572 |
0.598 |
|
| 2001 |
Hemberger M, Cross JC, Ropers HH, Lehrach H, Fundele R, Himmelbauer H. UniGene cDNA array-based monitoring of transcriptome changes during mouse placental development. Proceedings of the National Academy of Sciences of the United States of America. 98: 13126-31. PMID 11698681 DOI: 10.1073/Pnas.231396598 |
0.368 |
|
| 2001 |
Trockenbacher A, Suckow V, Foerster J, Winter J, Krauss S, Ropers H, Schneider R, Schweiger S. MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation. Nature Genetics. 29: 287-294. PMID 11685209 DOI: 10.1038/Ng762 |
0.383 |
|
| 2001 |
Brunner B, Hornung U, Shan Z, Nanda I, Kondo M, Zend-Ajusch E, Haaf T, Ropers HH, Shima A, Schmid M, Kalscheuer VM, Schartl M. Genomic organization and expression of the doublesex-related gene cluster in vertebrates and detection of putative regulatory regions for DMRT1. Genomics. 77: 8-17. PMID 11543627 DOI: 10.1006/Geno.2001.6615 |
0.452 |
|
| 2001 |
Couvert P, Bienvenu T, Aquaviva C, Poirier K, Moraine C, Gendrot C, Verloes A, Andrès C, Le Fevre AC, Souville I, Steffann J, des Portes V, Ropers HH, Yntema HG, Fryns JP, et al. MECP2 is highly mutated in X-linked mental retardation. Human Molecular Genetics. 10: 941-6. PMID 11309367 DOI: 10.1093/HMG/10.9.941 |
0.328 |
|
| 2001 |
Nothwang HG, Kim HG, Aoki J, Geisterfer M, Kübart S, Wegner RD, van Moers A, Ashworth LK, Haaf T, Bell J, Arai H, Tommerup N, Ropers HH, Wirth J. Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain. Human Molecular Genetics. 10: 797-806. PMID 11285245 DOI: 10.1093/hmg/10.8.797 |
0.331 |
|
| 2001 |
Wirth J, Back E, Hüttenhofer A, Nothwang HG, Lich C, Gross S, Menzel C, Schinzel A, Kioschis P, Tommerup N, Ropers HH, Horsthemke B, Buiting K. A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15. Human Molecular Genetics. 10: 201-10. PMID 11159938 DOI: 10.1093/hmg/10.3.201 |
0.379 |
|
| 2001 |
Sudbrak R, Wieczorek G, Nuber UA, Mann W, Kirchner R, Erdogan F, Brown CJ, Wöhrle D, Sterk P, Kalscheuer VM, Berger W, Lehrach H, Ropers HH. X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications. Human Molecular Genetics. 10: 77-83. PMID 11136717 DOI: 10.1093/Hmg/10.1.77 |
0.507 |
|
| 2000 |
Fryns JP, Borghgraef M, Brown TW, Chelly J, Fisch GS, Hamel B, Hanauer A, Lacombe D, Luo L, MacPherson JN, Mandel JL, Moraine C, Mulley J, Nelson D, Oostra B, ... ... Ropers HH, et al. 9th international workshop on fragile X syndrome and X-linked mental retardation. American Journal of Medical Genetics. 94: 345-60. PMID 11050616 DOI: 10.1002/1096-8628(20001023)94:5<345::Aid-Ajmg1>3.0.Co;2-Z |
0.323 |
|
| 2000 |
Brunner B, Grützner F, Yaspo M, Ropers H, Haaf T, Kalscheuer VM. Molecular cloning and characterization of the Fugu rubripes MEST/COPG2 imprinting cluster and chromosomal localization in Fugu and Tetraodon nigroviridis. Chromosome Research. 8: 465-476. PMID 11032317 DOI: 10.1023/A:1009263504671 |
0.473 |
|
| 2000 |
Roepman R, Bernoud-Hubac N, Schick DE, Maugeri A, Berger W, Ropers HH, Cremers FP, Ferreira PA. The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. Human Molecular Genetics. 9: 2095-105. PMID 10958648 DOI: 10.1093/Hmg/9.14.2095 |
0.592 |
|
| 2000 |
Bienvenu T, des Portes V, McDonell N, Carrié A, Zemni R, Couvert P, Ropers HH, Moraine C, van Bokhoven H, Fryns JP, Allen K, Walsh CA, Boué J, Kahn A, Chelly J, et al. Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. American Journal of Medical Genetics. 93: 294-8. PMID 10946356 DOI: 10.1002/1096-8628(20000814)93:4<294::AID-AJMG8>3.0.CO;2-F |
0.377 |
|
| 2000 |
Cremers FP, Cremers CW, Ropers HH. The ins and outs of X-linked deafness type 3. Advances in Oto-Rhino-Laryngology. 56: 184-95. PMID 10868234 |
0.468 |
|
| 2000 |
Blagitko N, Mergenthaler S, Schulz U, Wollmann HA, Craigen W, Eggermann T, Ropers HH, Kalscheuer VM. Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion. Human Molecular Genetics. 9: 1587-95. PMID 10861285 DOI: 10.1093/HMG/9.11.1587 |
0.378 |
|
| 2000 |
Blagitko N, Schulz U, Schinzel AA, Ropers HH, Kalscheuer VM. gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome. Human Molecular Genetics. 8: 2387-96. PMID 10556286 DOI: 10.1093/HMG/8.13.2387 |
0.421 |
|
| 2000 |
des Portes V, Beldjord C, Chelly J, Hamel B, Kremer H, Smits A, van Bokhoven H, Ropers HH, Claes S, Fryns JP, Ronce N, Gendrot C, Toutain A, Raynaud M, Moraine C. X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: the European XLMR consortium. American Journal of Medical Genetics. 85: 263-5. PMID 10398240 DOI: 10.1002/(SICI)1096-8628(19990730)85:3<263::AID-AJMG15>3.0.CO;2-0 |
0.353 |
|
| 1999 |
Yntema HG, van den Helm B, Kissing J, van Duijnhoven G, Poppelaars F, Chelly J, Moraine C, Fryns JP, Hamel BC, Heilbronner H, Pander HJ, Brunner HG, Ropers HH, Cremers FP, van Bokhoven H. A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation. Genomics. 62: 332-43. PMID 10644430 DOI: 10.1006/geno.1999.6004 |
0.707 |
|
| 1999 |
Grützner F, Lütjens G, Rovira C, Barnes DW, Ropers H, Haaf T. Classical and molecular cytogenetics of the pufferfish Tetraodon nigroviridis. Chromosome Research. 7: 655-662. PMID 10628667 DOI: 10.1023/A:1009292220760 |
0.431 |
|
| 1999 |
Németh AH, Nolte D, Dunne E, Niemann S, Kostrzewa M, Peters U, Fraser E, Bochukova E, Butler R, Brown J, Cox RD, Levy ER, Ropers HH, Monaco AP, Müller U. Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3). Genomics. 60: 320-9. PMID 10493831 DOI: 10.1006/Geno.1999.5929 |
0.501 |
|
| 1999 |
Kirschner R, Rosenberg T, Schultz-Heienbrok R, Lenzner S, Feil S, Roepman R, Cremers FP, Ropers HH, Berger W. RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. Human Molecular Genetics. 8: 1571-8. PMID 10401007 DOI: 10.1093/Hmg/8.8.1571 |
0.605 |
|
| 1999 |
Yntema HG, van den Helm B, Knoers NV, Smits AP, van Roosmalen T, Smeets DF, Mariman EC, van der Burgt I, van Bokhoven H, Ropers HH, Kremer H, Hamel BC. X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region. American Journal of Medical Genetics. 85: 305-8. PMID 10398247 DOI: 10.1002/(SICI)1096-8628(19990730)85:3<305::AID-AJMG22>3.0.CO;2-5 |
0.369 |
|
| 1999 |
Siderius LE, Hamel BC, van Bokhoven H, de Jager F, van den Helm B, Kremer H, Heineman-de Boer JA, Ropers HH, Mariman EC. X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3. American Journal of Medical Genetics. 85: 216-20. PMID 10398231 DOI: 10.1002/(SICI)1096-8628(19990730)85:3<216::AID-AJMG6>3.0.CO;2-X |
0.422 |
|
| 1999 |
Schröer A, Schneider S, Ropers HH, Nothwang HG. Cloning and characterization of UXT, a novel gene in human Xp11, which is widely and abundantly expressed in tumor tissue Genomics. 56: 340-343. PMID 10087202 DOI: 10.1006/geno.1998.5712 |
0.436 |
|
| 1999 |
Grützner F, Himmelbauer H, Paulsen M, Ropers HH, Haaf T. Comparative mapping of mouse and rat chromosomes by fluorescence in situ hybridization. Genomics. 55: 306-13. PMID 10049585 DOI: 10.1006/GENO.1998.5658 |
0.408 |
|
| 1999 |
van Bokhoven H, Jung M, Smits AP, van Beersum S, Rüschendorf F, van Steensel M, Veenstra M, Tuerlings JH, Mariman EC, Brunner HG, Wienker TF, Reis A, Ropers HH, Hamel BC. Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27. American Journal of Human Genetics. 64: 538-46. PMID 9973291 DOI: 10.1086/302246 |
0.571 |
|
| 1999 |
Brunner B, Todt T, Lenzner S, Stout K, Schulz U, Ropers H, Kalscheuer VM. Genomic structure and comparative analysis of nine Fugu genes: conservation of synteny with human chromosome Xp22.2-p22.1. Genome Research. 9: 437-448. DOI: 10.1101/Gr.9.5.437 |
0.362 |
|
| 1998 |
Yntema HG, Hamel BC, Smits AP, van Roosmalen T, van den Helm B, Kremer H, Ropers HH, Smeets DF, van Bokhoven H. Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26. Journal of Medical Genetics. 35: 801-5. PMID 9783701 DOI: 10.1136/jmg.35.10.801 |
0.451 |
|
| 1998 |
Riesewijk AM, Blagitko N, Schinzel AA, Hu L, Schulz U, Hamel BC, Ropers H, Kalscheuer VM. Evidence against a major role of PEG1/MEST in Silver-Russell syndrome European Journal of Human Genetics. 6: 114-120. PMID 9781054 DOI: 10.1038/Sj.Ejhg.5200164 |
0.504 |
|
| 1998 |
Schwahn U, Lenzner S, Dong J, Feil S, Hinzmann B, van Duijnhoven G, Kirschner R, Hemberger M, Bergen AA, Rosenberg T, Pinckers AJ, Fundele R, Rosenthal A, Cremers FP, Ropers HH, et al. Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nature Genetics. 19: 327-32. PMID 9697692 DOI: 10.1038/1214 |
0.621 |
|
| 1998 |
Bienvenu T, des Portes V, Saint Martin A, McDonell N, Billuart P, Carrié A, Vinet MC, Couvert P, Toniolo D, Ropers HH, Moraine C, van Bokhoven H, Fryns JP, Kahn A, Beldjord C, et al. Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor. Human Molecular Genetics. 7: 1311-5. PMID 9668174 DOI: 10.1093/HMG/7.8.1311 |
0.356 |
|
| 1998 |
Riesewijk AM, Xu YQ, Schepens MT, Mariman EM, Polychronakos C, Ropers HH, Kalscheuer VM. Absence of an obvious molecular imprinting mechanism in a human fetus with monoallelic IGF2R expression. Biochemical and Biophysical Research Communications. 245: 272-7. PMID 9535821 DOI: 10.1006/BBRC.1998.8414 |
0.342 |
|
| 1997 |
Nothwang HG, Wirth J, Brandl B, Haaf T, Nielsen KB, Tommerup N, Ropers HH. Identification of positional candidates for neurological disorders on chromsome 13q14-->q22. Cytogenetics and Cell Genetics. 79: 293-7. PMID 9605876 DOI: 10.1159/000134747 |
0.394 |
|
| 1997 |
de Kok YJ, Cremers CW, Ropers HH, Cremers FP. The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation. Human Mutation. 10: 207-11. PMID 9298820 DOI: 10.1002/(Sici)1098-1004(1997)10:3<207::Aid-Humu5>3.0.Co;2-F |
0.588 |
|
| 1997 |
Riesewijk AM, Hu L, Schulz U, Tariverdian G, Höglund P, Kere J, Ropers HH, Kalscheuer VM. Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses. Genomics. 42: 236-44. PMID 9192843 DOI: 10.1006/GENO.1997.4731 |
0.402 |
|
| 1997 |
van den Hurk JA, Hendriks W, van de Pol DJ, Oerlemans F, Jaissle G, Rüther K, Kohler K, Hartmann J, Zrenner E, van Bokhoven H, Wieringa B, Ropers HH, Cremers FP. Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. Human Molecular Genetics. 6: 851-8. PMID 9175730 DOI: 10.1093/Hmg/6.6.851 |
0.714 |
|
| 1997 |
van den Hurk JA, Schwartz M, van Bokhoven H, van de Pol TJ, Bogerd L, Pinckers AJ, Bleeker-Wagemakers EM, Pawlowitzki IH, Rüther K, Ropers HH, Cremers FP. Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene. Human Mutation. 9: 110-7. PMID 9067750 DOI: 10.1002/(Sici)1098-1004(1997)9:2<110::Aid-Humu2>3.0.Co;2-D |
0.566 |
|
| 1996 |
Van Bokhoven H, Van den Hurk JA, Bogerd L, Van de Pol DJ, Ropers HH, Cremers FP. A highly polymorphic microsatellite marker located within the choroideremia gene. Ophthalmic Genetics. 17: 119-21. PMID 8905853 DOI: 10.3109/13816819609057115 |
0.606 |
|
| 1996 |
de Kok YJ, Vossenaar ER, Cremers CW, Dahl N, Laporte J, Hu LJ, Lacombe D, Fischel-Ghodsian N, Friedman RA, Parnes LS, Thorpe P, Bitner-Glindzicz M, Pander HJ, Heilbronner H, Graveline J, ... ... Ropers HH, et al. Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. Human Molecular Genetics. 5: 1229-35. PMID 8872461 DOI: 10.1093/Hmg/5.9.1229 |
0.722 |
|
| 1996 |
Roepman R, van Duijnhoven G, Rosenberg T, Pinckers AJ, Bleeker-Wagemakers LM, Bergen AA, Post J, Beck A, Reinhardt R, Ropers HH, Cremers FP, Berger W. Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. Human Molecular Genetics. 5: 1035-41. PMID 8817343 DOI: 10.1093/Hmg/5.7.1035 |
0.681 |
|
| 1996 |
van der Maarel SM, Scholten IH, Huber I, Philippe C, Suijkerbuijk RF, Gilgenkrantz S, Kere J, Cremers FP, Ropers HH. Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1. Human Molecular Genetics. 5: 887-97. PMID 8817323 DOI: 10.1093/Hmg/5.7.887 |
0.661 |
|
| 1996 |
Berger W, van de Pol D, Bächner D, Oerlemans F, Winkens H, Hameister H, Wieringa B, Hendriks W, Ropers HH. An animal model for Norrie disease (ND): gene targeting of the mouse ND gene. Human Molecular Genetics. 5: 51-9. PMID 8789439 DOI: 10.1093/hmg/5.1.51 |
0.597 |
|
| 1996 |
Roepman R, Bauer D, Rosenberg T, van Duijnhoven G, van de Vosse E, Platzer M, Rosenthal A, Ropers HH, Cremers FP, Berger W. Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP). Human Molecular Genetics. 5: 827-33. PMID 8776599 DOI: 10.1093/Hmg/5.6.827 |
0.652 |
|
| 1996 |
Riesewijk AM, Schepens MT, Mariman EM, Ropers HH, Kalscheuer VM. The MAS proto-oncogene is not imprinted in humans. Genomics. 35: 380-2. PMID 8661154 DOI: 10.1006/geno.1996.0372 |
0.466 |
|
| 1995 |
de Kok YJ, Merkx GF, van der Maarel SM, Huber I, Malcolm S, Ropers HH, Cremers FP. A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene. Human Molecular Genetics. 4: 2145-50. PMID 8589693 |
0.643 |
|
| 1995 |
Vikkula M, Mariman EC, Lui VC, Zhidkova NI, Tiller GE, Goldring MB, van Beersum SE, de Waal Malefijt MC, van den Hoogen FH, Ropers HH. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell. 80: 431-7. PMID 7859284 DOI: 10.1016/0092-8674(95)90493-X |
0.446 |
|
| 1995 |
de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco AP, Malcolm S, Pembrey ME, Ropers HH, Cremers FP. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science (New York, N.Y.). 267: 685-8. PMID 7839145 DOI: 10.1126/Science.7839145 |
0.64 |
|
| 1995 |
Mariman EC, van Beersum SE, Cremers CW, Struycken PM, Ropers HH. Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity. Human Genetics. 95: 56-62. PMID 7814027 DOI: 10.1007/BF00225075 |
0.358 |
|
| 1995 |
Hamel BC, Draaisma JM, Pinckers AJ, Boetes C, Hoppe RL, Ropers HH, Brunner HG. Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report. American Journal of Medical Genetics. 56: 312-6. PMID 7778598 DOI: 10.1002/Ajmg.1320560320 |
0.509 |
|
| 1995 |
Bitner-Glindzicz M, Turnpenny P, Höglund P, Kääriäinen H, Sankila EM, van der Maarel SM, de Kok YJ, Ropers HH, Cremers FP, Pembrey M. Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3. Human Molecular Genetics. 4: 1467-9. PMID 7581392 |
0.511 |
|
| 1995 |
Philippe C, Arnould C, Sloan F, van Bokhoven H, van der Velde-Visser SD, Chery M, Ropers HH, Gilgenkrantz S, Monaco AP, Cremers FP. A high-resolution interval map of the q21 region of the human X chromosome. Genomics. 27: 539-43. PMID 7558039 DOI: 10.1006/Geno.1995.1089 |
0.578 |
|
| 1995 |
Cremers FP, Bitner-Glindzicz M, Pembrey ME, Ropers HH. Mapping and cloning hereditary deafness genes. Current Opinion in Genetics & Development. 5: 371-5. PMID 7549433 DOI: 10.1016/0959-437X(95)80053-0 |
0.657 |
|
| 1994 |
Kremer H, Mariman E, Otten BJ, Moll GW, Stoelinga GB, Wit JM, Jansen M, Drop SL, Faas B, Ropers HH. Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty. Human Molecular Genetics. 2: 1779-83. PMID 8281137 DOI: 10.1093/Hmg/2.11.1779 |
0.402 |
|
| 1994 |
Röhme D, Sidén T, van der Maarel SM, Cremers FP, Tantravahi U, Marinoni JC, Ropers HH, Schwartz CE. Radiation hybrids for the proximal long arm of the X chromosome and their use in the derivation of an ordered set of cosmid markers from a defined subregion in proximal Xq13.1. Somatic Cell and Molecular Genetics. 20: 1-10. PMID 8197472 DOI: 10.1007/Bf02257481 |
0.537 |
|
| 1994 |
von Bokhoven H, von Genderen C, Molloy CM, van de Pol DJ, Cremers CW, von Aarem A, Schwartz M, Rosenberg T, Geurts van Kessel AH, Ropers HH. Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II. Genomics. 19: 385-7. PMID 8188272 DOI: 10.1006/Geno.1994.1077 |
0.437 |
|
| 1994 |
Mariman EC, Gabreëls-Festen AA, van Beersum SE, Jongen PJ, van de Looij E, Baas F, Bolhuis PA, Ropers HH, Gabreëls FJ. Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies. Human Genetics. 93: 151-6. PMID 8112739 DOI: 10.1007/BF00210601 |
0.36 |
|
| 1994 |
de Leeuw B, Balemans M, Weghuis DO, Seruca R, Janz M, Geraghty MT, Gilgenkrantz S, Ropers HH, Geurts van Kessel A. Molecular cloning of the synovial sarcoma-specific translocation (X;18)(p11.2;q11.2) breakpoint. Human Molecular Genetics. 3: 745-9. PMID 8081361 DOI: 10.1093/HMG/3.5.745 |
0.342 |
|
| 1994 |
Kremer H, Zeeuwen P, McLean WHI, Mariman ECM, Lane EB, van de Kerkhof PCM, Ropers HH, Steijlen PM. Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene Journal of Investigative Dermatology. 103: 286-289. PMID 8077693 DOI: 10.1111/1523-1747.EP12394414 |
0.46 |
|
| 1994 |
Kremer H, Pinckers A, van den Helm B, Deutman AF, Ropers HH, Mariman EC. Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p. Human Molecular Genetics. 3: 299-302. PMID 8004098 DOI: 10.1093/HMG/3.2.299 |
0.489 |
|
| 1994 |
van Bokhoven H, van Genderen C, Ropers HH, Cremers FP. Dinucleotide repeat polymorphism within the choroideremia gene at Xq21.2. Human Molecular Genetics. 3: 1446. PMID 7987344 DOI: 10.1093/Hmg/3.8.1446 |
0.55 |
|
| 1994 |
van Bokhoven H, van den Hurk JA, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, Ropers HH, Cremers FP. Cloning and characterization of the human choroideremia gene. Human Molecular Genetics. 3: 1041-6. PMID 7981670 DOI: 10.1093/Hmg/3.7.1041 |
0.668 |
|
| 1994 |
Mariman EC, Gabreëls-Festen AA, van Beersum SE, Valentijn LJ, Baas F, Bolhuis PA, Jongen PJ, Ropers HH, Gabreëls FJ. Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies. Annals of Neurology. 36: 650-5. PMID 7944298 DOI: 10.1002/ANA.410360415 |
0.378 |
|
| 1994 |
Hamel BC, Mariman EC, van Beersum SE, Schoonbrood-Lenssen AM, Ropers HH. Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies. American Journal of Medical Genetics. 51: 591-7. PMID 7943045 DOI: 10.1002/AJMG.1320510459 |
0.424 |
|
| 1994 |
Bitner-Glindzicz M, de Kok Y, Summers D, Huber I, Cremers FP, Ropers HH, Reardon W, Pembrey ME, Malcolm S. Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families. Journal of Medical Genetics. 31: 916-21. PMID 7891371 |
0.648 |
|
| 1994 |
Brunner HG, van Beersum SE, Warman ML, Olsen BR, Ropers HH, Mariman EC. A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. Human Molecular Genetics. 3: 1561-4. PMID 7833911 DOI: 10.1093/Hmg/3.9.1561 |
0.633 |
|
| 1994 |
Steijlen PM, Kremer H, Vakilzadeh F, Happle R, Lavrijsen AP, Ropers HH, Mariman EC. Genetic linkage of the keratin type II gene cluster with ichthyosis bullosa of Siemens and with autosomal dominant ichthyosis exfoliativa. The Journal of Investigative Dermatology. 103: 282-5. PMID 7521372 DOI: 10.1111/1523-1747.EP12394335 |
0.451 |
|
| 1993 |
Brunner HG, Nelen MR, van Zandvoort P, Abeling NG, van Gennip AH, Wolters EC, Kuiper MA, Ropers HH, van Oost BA. X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism. American Journal of Human Genetics. 52: 1032-9. PMID 8503438 |
0.496 |
|
| 1993 |
Traupe H, Vetter U, Happle R, Fisher LW, Cremers FP, Landy SJ, Pankau R, Ropers HH. Exclusion of the biglycan (BGN) gene as a candidate gene for the Happle syndrome, employing an intragenic single-strand conformational polymorphism. Human Genetics. 91: 89-90. PMID 8454295 DOI: 10.1007/Bf00230233 |
0.604 |
|
| 1993 |
Brunner HG, Jansen G, Nillesen W, Nelen MR, de Die CE, Höweler CJ, van Oost BA, Wieringa B, Ropers HH, Smeets HJ. Brief report: reverse mutation in myotonic dystrophy. The New England Journal of Medicine. 328: 476-80. PMID 8421477 DOI: 10.1056/NEJM199302183280705 |
0.588 |
|
| 1993 |
Philippe C, Cremers FP, Chery M, Bach I, Abbadi N, Ropers HH, Gilgenkrantz S. Physical mapping of DNA markers in the q13-q22 region of the human X chromosome. Genomics. 17: 147-52. PMID 8406446 DOI: 10.1006/Geno.1993.1296 |
0.591 |
|
| 1993 |
Jansen G, Bartolomei M, Kalscheuer V, Merkx G, Wormskamp N, Mariman E, Smeets D, Ropers HH, Wieringa B. No imprinting involved in the expression of DM-kinase mRNAs in mouse and human tissues Human Molecular Genetics. 2: 1221-1227. PMID 8401505 DOI: 10.1093/HMG/2.8.1221 |
0.592 |
|
| 1993 |
Mariman EC, van Beersum SE, Cremers CW, van Baars FM, Ropers HH. Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q. Human Genetics. 91: 357-61. PMID 8388849 DOI: 10.1007/BF00217356 |
0.414 |
|
| 1993 |
Kalscheuer VM, Mariman EC, Schepens MT, Rehder H, Ropers H. The insulin-like growth factor type-2 receptor gene is imprinted in the mouse but not in humans. Nature Genetics. 5: 74-78. PMID 8220428 DOI: 10.1038/Ng0993-74 |
0.336 |
|
| 1993 |
Brunner HG, Nelen M, Breakefield XO, Ropers HH, van Oost BA. Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science (New York, N.Y.). 262: 578-80. PMID 8211186 DOI: 10.1126/Science.8211186 |
0.49 |
|
| 1992 |
Smeets HJ, Melenhorst JJ, Lemmink HH, Schröder CH, Nelen MR, Zhou J, Hostikka SL, Tryggvason K, Ropers HH, Jansweijer MC. Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome. Kidney International. 42: 83-8. PMID 1635357 DOI: 10.1038/Ki.1992.264 |
0.369 |
|
| 1992 |
Traupe H, van den Ouweland AMW, van Oost BA, Vogel W, Vetter U, Warren ST, Rocchi M, Darlison MG, Ropers HH. Fine mapping of the human biglycan (BGN) gene within the Xq28 region employing a hybrid cell panel Genomics. 13: 481-483. PMID 1612609 DOI: 10.1016/0888-7543(92)90279-2 |
0.497 |
|
| 1992 |
Bach I, Robinson D, Thomas N, Ropers HH, Cremers FP. Physical fine mapping of genes underlying X-linked deafness and non fra (X)-X-linked mental retardation at Xq21. Human Genetics. 89: 620-4. PMID 1511979 DOI: 10.1007/Bf00221950 |
0.619 |
|
| 1992 |
Brunner HG, Nillesen W, van Oost BA, Jansen G, Wieringa B, Ropers HH, Smeets HJ. Presymptomatic diagnosis of myotonic dystrophy. Journal of Medical Genetics. 29: 780-4. PMID 1453426 |
0.677 |
|
| 1992 |
Molloy CM, van de Pol TJ, Brohet RM, Ropers HH, Cremers FP. Three RFLPs for pZ11 (DXS540) in the choroideremia gene at Xq21.2. Nucleic Acids Research. 20: 1434. PMID 1373238 DOI: 10.1093/NAR/20.6.1434 |
0.56 |
|
| 1992 |
Traupe H, Müller D, Atherton D, Kalter DC, Cremers FP, van Oost BA, Ropers HH. Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation. Human Genetics. 89: 659-65. PMID 1355069 DOI: 10.1007/Bf00221958 |
0.682 |
|
| 1992 |
Berger W, van de Pol D, Warburg M, Gal A, Bleeker-Wagemakers L, de Silva H, Meindl A, Meitinger T, Cremers F, Ropers HH. Mutations in the candidate gene for Norrie disease. Human Molecular Genetics. 1: 461-5. PMID 1307245 DOI: 10.1093/Hmg/1.7.461 |
0.646 |
|
| 1992 |
Berger W, Meindl A, van de Pol TJ, Cremers FP, Ropers HH, Döerner C, Monaco A, Bergen AA, Lebo R, Warburgh M. Isolation of a candidate gene for Norrie disease by positional cloning. Nature Genetics. 2: 84. PMID 1303256 DOI: 10.1038/Ng0992-84A |
0.526 |
|
| 1992 |
Cremers FP, Molloy CM, van de Pol DJ, van den Hurk JA, Bach I, Geurts van Kessel AH, Ropers HH. An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q. Human Molecular Genetics. 1: 71-5. PMID 1301160 DOI: 10.1093/Hmg/1.2.71 |
0.653 |
|
| 1991 |
Brunner HG, Spaans F, Smeets HJ, Coerwinkel-Driessen M, Hulsebos T, Wieringa B, Ropers HH. Genetic linkage with chromosome 19 but not chromosome 17 in a family with myotonic dystrophy associated with hereditary motor and sensory neuropathy. Neurology. 41: 80-4. PMID 1985299 DOI: 10.1212/Wnl.41.1.80 |
0.68 |
|
| 1991 |
Smeets HJ, Hermens R, Brunner HG, Ropers HH, Wieringa B. Identification of variable simple sequence motifs in 19q13.2-qter: markers for the myotonic dystrophy locus. Genomics. 9: 257-63. PMID 1840564 DOI: 10.1016/0888-7543(91)90250-I |
0.72 |
|
| 1991 |
Brunner HG, Smeets B, Smeets D, Nelen M, Cremers CW, Ropers HH. Molecular genetics of X-linked hearing impairment. Annals of the New York Academy of Sciences. 630: 176-90. PMID 1683204 DOI: 10.1111/J.1749-6632.1991.Tb19586.X |
0.478 |
|
| 1991 |
van Oost BA, van Zandvoort PM, Tünte W, Brunner HG, Hoogeboom AJ, Maaswinkel-Mooy PD, Bakkeren J, Hamel B, Ropers HH. Linkage analysis in X-linked adrenoleukodystrophy and application in post- and prenatal diagnosis. Human Genetics. 86: 404-7. PMID 1671851 |
0.575 |
|
| 1990 |
Cremers FP, van de Pol DJ, van Kerkhoff LP, Wieringa B, Ropers HH. Cloning of a gene that is rearranged in patients with choroideraemia. Nature. 347: 674-7. PMID 2215697 DOI: 10.1038/347674A0 |
0.733 |
|
| 1990 |
Cremers FP, Brunsmann F, Berger W, van Kerkhoff EP, van de Pol TJ, Wieringa B, Pawlowitzki IH, Ropers HH. Cloning of the breakpoints of a deletion associated with choroidermia. Human Genetics. 86: 61-4. PMID 1979308 DOI: 10.1007/Bf00205174 |
0.712 |
|
| 1990 |
van de Pol TJ, Cremers FP, Brohet RM, Wieringa B, Ropers HH. Derivation of clones from the choroideremia locus by preparative field inversion gel electrophoresis. Nucleic Acids Research. 18: 725-31. PMID 1969148 DOI: 10.1093/NAR/18.4.725 |
0.677 |
|
| 1989 |
Knoers N, vd Heyden H, von Oost BA, Monnens L, Willems J, Ropers HH. Linkage of X-linked nephrogenic diabetes insipidus with DXS52, a polymorphic DNA marker. Nephron. 50: 187-90. PMID 3226453 DOI: 10.1159/000185155 |
0.351 |
|
| 1989 |
Brunner H, Schröder C, Monnens L, Veerkamp J, Ropers HH. Alport's syndrome: localization of the X-chromosomal gene and consequences for future investigations. Contributions to Nephrology. 67: 200-5. PMID 3208529 DOI: 10.1159/000415402 |
0.548 |
|
| 1989 |
Brunner H, Schröder C, van Bennekom C, Lambermon E, Tuerlings J, Menzel D, Olbing H, Monnens L, Wieringa B, Ropers HH. Localization of the gene for X-linked Alport's syndrome. Kidney International. 34: 507-10. PMID 3199669 DOI: 10.1038/Ki.1988.210 |
0.611 |
|
| 1989 |
Cremers FP, van de Pol DJ, Diergaarde PJ, Wieringa B, Nussbaum RL, Schwartz M, Ropers HH. Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes. Genomics. 4: 41-6. PMID 2914708 DOI: 10.1016/0888-7543(89)90312-1 |
0.728 |
|
| 1989 |
Cremers FP, van de Pol DJ, Wieringa B, Collins FS, Sankila EM, Siu VM, Flintoff WF, Brunsmann F, Blonden LA, Ropers HH. Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia. Proceedings of the National Academy of Sciences of the United States of America. 86: 7510-4. PMID 2798422 DOI: 10.1073/Pnas.86.19.7510 |
0.724 |
|
| 1989 |
Knoers N, van der Heyden H, van Oost BA, Monnens L, Willems J, Ropers HH. Three-point linkage analysis using multiple DNA polymorphic markers in families with X-linked nephrogenic diabetes insipidus. Genomics. 4: 434-7. PMID 2714800 DOI: 10.1016/0888-7543(89)90352-2 |
0.342 |
|
| 1989 |
Brunner HG, Korneluk RG, Coerwinkel-Driessen M, MacKenzie A, Smeets H, Lambermon HM, van Oost BA, Wieringa B, Ropers HH. Myotonic dystrophy is closely linked to the gene for muscle-type creatine kinase (CKMM). Human Genetics. 81: 308-10. PMID 2703233 DOI: 10.1007/Bf00283680 |
0.637 |
|
| 1989 |
Brunner HG, Smeets H, Lambermon HM, Coerwinkel-Driessen M, van Oost BA, Wieringa B, Ropers HH. A multipoint linkage map around the locus for myotonic dystrophy on chromosome 19. Genomics. 5: 589-95. PMID 2575588 DOI: 10.1016/0888-7543(89)90027-X |
0.68 |
|
| 1989 |
Smeets HJ, Brunner HG, Ropers HH, Wieringa B. Use of variable simple sequence motifs as genetic markers: application to study of myotonic dystrophy. Human Genetics. 83: 245-51. PMID 2571562 DOI: 10.1007/Bf00285165 |
0.685 |
|
| 1989 |
Ropers HH, Wieringa B. The recombinant DNA revolution: implications for diagnosis and prevention of inherited disease. European Journal of Obstetrics, Gynecology, and Reproductive Biology. 32: 15-23. PMID 2569992 DOI: 10.1016/0028-2243(89)90119-6 |
0.362 |
|
| 1989 |
Smeets H, Coerwinkel M, Schepens J, Brunner H, Schonk D, Ropers HH, Wieringa B. EcoRI RFLP at 19q13.1 identified by the anonymous DNA sequence p58B18 [D19S32]. Nucleic Acids Research. 17: 3628. PMID 2566984 DOI: 10.1093/Nar/17.9.3628 |
0.468 |
|
| 1989 |
Smeets H, Schepens J, Coerwinkel M, Brunner H, Schonk D, Ropers HH, Wieringa B. TaqI RFLP at 19q13.1 identified by the anonymous DNA sequence p5B18 [D19S28]. Nucleic Acids Research. 17: 3325. PMID 2566967 DOI: 10.1093/Nar/17.8.3325 |
0.467 |
|
| 1989 |
Smeets H, Markslag P, Hulsebos T, Brunner H, Schonk D, Ropers HH, Wieringa B. MspI RFLP at 19cen-q12 identified by the anonymous DNA sequence pPM17.4 [D19S29]. Nucleic Acids Research. 17: 3324. PMID 2471151 DOI: 10.1093/Nar/17.8.3324 |
0.469 |
|
| 1989 |
Smeets H, Schepens J, Coerwinkel M, Brunner H, Schonk D, Ropers HH, Wieringa B. MspI RFLP at 19q12-q13.1 identified by the anonymous DNA sequence p20B18 [D19S30]. Nucleic Acids Research. 17: 3323. PMID 2471150 DOI: 10.1093/Nar/17.8.3323 |
0.473 |
|
| 1988 |
Smeets B, Poddighe J, Brunner H, Ropers H, Wieringa B. Tight linkage between myotonic dystrophy and apolipoprotein E genes revealed with allele-specific oligonucleotides. Human Genetics. 80: 49-52. PMID 3417303 DOI: 10.1007/Bf00451455 |
0.671 |
|
| 1988 |
Kruse TA, Bolund L, Grzeschik KH, Ropers HH, Sjöström H, Norén O, Mantei N, Semenza G. The human lactase-phlorizin hydrolase gene is located on chromosome 2. Febs Letters. 240: 123-6. PMID 3142790 DOI: 10.1016/0014-5793(88)80352-1 |
0.355 |
|
| 1988 |
Brunner HG, van Bennekom A, Lambermon EM, Oei TL, Cremers WR, Wieringa B, Ropers HH. The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK. Human Genetics. 80: 337-40. PMID 2904400 |
0.676 |
|
| 1988 |
Kruse TA, Bolund L, Grzeschik KH, Ropers HH, Olsen J, Sjöström H, Norén O. Assignment of the human aminopeptidase N (peptidase E) gene to chromosome 15q13-qter. Febs Letters. 239: 305-8. PMID 2903074 DOI: 10.1016/0014-5793(88)80940-2 |
0.315 |
|
| 1988 |
Knoers N, van der Heyden H, van Oost BA, Ropers HH, Monnens L, Willems J. Nephrogenic diabetes insipidus: close linkage with markers from the distal long arm of the human X chromosome. Human Genetics. 80: 31-8. PMID 2843456 DOI: 10.1007/BF00451451 |
0.404 |
|
| 1988 |
Hulsebos T, Schonk D, van Dalen I, Coerwinkel-Driessen M, Schepens J, Ropers HH, Wieringa B. Isolation and characterization of alphoid DNA sequences specific for the pericentric regions of chromosomes 4, 5, 9, and 19. Cytogenetics and Cell Genetics. 47: 144-8. PMID 2837365 DOI: 10.1159/000132533 |
0.55 |
|
| 1987 |
Mondello C, Ropers HH, Craig IW, Tolley E, Goodfellow PN. Physical mapping of genes and sequences at the end of the human X chromosome short arm. Annals of Human Genetics. 51: 137-43. PMID 3674754 DOI: 10.1111/j.1469-1809.1987.tb01055.x |
0.385 |
|
| 1987 |
Hulsebos T, Wieringa B, Hochstenbach R, Smeets D, Schepens J, Oerlemans F, Zimmer J, Ropers HH. Toward early diagnosis of myotonic dystrophy: construction and characterization of a somatic cell hybrid with a single human der(19) chromosome. Cytogenetics and Cell Genetics. 43: 47-56. PMID 3502690 DOI: 10.1159/000132297 |
0.568 |
|
| 1987 |
Cremers FP, Pfeiffer RA, van de Pol TJ, Hofker MH, Kruse TA, Wieringa B, Ropers HH. An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region. Human Genetics. 77: 23-7. PMID 3476455 DOI: 10.1007/Bf00284707 |
0.699 |
|
| 1987 |
Smeets H, Markslag P, Bril J, Hulsebos T, Brunner H, Schonk D, Ropers HH, Wieringa B. EcoRI RFLP at 19 cen-q13.2 identified by the anonymous DNA sequence pPM6.7 (D19S18). Nucleic Acids Research. 15: 8120. PMID 2890138 DOI: 10.1093/Nar/15.19.8120 |
0.619 |
|
| 1987 |
Schepens J, Hulsebos T, Smeets H, Coerwinkel M, Brunner H, Ropers HH, Wieringa B. A locus at 19cen-19q13.2 (D19S15) containing three RFLPs linked to myotonic dystrophy (DM) is recognized by probe pJSB6. Nucleic Acids Research. 15: 3193. PMID 2882485 DOI: 10.1093/Nar/15.7.3193 |
0.635 |
|
| 1987 |
Friedrich U, Brunner H, Smeets D, Lambermon E, Ropers H. Three-point linkage analysis employing C3 and 19cen markers assigns the myotonic dystrophy gene to 19q Human Genetics. 75: 291-293. PMID 2881880 DOI: 10.1007/Bf00281077 |
0.595 |
|
| 1986 |
Wieacker P, Zimmer J, Ropers HH. X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance. Clinical Genetics. 28: 238-42. PMID 4064360 DOI: 10.1111/j.1399-0004.1985.tb00392.x |
0.405 |
|
| 1986 |
Gal A, Wieringa B, Smeets DF, Bleeker-Wagemakers L, Ropers HH. Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease. Cytogenetics and Cell Genetics. 42: 219-24. PMID 3502689 DOI: 10.1159/000132282 |
0.366 |
|
| 1983 |
Wieacker P, Wienker TF, Dallapiccola B, Bender K, Davies KE, Ropers HH. Linkage relationships between Retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome. Human Genetics. 64: 143-5. PMID 6885047 DOI: 10.1007/Bf00327111 |
0.613 |
|
| 1983 |
Wieacker P, Voiculescu J, Müller CR, Ropers HH. An XX male with a single STS gene dose. Cytogenetics and Cell Genetics. 35: 72-4. PMID 6572129 DOI: 10.1159/000131841 |
0.343 |
|
| 1983 |
Wieacker P, Davies KE, Mevorah B, Ropers HH. Linkage studies in a family with X-linked recessive ichthyosis employing a cloned DNA sequence from the distal short arm of the X chromosome Human Genetics. 63: 113-116. PMID 6301973 DOI: 10.1007/BF00291528 |
0.377 |
|
| 1981 |
Ropers HH, Migl B, Zimmer J, Fraccaro M, Maraschio PP, Westerveld A. Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrations. Human Genetics. 57: 354-6. PMID 6945285 DOI: 10.1007/BF00281683 |
0.342 |
|
| 1977 |
Hitzeroth HW, Bender K, Ropers HH, Geerthsen JM. Tentative evidence for 3--4 haematopoetic stem cells in man. Human Genetics. 35: 175-83. PMID 844863 DOI: 10.1007/Bf00393967 |
0.419 |
|
| 1977 |
Ropers HH, Wienker TF, Grimm T, Schroetter K, Bender K. Evidence for preferential X-chromosome inactivation in a family with Fabry disease. American Journal of Human Genetics. 29: 361-70. PMID 406783 |
0.519 |
|
| 1973 |
Engel W, Vogel W, Voiculescu I, Ropers HH, Zenzes MT, Bender K. Cytogenetic and biochemical differences between Apodemus sylvaticus and Apodemus flavicollis, possibly responsible for the failure to interbreed. Comparative Biochemistry and Physiology. B, Comparative Biochemistry. 44: 1165-73. PMID 4736653 DOI: 10.1016/0305-0491(73)90268-X |
0.546 |
|
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