H.-Hilger Ropers - Publications

Affiliations: 
Human Molecular Genetics Max Planck Institute for Molecular Genetics, Berlin, Berlin, Germany 
Area:
elucidation of monogenic disorders
Website:
http://www.molgen.mpg.de/research/ropers/

219 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
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  0.6
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  0.6
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  0.6
2015 Heidari A, Tongsook C, Najafipour R, Musante L, Vasli N, Garshasbi M, Hu H, Mittal K, McNaughton AJ, Sritharan K, Hudson M, Stehr H, Talebi S, Moradi M, Darvish H, ... ... Ropers HH, et al. Mutations in the Histamine N-Methyltransferase gene, HNMT, are Associated with Non-Syndromic Autosomal Recessive Intellectual Disability. Human Molecular Genetics. PMID 26206890 DOI: 10.1093/hmg/ddv286  0.6
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  0.6
2015 Hu H, Liu X, Jin W, Hilger Ropers H, Wienker TF. Evaluating information content of SNPs for sample-tagging in re-sequencing projects. Scientific Reports. 5: 10247. PMID 25975447 DOI: 10.1038/srep10247  0.6
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  0.6
2015 Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, D'heedene A, Bockaert N, Roelens F, Decaestecker K, ... ... Ropers HH, et al. Redefining the MED13L syndrome. European Journal of Human Genetics : Ejhg. PMID 25758992 DOI: 10.1038/ejhg.2015.26  0.6
2015 Frani? S, Groen-Blokhuis MM, Dolan CV, Kattenberg MV, Pool R, Xiao X, Scheet PA, Ehli EA, Davies GE, van der Sluis S, Abdellaoui A, Hansell NK, Martin NG, Hudziak JJ, van Beijsterveldt CE, ... ... Ropers HH, et al. Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait. European Journal of Human Genetics : Ejhg. PMID 25712083 DOI: 10.1038/ejhg.2015.3  0.6
2015 Iqbal Z, Willemsen MH, Papon MA, Musante L, Benevento M, Hu H, Venselaar H, Wissink-Lindhout WM, Vulto-van Silfhout AT, Vissers LE, de Brouwer AP, Marouillat S, Wienker TF, Ropers HH, Kahrizi K, et al. Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems. American Journal of Human Genetics. 96: 386-96. PMID 25704603 DOI: 10.1016/j.ajhg.2015.01.010  0.6
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  0.48
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  0.6
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  0.6
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  0.6
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  0.6
2014 Hu H, Wienker TF, Musante L, Kalscheuer VM, Kahrizi K, Najmabadi H, Ropers HH. Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations. Human Mutation. 35: 1427-35. PMID 25219469 DOI: 10.1002/humu.22695  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
2013 Starokadomskyy P, Gluck N, Li H, Chen B, Wallis M, Maine GN, Mao X, Zaidi IW, Hein MY, McDonald FJ, Lenzner S, Zecha A, Ropers HH, Kuss AW, McGaughran J, et al. CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling. The Journal of Clinical Investigation. 123: 2244-56. PMID 23563313 DOI: 10.1172/JCI66466  0.6
2013 Bainbridge MN, Hu H, Muzny DM, Musante L, Lupski JR, Graham BH, Chen W, Gripp KW, Jenny K, Wienker TF, Yang Y, Sutton VR, Gibbs RA, Ropers HH. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Medicine. 5: 11. PMID 23383720 DOI: 10.1186/gm415  0.6
2013 Papari E, Bastami M, Farhadi A, Abedini SS, Hosseini M, Bahman I, Mohseni M, Garshasbi M, Moheb LA, Behjati F, Kahrizi K, Ropers HH, Najmabadi H. Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations. Clinical Genetics. 83: 488-90. PMID 22989186 DOI: 10.1111/j.1399-0004.2012.01949.x  0.6
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  0.6
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  0.6
2012 Hucho T, Suckow V, Joseph EK, Kuhn J, Schmoranzer J, Dina OA, Chen X, Karst M, Bernateck M, Levine JD, Ropers HH. Ca++/CaMKII switches nociceptor-sensitizing stimuli into desensitizing stimuli. Journal of Neurochemistry. 123: 589-601. PMID 22891703 DOI: 10.1111/j.1471-4159.2012.07920.x  0.6
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  0.6
2012 Abbasi-Moheb L, Mertel S, Gonsior M, Nouri-Vahid L, Kahrizi K, Cirak S, Wieczorek D, Motazacker MM, Esmaeeli-Nieh S, Cremer K, Weißmann R, Tzschach A, Garshasbi M, Abedini SS, Najmabadi H, ... Ropers HH, et al. Mutations in NSUN2 cause autosomal-recessive intellectual disability. American Journal of Human Genetics. 90: 847-55. PMID 22541559 DOI: 10.1016/j.ajhg.2012.03.021  0.6
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  0.6
2012 Hosseini M, Garshasbi M, Hemmati S, Darvish H, Behjati F, Kuss A, Ropers H, Tzschach A, Najmabadi H, Kahrizi K. Clinical and molecular aspects of Sjogren-Larsson syndrome reported in an Iranian consanguineous family with triplet affected individuals Iranian Red Crescent Medical Journal. 14: 153-157.  0.6
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  0.6
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  0.6
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  0.6
2011 Kariminejad R, Lind-Thomsen A, Tümer Z, Erdogan F, Ropers HH, Tommerup N, Ullmann R, Møller RS. High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations. Human Mutation. 32: 1427-35. PMID 21882292 DOI: 10.1002/humu.21585  0.6
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  0.6
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  0.6
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  0.6
2011 Fullston T, Gabb B, Callen D, Ullmann R, Woollatt E, Bain S, Ropers HH, Cooper M, Chandler D, Carter K, Jablensky A, Kalaydjieva L, Gecz J. Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 156: 204-14. PMID 21302349 DOI: 10.1002/ajmg.b.31157  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
2010 Kim HG, Ahn JW, Kurth I, Ullmann R, Kim HT, Kulharya A, Ha KS, Itokawa Y, Meliciani I, Wenzel W, Lee D, Rosenberger G, Ozata M, Bick DP, Sherins RJ, ... ... Ropers HH, et al. WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. American Journal of Human Genetics. 87: 465-79. PMID 20887964 DOI: 10.1016/j.ajhg.2010.08.018  0.6
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  0.6
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  0.6
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  0.6
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  0.6
2010 Goswami C, Rademacher N, Smalla KH, Kalscheuer V, Ropers HH, Gundelfinger ED, Hucho T. TRPV1 acts as a synaptic protein and regulates vesicle recycling. Journal of Cell Science. 123: 2045-57. PMID 20483957 DOI: 10.1242/jcs.065144  0.6
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  0.6
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  0.6
2010 Ropers HH. Single gene disorders come into focus--again. Dialogues in Clinical Neuroscience. 12: 95-102. PMID 20373671  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
2010 Musante L, Kunde SA, Sulistio TO, Fischer U, Grimme A, Frints SG, Schwartz CE, Martínez F, Romano C, Ropers HH, Kalscheuer VM. Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon. Human Mutation. 31: 90-8. PMID 19847789 DOI: 10.1002/humu.21146  0.6
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  0.6
2010 Zanni G, van Esch H, Bensalem A, Saillour Y, Poirier K, Castelnau L, Ropers HH, de Brouwer AP, Laumonnier F, Fryns JP, Chelly J. A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation. Neurogenetics. 11: 251-5. PMID 19795139 DOI: 10.1007/s10048-009-0224-y  0.6
2010 Laumonnier F, Shoubridge C, Antar C, Nguyen LS, Van Esch H, Kleefstra T, Briault S, Fryns JP, Hamel B, Chelly J, Ropers HH, Ronce N, Blesson S, Moraine C, Gécz J, et al. Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism. Molecular Psychiatry. 15: 767-76. PMID 19238151 DOI: 10.1038/mp.2009.14  0.6
2010 Schröck E, Engels H, Rauch A, Rieß O, Ropers HH, Kohlhase J, Tönnies H, Reis A, Schulze B. Indication criteria and assessment of molecular karyotyping by means of microarray analyses for the genetic diagnosis of constitutional DNA modifications Bases for the implementation of the assessment of molecular karyotyping by means of microarray analysis in evidence-based medicine and the scale of fees for doctors | Indikationskriterien und bewertung der molekularen karyotypisierung mittels mikroarray-analysen für die genetische diagnostik konstitutioneller DNA-veränderungen ? grundlagen zur einführung der abrechnung der molekularen karyotypisierung mittels mikroarray-Analyse in den EBM und die GOÄ Medizinische Genetik. 22: 20-25. DOI: 10.1007/s11825-010-0210-7  0.6
2010 Ropers HH. Single gene disorders come into focus-again | Los trastornos por un gen único vuelven a estar en el foco de la investigación Dialogues in Clinical Neuroscience. 12: 91-98.  0.6
2010 Beier HM, Fehse B, Friedrich B, Götz M, Hansmann I, Hucho F, Köchy K, Müller-Röber B, Rheinberger HJ, Reich J, Ropers HH, Schöler HR, Schöne-Seifert B, Sperling K, Tanner K, et al. New methods in stem cell research: Reprogramming of differentiated body cells | Neue wege der stammzellforschung: Reprogrammierung von differenzierten körperzellen Journal Fur Reproduktionsmedizin Und Endokrinologie. 7: 68-77.  0.6
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  0.6
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  0.6
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  0.6
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  0.6
2009 Pouya AR, Abedini SS, Mansoorian N, Behjati F, Nikzat N, Mohseni M, Nieh SE, Abbasi Moheb L, Darvish H, Monajemi GB, Banihashemi S, Kahrizi K, Ropers HH, Najmabadi H. Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population. European Journal of Medical Genetics. 52: 170-3. PMID 19361583 DOI: 10.1016/j.ejmg.2009.03.014  0.6
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  0.6
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  0.6
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  0.6
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  0.6
2009 Ropers HH. Genetics of mental retardation: Introduction and overview | Genetik der geistigen Behinderung: Einführung und Überblick Medizinische Genetik. 21: 197-201. DOI: 10.1007/s11825-009-0162-y  0.6
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  0.6
2008 Erdogan F, Larsen LA, Zhang L, Tümer Z, Tommerup N, Chen W, Jacobsen JR, Schubert M, Jurkatis J, Tzschach A, Ropers HH, Ullmann R. High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease. Journal of Medical Genetics. 45: 704-9. PMID 18713793 DOI: 10.1136/jmg.2008.058776  0.6
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  0.6
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  0.6
2008 Tzschach A, Bozorgmehr B, Hadavi V, Kahrizi K, Garshasbi M, Motazacker MM, Ropers HH, Kuss AW, Najmabadi H. Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients. The British Journal of Dermatology. 159: 748-51. PMID 18616779 DOI: 10.1111/j.1365-2133.2008.08719.x  0.6
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  0.6
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  0.6
2008 Frints SG, Lenzner S, Bauters M, Jensen LR, Van Esch H, des Portes V, Moog U, Macville MV, van Roozendaal K, Schrander-Stumpel CT, Tzschach A, Marynen P, Fryns JP, Hamel B, van Bokhoven H, ... ... Ropers HH, et al. MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. European Journal of Human Genetics : Ejhg. 16: 1029-37. PMID 18398436 DOI: 10.1038/ejhg.2008.66  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
2008 Ropers HH. New perspectives for the clarification of genetic diseases | Neue perspektiven für die aufklärung von genetischen kranheiten Journal Fur Verbraucherschutz Und Lebensmittelsicherheit. 3: 18-24. DOI: 10.1007/s00003-008-0339-3  0.6
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  0.6
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  0.6
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  0.6
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  0.6
2007 Motazacker MM, Rost BR, Hucho T, Garshasbi M, Kahrizi K, Ullmann R, Abedini SS, Nieh SE, Amini SH, Goswami C, Tzschach A, Jensen LR, Schmitz D, Ropers HH, Najmabadi H, et al. A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. American Journal of Human Genetics. 81: 792-8. PMID 17847003 DOI: 10.1086/521275  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
2007 Tzschach A, Ropers HH. Genetics of mental retardation | Genetik der mentalen retardierung Deutsches Arzteblatt. 104: A1400-A1405.  0.6
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  0.6
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  0.6
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  0.6
2006 Müller D, Klopocki E, Neumann LM, Mundlos S, Taupitz M, Schulze I, Ropers HH, Querfeld U, Ullmann R. A complex phenotype with cystic renal disease Kidney International. 70: 1656-1660. PMID 16912708 DOI: 10.1038/sj.ki.5001746  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
2006 Hagens O, Minina E, Schweiger S, Ropers HH, Kalscheuer V. Characterization of FBX25, encoding a novel brain-expressed F-box protein Biochimica Et Biophysica Acta - General Subjects. 1760: 110-118. PMID 16278047 DOI: 10.1016/j.bbagen.2005.09.018  0.6
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  0.6
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  0.6
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  0.6
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  0.6
2006 Tzschach A, Ropers HH. X-linked mental retardation | X-chromosomale mentale retardierung Medizinische Genetik. 18: 187-193.  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
2005 Ropers HH, Hamel BC. X-linked mental retardation. Nature Reviews. Genetics. 6: 46-57. PMID 15630421 DOI: 10.1038/nrg1501  0.6
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  0.6
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  0.6
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  0.6
2004 Mandel JL, Salomons GS, Ropers HH. Comparative frequency of fragile-X (FMR1) and creatine transporter (SLC6A8) mutations in X-linked mental retardation [3] (multiple letters) American Journal of Human Genetics. 75: 730-732. PMID 15338463 DOI: 10.1086/424821  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
2003 Bienvenu T, Poirier K, Van Esch H, Hamel B, Moraine C, Fryns JP, Ropers HH, Beldjord C, Yntema HG, Chelly J. Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation Journal of Medical Genetics. 40: 357-359. PMID 12746399  0.6
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  0.6
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  0.4
2002 Lenzner S, Prietz S, Feil S, Nuber UA, Ropers HH, Berger W. Global gene expression analysis in a mouse model for Norrie disease: late involvement of photoreceptor cells. Investigative Ophthalmology & Visual Science. 43: 2825-33. PMID 12202498  0.4
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  0.8
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  0.8
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  0.8
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  0.8
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  0.8
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  0.8
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  0.8
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  0.8
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  0.6
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  0.8
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  0.8
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  0.8
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  0.8
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  0.8
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  0.8
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  0.8
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  0.8
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  0.64
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  0.8
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  0.8
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  0.8
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  0.8
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  0.8
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  0.8
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  0.8
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  0.64
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  0.64
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  0.8
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  0.6
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  0.8
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  0.64
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  0.6
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  0.6
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  0.6
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/ng0992-84  0.8
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  0.64
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  0.64
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  0.76
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  0.64
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  0.64
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  0.64
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  0.64
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  0.64
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  0.6
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  0.6
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  0.6
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  0.6
Show low-probability matches.