| Year |
Citation |
Score |
| 2023 |
Rao AR, Nazir A, Imtiaz S, Paracha SA, Waryah YM, Ujjan ID, Anwar I, Iqbal A, Santoni FA, Shah I, Gul K, Baig HMA, Waryah AM, Antonarakis SE, Ansar M. Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees. Genes. 14. PMID 36833331 DOI: 10.3390/genes14020404 |
0.3 |
|
| 2022 |
Ma C, Chen N, Jolly A, Zhao S, Coban-Akdemir Z, Tian W, Kang J, Ye Y, Wang Y, Koch A, Zhang Y, Qin C, Bonilla X, Borel C, Rall K, ... ... Antonarakis SE, et al. Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 36112137 DOI: 10.1016/j.gim.2022.08.012 |
0.741 |
|
| 2021 |
Chen N, Zhao S, Jolly A, Wang L, Pan H, Yuan J, Chen S, Koch A, Ma C, Tian W, Jia Z, Kang J, Zhao L, Qin C, Fan X, ... ... Antonarakis SE, et al. Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome. American Journal of Human Genetics. PMID 33434492 DOI: 10.1016/j.ajhg.2020.12.014 |
0.749 |
|
| 2021 |
Chen N, Zhao S, Jolly A, Wang L, Pan H, Yuan J, Chen S, Koch A, Ma C, Tian W, Jia Z, Kang J, Zhao L, Qin C, Fan X, ... ... Antonarakis SE, et al. Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome. American Journal of Human Genetics. PMID 33434492 DOI: 10.1016/j.ajhg.2020.12.014 |
0.749 |
|
| 2018 |
Nikolaev SI, Vetiska S, Bonilla X, Boudreau E, Jauhiainen S, Rezai Jahromi B, Khyzha N, DiStefano PV, Suutarinen S, Kiehl TR, Mendes Pereira V, Herman AM, Krings T, Andrade-Barazarte H, Tung T, ... ... Antonarakis SE, et al. Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain. The New England Journal of Medicine. PMID 29298116 DOI: 10.1056/Nejmoa1709449 |
0.732 |
|
| 2016 |
Bonilla X, Parmentier L, King B, Bezrukov F, Kaya G, Zoete V, Seplyarskiy VB, Sharpe HJ, McKee T, Letourneau A, Ribaux PG, Popadin K, Basset-Seguin N, Chaabene RB, Santoni FA, ... ... Antonarakis SE, et al. Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma. Nature Genetics. 48: 398-406. PMID 26950094 DOI: 10.1038/Ng.3525 |
0.756 |
|
| 2015 |
Letourneau A, Santoni FA, Bonilla X, Reza Sailani M, Gonzalez D, Kind J, Chevalier C, Thurman R, Sandstrom RS, Hibaoui Y, Garieri M, Popadin K, Falconnet E, Gagnebin M, Gehrig C, ... ... Antonarakis SE, et al. Corrigendum: Domains of genome-wide gene expression dysregulation in Down's syndrome. Nature. PMID 26633627 DOI: 10.1038/Nature16135 |
0.722 |
|
| 2015 |
Calvel P, Kusz-Zamelczyk K, Makrythanasis P, Janecki D, Borel C, Conne B, Vannier A, Béna F, Gimelli S, Fichna P, Antonarakis SE, Nef S, Jaruzelska J. A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis. Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation. PMID 26544196 DOI: 10.1159/000441512 |
0.333 |
|
| 2015 |
Calvel P, Kusz-Zamelczyk K, Makrythanasis P, Janecki D, Borel C, Conne B, Vannier A, Béna F, Gimelli S, Fichna P, Antonarakis SE, Nef S, Jaruzelska J. A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis. Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation. PMID 26544196 DOI: 10.1159/000441512 |
0.333 |
|
| 2015 |
Sailani MR, Santoni FA, Letourneau A, Borel C, Makrythanasis P, Hibaoui Y, Popadin K, Bonilla X, Guipponi M, Gehrig C, Vannier A, Carre-Pigeon F, Feki A, Nizetic D, Antonarakis SE. DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins. Plos One. 10: e0135555. PMID 26317209 DOI: 10.1371/journal.pone.0135555 |
0.729 |
|
| 2014 |
Guipponi M, Santoni FA, Setola V, Gehrig C, Rotharmel M, Cuenca M, Guillin O, Dikeos D, Georgantopoulos G, Papadimitriou G, Curtis L, Méary A, Schürhoff F, Jamain S, Avramopoulos D, ... ... Antonarakis SE, et al. Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes. Plos One. 9: e112745. PMID 25420024 DOI: 10.1371/Journal.Pone.0112745 |
0.366 |
|
| 2014 |
Letourneau A, Santoni FA, Bonilla X, Sailani MR, Gonzalez D, Kind J, Chevalier C, Thurman R, Sandstrom RS, Hibaoui Y, Garieri M, Popadin K, Falconnet E, Gagnebin M, Gehrig C, ... ... Antonarakis SE, et al. Domains of genome-wide gene expression dysregulation in Down's syndrome. Nature. 508: 345-50. PMID 24740065 DOI: 10.1038/Nature13200 |
0.746 |
|
| 2012 |
Radhakrishna U, Ratnamala U, Deutsch S, Bartoloni L, Kuracha MR, Singh R, Banwait J, Bastola DK, Johar K, Nath SK, Antonarakis SE. Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus. European Journal of Human Genetics : Ejhg. 20: 1032-6. PMID 22490987 DOI: 10.1038/ejhg.2012.60 |
0.312 |
|
| 2011 |
Ratnamala U, Lyle R, Rawal R, Singh R, Vishnupriya S, Himabindu P, Rao V, Aggarwal S, Paluru P, Bartoloni L, Young TL, Paoloni-Giacobino A, Morris MA, Nath SK, Antonarakis SE, et al. Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing. Investigative Ophthalmology & Visual Science. 52: 6814-9. PMID 21357393 DOI: 10.1167/iovs.10-6815 |
0.329 |
|
| 2009 |
Makrythanasis P, Kapranov P, Bartoloni L, Reymond A, Deutsch S, Guigó R, Denoeud F, Drenkow J, Rossier C, Ariani F, Capra V, Excoffier L, Renieri A, Gingeras TR, Antonarakis SE. Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls. Human Mutation. 30: E866-79. PMID 19562714 DOI: 10.1002/Humu.21073 |
0.326 |
|
| 2008 |
Fokstuen S, Lyle R, Munoz A, Gehrig C, Lerch R, Perrot A, Osterziel KJ, Geier C, Beghetti M, Mach F, Sztajzel J, Sigwart U, Antonarakis SE, Blouin JL. A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy. Human Mutation. 29: 879-85. PMID 18409188 DOI: 10.1002/humu.20749 |
0.312 |
|
| 2008 |
Friedli M, Nikolaev S, Lyle R, Arcangeli M, Duboule D, Spitz F, Antonarakis SE. Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 19: 272-8. PMID 18392654 DOI: 10.1007/S00335-008-9106-0 |
0.353 |
|
| 2007 |
Prandini P, Deutsch S, Lyle R, Gagnebin M, Vivier CD, Delorenzi M, Gehrig C, Descombes P, Sherman S, Bricarelli FD, Baldo C, Novelli A, Dallapiccola B, Antonarakis SE. Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance American Journal of Human Genetics. 81: 252-263. PMID 17668376 DOI: 10.1086/519248 |
0.302 |
|
| 2006 |
Lyle R, Radhakrishna U, Blouin JL, Gagos S, Everman DB, Gehrig C, Delozier-Blanchet C, Solanki JV, Patel UC, Nath SK, Gurrieri F, Neri G, Schwartz CE, Antonarakis SE. Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region. American Journal of Medical Genetics. Part A. 140: 1384-95. PMID 16691619 DOI: 10.1002/ajmg.a.31247 |
0.35 |
|
| 2006 |
Bonafé L, Dermitzakis ET, Unger S, Greenberg CR, Campos-Xavier BA, Zankl A, Ucla C, Antonarakis SE, Superti-Furga A, Reymond A. Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. Plos Genetics. 1: e47. PMID 16244706 DOI: 10.1371/JOURNAL.PGEN.0010047 |
0.31 |
|
| 2005 |
Deutsch S, Lyle R, Dermitzakis ET, Attar H, Subrahmanyan L, Gehrig C, Parand L, Gagnebin M, Rougemont J, Jongeneel CV, Antonarakis SE. Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes Human Molecular Genetics. 14: 3741-3749. PMID 16251198 DOI: 10.1093/hmg/ddi404 |
0.314 |
|
| 2004 |
Lyle R, Gehrig C, Neergaard-Henrichsen C, Deutsch S, Antonarakis SE. Gene expression from the aneuploid chromosome in a trisomy mouse model of Down syndrome Genome Research. 14: 1268-1274. PMID 15231743 DOI: 10.1101/gr.2090904 |
0.305 |
|
| 2004 |
Weinhaeusel A, Morris MA, Antonarakis SE, Haas OA. DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg. Human Mutation. 22: 404-8. PMID 14517952 DOI: 10.1002/HUMU.10276 |
0.304 |
|
| 2003 |
de Mollerat XJ, Gurrieri F, Morgan CT, Sangiorgi E, Everman DB, Gaspari P, Amiel J, Bamshad MJ, Lyle R, Blouin JL, Allanson JE, Le Marec B, Wilson M, Braverman NE, Radhakrishna U, ... ... Antonarakis S, et al. A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. Human Molecular Genetics. 12: 1959-71. PMID 12913067 DOI: 10.1093/hmg/ddg212 |
0.385 |
|
| 2003 |
Chen H, Wang N, Huo Y, Sklar P, MacKinnon DF, Potash JB, McMahon FJ, Antonarakis SE, DePaulo JR, Ross CA, McInnis MG. Trapping and sequence analysis of 1138 putative exons from human chromosome 18. Molecular Psychiatry. 8: 619-23. PMID 12851638 DOI: 10.1038/Sj.Mp.4001288 |
0.338 |
|
| 2003 |
Buchet-Poyau K, Mehenni H, Radhakrishna U, Antonarakis SE. Search for the second Peutz-Jeghers syndrome locus: exclusion of the STK13, PRKCG, KLK10, and PSCD2 genes on chromosome 19 and the STK11IP gene on chromosome 2. Cytogenetic and Genome Research. 97: 171-8. PMID 12438709 DOI: 10.1159/000066620 |
0.385 |
|
| 2002 |
Bartoloni L, Blouin JL, Pan Y, Gehrig C, Maiti AK, Scamuffa N, Rossier C, Jorissen M, Armengot M, Meeks M, Mitchison HM, Chung EM, Delozier-Blanchet CD, Craigen WJ, Antonarakis SE. Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proceedings of the National Academy of Sciences of the United States of America. 99: 10282-6. PMID 12142464 DOI: 10.1073/pnas.152337699 |
0.397 |
|
| 2002 |
Spitz F, Montavon T, Monso-Hinard C, Morris M, Ventruto ML, Antonarakis S, Ventruto V, Duboule D. A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects. Genomics. 79: 493-8. PMID 11944980 DOI: 10.1006/Geno.2002.6735 |
0.344 |
|
| 2002 |
Wattenhofer M, Di Iorio MV, Rabionet R, Dougherty L, Pampanos A, Schwede T, Montserrat-Sentis B, Arbones ML, Iliades T, Pasquadibisceglie A, D'Amelio M, Alwan S, Rossier C, Dahl HH, Petersen MB, ... ... Antonarakis SE, et al. Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. Journal of Molecular Medicine (Berlin, Germany). 80: 124-31. PMID 11907649 DOI: 10.1007/S00109-001-0310-6 |
0.346 |
|
| 2001 |
Reymond A, Friedli M, Henrichsen CN, Chapot F, Deutsch S, Ucla C, Rossier C, Lyle R, Guipponi M, Antonarakis SE. From PREDs and open reading frames to cDNA isolation: Revisiting the human chromosome 21 transcription map Genomics. 78: 46-54. PMID 11707072 DOI: 10.1006/geno.2001.6640 |
0.307 |
|
| 2001 |
Heino M, Peterson P, Kudoh J, Shimizu N, Antonarakis SE, Scott HS, Krohn K. APECED mutations in the autoimmune regulator (AIRE) gene. Human Mutation. 18: 205-11. PMID 11524731 DOI: 10.1002/HUMU.1176 |
0.302 |
|
| 2001 |
Marneros AG, Mehenni H, Reichenberger E, Antonarakis SE, Krieg T, Olsen BR. Gene for the human transmembrane-type protein tyrosine phosphatase H (PTPRH): Genomic structure, fine-mapping and its exclusion as a candidate for Peutz-Jeghers syndrome Cytogenetics and Cell Genetics. 92: 213-216. PMID 11435690 DOI: 10.1159/000056905 |
0.372 |
|
| 2001 |
Neerman-Arbez M, Moerloose PD, Honsberger A, Parlier G, Arnuti B, Biron C, Borg J-, Eber S, Meili E, Peter-Salonen K, Ripoll L, Vervel C, D'oiron R, Staeger P, Antonarakis SE, et al. Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes. Human Genetics. 108: 237-240. PMID 11354637 DOI: 10.1007/S004390100469 |
0.33 |
|
| 2001 |
Bartoloni L, Blouin JL, Maiti AK, Sainsbury A, Rossier C, Gehrig C, She JX, Marron MP, Lander ES, Meeks M, Chung E, Armengot M, Jorissen M, Scott HS, Delozier-Blanchet CD, ... ... Antonarakis SE, et al. Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia. Genomics. 72: 21-33. PMID 11247663 DOI: 10.1006/geno.2000.6462 |
0.305 |
|
| 2001 |
Antonarakis SE, Krawczak M, Cooper DN. Disease-causing mutations in the human genome. European Journal of Pediatrics. S173-8. PMID 11216894 DOI: 10.1007/PL00014395 |
0.304 |
|
| 2001 |
Deutsch S, Iseli C, Bucher P, Antonarakis SE, Scott HS. A cSNP map and database for human chromosome 21. Genome Research. 11: 300-7. PMID 11157793 DOI: 10.1101/GR.164901 |
0.306 |
|
| 2001 |
Scott HS, Kudoh J, Wattenhofer M, Shibuya K, Berry A, Chrast R, Guipponi M, Wang J, Kawasaki K, Asakawa S, Minoshima S, Younus F, Mehdi SQ, Radhakrishna U, Papasavvas MP, ... ... Antonarakis SE, et al. Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Nature Genetics. 27: 59-63. PMID 11137999 DOI: 10.1038/83768 |
0.338 |
|
| 2000 |
Pulver AE, Mulle J, Nestadt G, Swartz KL, Blouin JL, Dombroski B, Liang KY, Housman DE, Kazazian HH, Antonarakis SE, Lasseter VK, Wolyniec PS, Thornquist MH, McGrath JA. Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes. Molecular Psychiatry. 5: 650-3. PMID 11126395 DOI: 10.1038/Sj.Mp.4000814 |
0.615 |
|
| 2000 |
Bartoloni L, Wattenhofer M, Kudoh J, Berry A, Shibuya K, Kawasaki K, Wang J, Asakawa S, Talior I, Bonne-Tamir B, Rossier C, Michaud J, McCabe ER, Minoshima S, Shimizu N, ... ... Antonarakis SE, et al. Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency. Genomics. 70: 190-200. PMID 11112347 DOI: 10.1006/geno.2000.6395 |
0.389 |
|
| 2000 |
Maiti AK, Bartoloni L, Mitchison HM, Meeks M, Chung E, Spiden S, Gehrig C, Rossier C, DeLozier-Blanchet CD, Blouin J, Gardiner RM, Antonarakis SE. No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD). Cytogenetics and Cell Genetics. 90: 119-22. PMID 11060460 DOI: 10.1159/000015645 |
0.351 |
|
| 2000 |
Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, Totoki Y, Choi DK, Groner Y, Soeda E, Ohki M, Takagi T, Sakaki Y, ... ... Antonarakis SE, et al. The DNA sequence of human chromosome 21. Nature. 405: 311-9. PMID 10830953 DOI: 10.1038/35012518 |
0.307 |
|
| 2000 |
Neerman-Arbez M, Antonarakis SE, Honsberger A, Morris MA. The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster. European Journal of Human Genetics : Ejhg. 7: 897-902. PMID 10602365 DOI: 10.1038/sj.ejhg.5200395 |
0.355 |
|
| 1999 |
Roessler E, Mittaz L, Du Y, Scott HS, Chang J, Rossier C, Guipponi M, Matsuda SP, Muenke M, Antonarakis S. Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1). Human Genetics. 105: 489-495. PMID 10598817 DOI: 10.1007/S004390051135 |
0.379 |
|
| 1999 |
Chen H, Rossier C, Morris MA, Scott HS, Gos A, Bairoch A, Antonarakis SE. A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y. Human Genetics. 105: 399-409. PMID 10598804 DOI: 10.1007/s004390051122 |
0.32 |
|
| 1999 |
Antonarakis SE, Blouin JL, Lasseter VK, Gehrig C, Radhakrishna U, Nestadt G, Housman DE, Kazazian HH, Kalman K, Gutman G, Fantino E, Chandy KG, Gargus JJ, Pulver AE. Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21. American Journal of Medical Genetics. 88: 348-51. PMID 10402501 DOI: 10.1002/(Sici)1096-8628(19990820)88:4<348::Aid-Ajmg11>3.0.Co;2-N |
0.651 |
|
| 1999 |
Neerman-Arbez M, Honsberger A, Antonarakis SE, Morris MA. Deletion of the fibrinogen [correction of fibrogen] alpha-chain gene (FGA) causes congenital afibrogenemia. The Journal of Clinical Investigation. 103: 215-8. PMID 9916133 DOI: 10.1172/JCI5471 |
0.332 |
|
| 1999 |
Heino M, Scott HS, Chen Q, Peterson P, Mäebpää U, Papasavvas MP, Mittaz L, Barras C, Rossier C, Chrousos GP, Stratakis CA, Nagamine K, Kudoh J, Shimizu N, Maclaren N, ... Antonarakis SE, et al. Mutation analyses of North American APS-1 patients. Human Mutation. 13: 69-74. PMID 9888391 DOI: 10.1002/(SICI)1098-1004(1999)13:1<69::AID-HUMU8>3.0.CO;2-6 |
0.309 |
|
| 1999 |
Neerman-Arbez M, Johnson K, Morris M, McVey J, Peyvandi F, Nichols W, Ginsburg D, Rossier C, Antonarakis S, Tuddenham E. Molecular Analysis of the ERGIC-53 Gene in 35 Families With Combined Factor V-Factor VIII Deficiency Blood. 93: 2253-2260. DOI: 10.1182/BLOOD.V93.7.2253 |
0.361 |
|
| 1998 |
Theophilus BD, Enayat MS, Higuchi M, Kazazian H, Antonarakis SE, Hill FG. Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophila A with different phenotypes. Mutations in brief no. 126. Online. Human Mutation. 11: 334. PMID 10215414 DOI: 10.1002/(Sici)1098-1004(1998)11:4<334::Aid-Humu20>3.0.Co;2-# |
0.661 |
|
| 1998 |
Blouin JL, Dombroski BA, Nath SK, Lasseter VK, Wolyniec PS, Nestadt G, Thornquist M, Ullrich G, McGrath J, Kasch L, Lamacz M, Thomas MG, Gehrig C, Radhakrishna U, Snyder SE, ... ... Antonarakis S, et al. Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21. Nature Genetics. 20: 70-3. PMID 9731535 DOI: 10.1038/1734 |
0.618 |
|
| 1998 |
Vallada H, Curtis D, Sham P, Kunugi H, Zhao J, Murray R, McGuffin P, Nanko S, Owen M, Gill M, Collier D, Antonarakis S, Housman D, Kazazian H, Nestadt G, et al. A transmission disequilibrium and linkage analysis of D22S278 marker alleles in 574 families: further support for a susceptibility locus for schizophrenia at 22q12 Schizophrenia Research. 32: 115-121. PMID 9713907 DOI: 10.1016/S0920-9964(98)00048-6 |
0.628 |
|
| 1998 |
Vargas FR, Roessler E, Gaudenz K, Belloni E, Whitehead AS, Kirke PN, Mills JL, Hooper G, Stevenson RE, Cordeiro I, Correia P, Felix T, Gereige R, Cunningham ML, Canún S, ... Antonarakis SE, et al. Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly. Human Genetics. 102: 387-92. PMID 9600232 DOI: 10.1007/S004390050709 |
0.342 |
|
| 1998 |
Blouin JL, Duriaux Saïl G, Guipponi M, Rossier C, Pappasavas MP, Antonarakis SE. Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1. Human Genetics. 102: 282-8. PMID 9544839 |
0.334 |
|
| 1998 |
Karayiorgou M, Gogos JA, Galke BL, Wolyniec PS, Nestadt G, Antonarakis SE, Kazazian HH, Housman DE, Pulver AE. Identification of sequence variants and analysis of the role of the catechol-O-methyl-transferase gene in schizophrenia susceptibility. Biological Psychiatry. 43: 425-31. PMID 9532347 DOI: 10.1016/S0006-3223(97)00202-3 |
0.653 |
|
| 1998 |
Chen H, Antonarakis SE. The SH3D1A gene maps to human chromosome 21q22.1-->q22.2. Cytogenetics and Cell Genetics. 78: 213-5. PMID 9465890 DOI: 10.1159/000134659 |
0.31 |
|
| 1998 |
Scott HS, Kyriakou DS, Peterson P, Heino M, Tähtinen M, Krohn K, Chen H, Rossier C, Lalioti MD, Antonarakis SE. Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis. Genomics. 47: 64-70. PMID 9465297 DOI: 10.1006/geno.1997.5066 |
0.354 |
|
| 1998 |
Villard J, Reith W, Barras E, Gos A, Morris MA, Antonarakis SE, Van den Elsen PJ, Mach B. Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency. Human Mutation. 10: 430-5. PMID 9401005 DOI: 10.1002/(SICI)1098-1004(1997)10:6<430::AID-HUMU3>3.0.CO;2-H |
0.313 |
|
| 1998 |
Theophilus BDM, Enayat MS, Higuchi M, Kazazian HH, Antonarakis SE, Hill FGH. Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes Human Mutation. 11: 334-334. DOI: 10.1002/(Sici)1098-1004(1998)11:4<334::Aid-Humu21>3.0.Co;2-X |
0.661 |
|
| 1997 |
Paoloni-Giacobino A, Chen H, Antonarakis SE. Cloning of a novel human neural cell adhesion molecule gene (NCAM2) that maps to chromosome region 21q21 and is potentially involved in Down syndrome. Genomics. 43: 43-51. PMID 9226371 DOI: 10.1006/GENO.1997.4782 |
0.32 |
|
| 1997 |
Chen H, Rossier C, Nakamura Y, Lynn A, Chakravarti A, Antonarakis SE. Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3. Genomics. 41: 193-200. PMID 9143494 DOI: 10.1006/Geno.1997.4632 |
0.351 |
|
| 1997 |
Lalioti MD, Scott HS, Buresi C, Rossier C, Bottani A, Morris MA, Malafosse A, Antonarakis SE. Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature. 386: 847-51. PMID 9126745 DOI: 10.1038/386847A0 |
0.341 |
|
| 1997 |
Chen H, Antonarakis SE. Localisation of a human homologue of the Drosophila mnb and rat Dyrk genes to chromosome 21q22.2. Human Genetics. 99: 262-5. PMID 9048932 DOI: 10.1007/s004390050350 |
0.334 |
|
| 1997 |
Chen H, Rossier C, Antonarakis SE. Cloning of a human homolog of the Drosophila enhancer of zeste gene (EZH2) that maps to chromosome 21q22.2. Genomics. 38: 30-7. PMID 8954776 DOI: 10.1006/GENO.1996.0588 |
0.341 |
|
| 1997 |
Chen H, Bouras C, Antonarakis SE. Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2-q22.3. Human Genetics. 98: 672-7. PMID 8931698 DOI: 10.1007/s004390050282 |
0.303 |
|
| 1997 |
Chen H, Chrast R, Rossier C, Morris MA, Lalioti MD, Antonarakis SE. Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping. Genome Research. 6: 747-60. PMID 8858350 DOI: 10.1101/GR.6.8.747 |
0.303 |
|
| 1996 |
Karayiorgou M, Gogos JA, Galke BL, Jeffery JA, Nestadt G, Wolyniec PS, Antonarakis SE, Kazazian HH, Housman DE, Driscoll DA, Pulver AE. Genotype and phenotype analysis at the 22q11 schizophrenia susceptibility locus. Cold Spring Harbor Symposia On Quantitative Biology. 61: 835-43. PMID 9246508 DOI: 10.1101/Sqb.1996.061.01.082 |
0.605 |
|
| 1996 |
Pulver AE, Wolyniec PS, Housman D, Kazazian HH, Antonarakis SE, Nestadt G, Lasseter VK, McGrath JA, Dombroski B, Karayiorgou M, Ton C, Blouin JL, Kempf L. The Johns Hopkins University Collaborative Schizophrenia Study: an epidemiologic-genetic approach to test the heterogeneity hypothesis and identify schizophrenia susceptibility genes. Cold Spring Harbor Symposia On Quantitative Biology. 61: 797-814. PMID 9246505 DOI: 10.1101/Sqb.1996.061.01.079 |
0.591 |
|
| 1996 |
Wildenauer DB, Schwab SG, Albus M, Hallmayer J, Lerer B, Maier W, Blackwood D, Muir W, Clair DS, Morris S, Moises HW, Yang L, Kristbjarnarson H, Helgason T, Wiese C, ... ... Antonarakis SE, et al. Additional support for schizophrenia linkage on chromosomes 6 and 8: A multicenter study American Journal of Medical Genetics. 67: 580-594. PMID 8950417 DOI: 10.1002/(Sici)1096-8628(19961122)67:6<580::Aid-Ajmg11>3.0.Co;2-P |
0.605 |
|
| 1996 |
Gill M, Vallada H, Collier D, Sham P, Holmans P, Murray R, McGuffin P, Nanko S, Owen M, Antonarakis S, Housman D, Kazazian H, Nestadt G, Pulver AE, Straub RE, et al. A combined analysis of D22S278 marker alleles in affected sib-pairs: support for a susceptibility locus for schizophrenia at chromosome 22q12. Schizophrenia Collaborative Linkage Group (Chromosome 22). American Journal of Medical Genetics. 67: 40-5. PMID 8678112 DOI: 10.1002/(Sici)1096-8628(19960216)67:1<40::Aid-Ajmg6>3.0.Co;2-W |
0.618 |
|
| 1996 |
Lalioti MD, Chen H, Rossier C, Shafaatian R, Reid JD, Antonarakis SE. Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3. Genomics. 35: 321-7. PMID 8661145 DOI: 10.1006/geno.1996.0363 |
0.304 |
|
| 1996 |
Blouin JL, Duriaux-Sail G, Chen H, Gos A, Morris MA, Rossier C, Antonarakis SE. Mapping of the gene for the p60 subunit of the human chromatin assembly factor (CAF1A) to the Down syndrome region of chromosome 21. Genomics. 33: 309-12. PMID 8660983 DOI: 10.1006/geno.1996.0199 |
0.34 |
|
| 1996 |
Lalioti MD, Gos A, Green MR, Rossier C, Morris MA, Antonarakis SE. The gene for human U2 snRNP auxiliary factor small 35-kDa subunit (U2AF1) maps to the progressive myoclonus epilepsy (EPM1) critical region on chromosome 21q22.3. Genomics. 33: 298-300. PMID 8660980 DOI: 10.1006/Geno.1996.0196 |
0.351 |
|
| 1996 |
Young M, Chen H, Lalioti MD, Antonarakis SE. The human lanosterol synthase gene maps to chromosome 21q22.3. Human Genetics. 97: 620-4. PMID 8655142 DOI: 10.1007/BF02281872 |
0.304 |
|
| 1996 |
Chen H, Antonarakis SE. Localization of a human homolog of the mouse Tiam-1 gene to chromosome 21q22.1. Genomics. 30: 123-7. PMID 8595894 DOI: 10.1006/GENO.1995.0025 |
0.334 |
|
| 1996 |
Wacey AI, Kemball-Cook G, Kazazian HH, Antonarakis SE, Schwaab R, Lindley P, Tuddenham EGD. The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS. Nucleic Acids Research. 24: 100-102. PMID 8594555 DOI: 10.1093/Nar/24.1.100 |
0.593 |
|
| 1996 |
Dombroski BA, Ton CC, Lasseter VK, Snyder SE, Wolyniec P, Nestadt G, Antonarakis SE, Blouin JL, Curran M, Loetscher E, Karayiorgou M, Luebbert H, Housman D, Kazazian HH, Pulver AE. Narrowing of a susceptibility region for schizophrenia on chromosome 8P21-P22 to within 4MB Psychiatric Genetics. 6: 139. DOI: 10.1097/00041444-199623000-00015 |
0.592 |
|
| 1996 |
Antonarakis SE, Blouin JL, Curran M, Luebbert H, Kazazian HH, Dombroski B, Housman D, Ton C, Karayiorgou M, Chakravarti A, Wolyniec P, Lasseter VK, Nestadt G, Pulver AE. Linkage and sib-pair analysis reveal a potential schizophrenia susceptibility gene on chromosome 13q32 Psychiatric Genetics. 6: 136. DOI: 10.1097/00041444-199623000-00009 |
0.644 |
|
| 1995 |
Antonarakis SE, Kazazian HH, Gitschier J, Hutter P, de Moerloose P, Morris MA. Molecular etiology of factor VIII deficiency in hemophilia A. Advances in Experimental Medicine and Biology. 386: 19-34. PMID 8851012 DOI: 10.1007/978-1-4613-0331-2_2 |
0.625 |
|
| 1995 |
Antonarakis SE, Kazazian HH, Tuddenham EGD. Molecular etiology of factor VIII deficiency in hemophilia A. Human Mutation. 5: 1-22. PMID 7728145 DOI: 10.1002/Humu.1380050102 |
0.643 |
|
| 1995 |
Antonarakis SE, Rossiter JP, Young M, Horst J, de Moerloose P, Sommer SS, Ketterling RP, Kazazian HH, Négrier C, Vinciguerra C, Gitschier J, Goossens M, Girodon E, Ghanem N, Plassa F, et al. Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood. 86: 2206-12. PMID 7662970 |
0.615 |
|
| 1995 |
Bi L, Lawler AM, Antonarakis SE, High KA, Gearhart JD, Kazazian HH. Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A Nature Genetics. 10: 119-121. PMID 7647782 DOI: 10.1038/Ng0595-119 |
0.612 |
|
| 1995 |
Chrast R, Chen H, Morris MA, Antonarakis SE. Mapping of the human transcription factor GABPA (E4TF1-60) gene to chromosome 21. Genomics. 28: 119-22. PMID 7590737 DOI: 10.1006/GENO.1995.1117 |
0.341 |
|
| 1995 |
Antonarakis SE, Blouin JL, Pulver AE, Wolyniec P, Lasseter VK, Nestadt G, Kasch L, Babb R, Kazazian HH, Dombroski B. Schizophrenia susceptibility and chromosome 6p24-22. Nature Genetics. 11: 235-6. PMID 7581443 DOI: 10.1038/Ng1195-235 |
0.595 |
|
| 1995 |
Lutfalla G, McInnis MG, Antonarakis SE, Uzé G. Structure of the human CRFB4 gene: comparison with its IFNAR neighbor. Journal of Molecular Evolution. 41: 338-44. PMID 7563119 DOI: 10.1007/BF00186545 |
0.323 |
|
| 1995 |
Lasseter VK, Pulver AE, Wolyniec PS, Nestadt G, Meyers D, Karayiorgou M, Housman D, Antonarakis S, Kazazian H, Kasch L. Follow-up report of potential linkage for schizophrenia on chromosome 22q: Part 3. American Journal of Medical Genetics. 60: 172-3. PMID 7485255 DOI: 10.1002/Ajmg.1320600217 |
0.602 |
|
| 1994 |
Pulver AE, Karayiorgou M, Wolyniec PS, Lasseter VK, Kasch L, Nestadt G, Antonarakis S, Housman D, Kazazian HH, Meyers D. Sequential strategy to identify a susceptibility gene for schizophrenia: report of potential linkage on chromosome 22q12-q13.1: Part 1. American Journal of Medical Genetics. 54: 36-43. PMID 8178837 DOI: 10.1002/Ajmg.1320540108 |
0.63 |
|
| 1994 |
Celi FS, Cohen MM, Antonarakis SE, Wertheimer E, Roth J, Shuldiner AR. Determination of gene dosage by a quantitative adaptation of the polymerase chain reaction (gd-PCR): rapid detection of deletions and duplications of gene sequences. Genomics. 21: 304-10. PMID 8088823 DOI: 10.1006/GENO.1994.1270 |
0.342 |
|
| 1994 |
Pulver AE, Karayiorgou M, Lasseter VK, Wolyniec P, Kasch L, Antonarakis S, Housman D, Kazazian HH, Meyers D, Nestadt G. Follow-up of a report of a potential linkage for schizophrenia on chromosome 22q12-q13.1: Part 2. American Journal of Medical Genetics. 54: 44-50. PMID 7909990 DOI: 10.1002/Ajmg.1320540109 |
0.624 |
|
| 1993 |
Migeon BR, McGinniss MJ, Antonarakis SE, Axelman J, Stasiowski BA, Youssoufian H, Kearns WG, Chung A, Pearson PL, Kazazian HH, Muneer RS. Severe Hemophilia A in a Female by Cryptic Translocation: Order and Orientation of Factor VIII within Xq28 Genomics. 16: 20-25. PMID 8486358 DOI: 10.1006/Geno.1993.1134 |
0.642 |
|
| 1993 |
McGinniss MJ, Kazazian HH, Hoyer LW, Bi L, Inaba H, Antonarakis SE. Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A. Genomics. 15: 392-398. PMID 8449505 DOI: 10.1006/Geno.1993.1073 |
0.641 |
|
| 1993 |
Avramopoulos D, Chakravarti A, Antonarakis SE. DNA polymorphisms in the 3' untranslated region of genes on human chromosome 21. Genomics. 15: 98-102. PMID 8432556 DOI: 10.1006/Geno.1993.1015 |
0.342 |
|
| 1993 |
McGinniss MJ, Rosenberg C, Stetten G, Schinzel AA, Binkert F, Petersen MB, Kearns WG, Kazazian HH, Pearson PL, Antonarakis SE. Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21. American Journal of Medical Genetics. 46: 647-651. PMID 8362906 DOI: 10.1002/Ajmg.1320460609 |
0.612 |
|
| 1993 |
Li SH, McInnis MG, Margolis RL, Antonarakis SE, Ross CA. Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms. Genomics. 16: 572-9. PMID 8325628 DOI: 10.1006/Geno.1993.1232 |
0.317 |
|
| 1993 |
Lakich D, Kazazian HH, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A Nature Genetics. 5: 236-241. PMID 8275087 DOI: 10.1038/Ng1193-236 |
0.685 |
|
| 1993 |
Migeon BR, McGinniss MJ, Antonarakis SE, Axelman J, Stasiowski BA, Youssoufian H, Kearns WG, Chung A, Pearson PL, Kazazian H, Muneer RS. Erratum: Severe hemophilia A in a female by cryptic translocation: Order and orientation of factor VIII within Xq28 (Genomics (1993) 16:1 (20-25)) Genomics. 16. DOI: 10.1006/Geno.1993.1273 |
0.564 |
|
| 1992 |
Economou EP, Kazazian HH, Antonarakis SE. Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP). Genomics. 13: 909-911. PMID 1639429 DOI: 10.1016/0888-7543(92)90189-Y |
0.66 |
|
| 1992 |
Cutting GR, Antonarakis SE. Prenatal diagnosis and carrier detection by DNA analysis. Pediatrics in Review. 13: 138-43. PMID 1626008 DOI: 10.1542/PIR.13-4-138 |
0.34 |
|
| 1992 |
Aly AM, Higuchi M, Kasper CK, Kazazian HH, Antonarakis SE, Hoyer LW. Hemophilia A due to mutations that create new N-glycosylation sites. Proceedings of the National Academy of Sciences of the United States of America. 89: 4933-4937. PMID 1594597 DOI: 10.1073/Pnas.89.11.4933 |
0.607 |
|
| 1992 |
Avramopoulos D, Cox T, Blaschak JE, Chakravarti A, Antonarakis SE. Linkage mapping of the AML1 gene on human chromosome 21 using a DNA polymorphism in the 3' untranslated region. Genomics. 14: 506-7. PMID 1427868 DOI: 10.1016/S0888-7543(05)80253-8 |
0.309 |
|
| 1991 |
Semenza GL, Nejfelt MK, Chi SM, Antonarakis SE. Hypoxia-inducible nuclear factors bind to an enhancer element located 3' to the human erythropoietin gene. Proceedings of the National Academy of Sciences of the United States of America. 88: 5680-4. PMID 2062846 DOI: 10.1073/Pnas.88.13.5680 |
0.588 |
|
| 1991 |
Cutting GR, McGinniss MJ, Kasch LM, Tsipouras P, Antonarakis SE. Physical mapping by PFGE localizes the COL3A1 and COL5A2 genes to a 35-kb region on human chromosome 2. Genomics. 8: 407-10. PMID 1979060 DOI: 10.1016/0888-7543(90)90302-B |
0.317 |
|
| 1991 |
Semenza GL, Koury ST, Nejfelt MK, Gearhart JD, Antonarakis SE. Cell-type-specific and hypoxia-inducible expression of the human erythropoietin gene in transgenic mice. Proceedings of the National Academy of Sciences of the United States of America. 88: 8725-9. PMID 1924331 DOI: 10.1073/Pnas.88.19.8725 |
0.571 |
|
| 1991 |
Higuchi M, Antonarakis SE, Kasch L, Oldenburg J, Economou-Petersen E, Olek K, Arai M, Inaba H, Kazazian HH. Molecular characterization of mild-to-moderate hemophilia A : detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis Proceedings of the National Academy of Sciences of the United States of America. 88: 8307-8311. PMID 1924291 DOI: 10.1073/Pnas.88.19.8307 |
0.672 |
|
| 1991 |
Higuchi M, Kazazian HH, Kasch L, Warren TC, McGinniss MJ, Phillips JA, Kasper C, Janco R, Antonarakis SE. Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene. Proceedings of the National Academy of Sciences of the United States of America. 88: 7405-7409. PMID 1908096 DOI: 10.1073/Pnas.88.16.7405 |
0.684 |
|
| 1991 |
Woods-Samuels P, Kazazian HH, Antonarakis SE. Nonhomologous recombination in the human genome: deletions in the human factor VIII gene. Genomics. 10: 94-101. PMID 1904396 DOI: 10.1016/0888-7543(91)90489-2 |
0.653 |
|
| 1991 |
Economou EP, Antonarakis SE, Dowling CC, Ibarra B, Mora Edl, Kazazian HH. Molecular heterogeneity of β-thalassemia in Mestizo Mexicans Genomics. 11: 474. PMID 1769663 DOI: 10.1016/0888-7543(91)90161-7 |
0.538 |
|
| 1991 |
Mcginniss MJ, Horisberger MA, Kazazian H, Antonarakis SE. An Mspl polymorphism at the MX1 locus in 21q22.3 Nucleic Acids Research. 19: 5451-5451. PMID 1717949 DOI: 10.1093/Nar/19.19.5451 |
0.601 |
|
| 1991 |
Kazazian HH, Dowling CE, Boehm CD, Warren TC, Economou EP, Katz J, Antonarakis SE. Gene defects in beta-thalassemia and their prenatal diagnosis. Annals of the New York Academy of Sciences. 612: 1-14. PMID 1705403 DOI: 10.1111/J.1749-6632.1990.Tb24285.X |
0.603 |
|
| 1991 |
Francomano CA, Cutting GR, McCormick MK, Chu ML, Timpl R, Hong HK, Antonarakis SE. The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q. Human Genetics. 87: 162-6. PMID 1676701 DOI: 10.1007/Bf00204174 |
0.319 |
|
| 1991 |
Economou EP, Antonarakis SE, Kazazian H, Serjeant GR, Dover GJ. Variation in hemoglobin F production among normal and sickle cell adults is not related to nucleotide substitutions in the gamma promoter regions. Blood. 77: 174-177. DOI: 10.1182/Blood.V77.1.174.Bloodjournal771174 |
0.626 |
|
| 1990 |
Semenza GL, Dureza RC, Traystman MD, Gearhart JD, Antonarakis SE. Human erythropoietin gene expression in transgenic mice: multiple transcription initiation sites and cis-acting regulatory elements. Molecular and Cellular Biology. 10: 930-8. PMID 2304468 DOI: 10.1128/mcb.10.3.930-938.1990 |
0.574 |
|
| 1990 |
Cutting GR, Kasch LM, Rosenstein BJ, Tsui LC, Kazazian HH, Antonarakis SE. Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease. The New England Journal of Medicine. 323: 1685-9. PMID 2233965 DOI: 10.1056/Nejm199012133232407 |
0.587 |
|
| 1990 |
Traytman MD, Higuchi M, Kasper CK, Antonarakis SE, Kazazian HH. Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene Genomics. 6: 293-301. PMID 2106480 DOI: 10.1016/0888-7543(90)90569-G |
0.662 |
|
| 1990 |
Higuchi M, Wong C, Kochhan L, Olek K, Aronis S, Kasper CK, Kazazian HH, Antonarakis SE. Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA. Genomics. 6: 65-71. PMID 2105906 DOI: 10.1016/0888-7543(90)90448-4 |
0.666 |
|
| 1990 |
Petersen MB, Economou EP, Slaugenhaupt SA, Chakravarti A, Antonarakis SE. Linkage analysis of the human HMG14 gene on chromosome 21 using a GT dinucleotide repeat as polymorphic marker. Genomics. 7: 136-8. PMID 1970797 DOI: 10.1016/0888-7543(90)90531-X |
0.334 |
|
| 1990 |
Long JC, Chakravarti A, Boehm CD, Antonarakis S, Kazazian HH. Phylogeny of human beta-globin haplotypes and its implications for recent human evolution. American Journal of Physical Anthropology. 81: 113-30. PMID 1967905 DOI: 10.1002/Ajpa.1330810112 |
0.62 |
|
| 1990 |
Cutting GR, Kasch LM, Rosenstein BJ, Zielenski J, Tsui LC, Antonarakis SE, Kazazian HH. A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature. 346: 366-9. PMID 1695717 DOI: 10.1038/346366A0 |
0.617 |
|
| 1990 |
Inaba H, Fujimaki M, Kazazian HH, Antonarakis SE. MspI polymorphic site in intron 22 of the factor VIII gene in the Japanese population. Human Genetics. 84: 214-215. PMID 1688823 DOI: 10.1007/Bf00208947 |
0.623 |
|
| 1989 |
Cutting GR, Kazazian HH, Antonarakis SE, Killen PD, Yamada Y, Francomano CA. Macrorestriction mapping of COL4A1 and COL4A2 collagen genes on human chromosome 13q34. Genomics. 3: 256-63. PMID 3224982 DOI: 10.1016/0888-7543(88)90086-9 |
0.654 |
|
| 1989 |
Semenza GL, Traystman MD, Gearhart JD, Antonarakis SE. Polycythemia in transgenic mice expressing the human erythropoietin gene. Proceedings of the National Academy of Sciences of the United States of America. 86: 2301-5. PMID 2928334 DOI: 10.1073/Pnas.86.7.2301 |
0.557 |
|
| 1989 |
Glaser T, Driscoll DJ, Antonarakis S, Valle D, Housman D. A highly polymorphic locus cloned from the breakpoint of a chromosome 11p13 deletion associated with the WAGR syndrome. Genomics. 5: 880-93. PMID 2574149 DOI: 10.1016/0888-7543(89)90130-4 |
0.331 |
|
| 1989 |
Arai M, Inaba H, Higuchi M, Antonarakis SE, Kazazian H, Fujimaki M, Hoyer LW. Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine). Proceedings of the National Academy of Sciences of the United States of America. 86: 4277-4281. PMID 2498882 DOI: 10.1073/Pnas.86.11.4277 |
0.613 |
|
| 1989 |
Woods-Samuels P, Wong C, Mathias SL, Scott AF, Kazazian HH, Antonarakis SE. Characterization of a nondeleterious L1 insertion in an intron of the human factor VIII gene and further evidence of open reading frames in functional L1 elements. Genomics. 4: 290-6. PMID 2497061 DOI: 10.1016/0888-7543(89)90332-7 |
0.593 |
|
| 1989 |
Inaba H, Fujimaki M, Kazazian HH, Antonarakis SE. Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene. Human Genetics. 81: 335-338. PMID 2495245 DOI: 10.1007/Bf00283686 |
0.674 |
|
| 1988 |
Huang S, Waber PG, Dowling CE, Wong C, Antonarakis SE, Cai RL, Wang MQ, Lo WHY, Kazazian H. Beta-thalassemia in China: a systematic molecular characterization of beta-thalassemia mutations. Hemoglobin. 12: 621-628. PMID 3209404 DOI: 10.3109/03630268808991653 |
0.649 |
|
| 1988 |
Youssoufian H, Kasper CK, Phillips DG, Kazazian HH, Antonarakis SE. Restriction endonuclease mapping of six novel deletions of the factor VIII gene in hemophilia A. Human Genetics. 80: 143-148. PMID 3139545 DOI: 10.1007/Bf00702857 |
0.672 |
|
| 1988 |
Antonarakis SE. Hemophilia A persistence and gene mutational vulnerability. Hospital Practice (Office Ed.). 22: 93-5, 99-102. PMID 3119643 DOI: 10.1080/21548331.1987.11703380 |
0.314 |
|
| 1988 |
Youssoufian H, Kazazian HH, Patel A, Aronis S, Tsiftis G, Hoyer LW, Antonarakis SE. Mild hemophilia A associated with a cryptic donor splice site mutation in intron 4 of the factor VIII gene. Genomics. 2: 32-36. PMID 2838411 DOI: 10.1016/0888-7543(88)90106-1 |
0.656 |
|
| 1988 |
Kazazian HH, Wong C, Youssoufian H, Scott AF, Phillips DG, Antonarakis SE. Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man. Nature. 332: 164-6. PMID 2831458 DOI: 10.1038/332164A0 |
0.595 |
|
| 1987 |
Youssoufian H, Antonarakis SE, Aronis S, Tsiftis G, Phillips DG, Kazazian HH. Characterization of five partial deletions of the factor VIII gene Proceedings of the National Academy of Sciences of the United States of America. 84: 3772-3776. PMID 3035554 DOI: 10.1073/Pnas.84.11.3772 |
0.691 |
|
| 1987 |
Semenza GL, Ladias JA, Antonarakis SE. An Xba I polymorphism 3' to the human erythropoietin (EPO) gene. Nucleic Acids Research. 15: 6768. PMID 2888094 DOI: 10.1093/Nar/15.16.6768 |
0.601 |
|
| 1987 |
Youssoufian H, Phillips DG, Kazazian HH, Antonarakis SE. Mspl polymorphism in the 3′ flanking region of the human factor VIII gene Nucleic Acids Research. 15: 6312-6312. PMID 2888084 DOI: 10.1093/Nar/15.15.6312 |
0.643 |
|
| 1987 |
Atweh GF, Wong C, Reed R, Antonarakis SE, Zhu D, Ghosh PK, Maniatis T, Forget BG, Kazazian HH. A new mutation in IVS-1 of the human beta globin gene causing beta thalassemia due to abnormal splicing. Blood. 70: 147-51. PMID 2439149 |
0.656 |
|
| 1987 |
Youssoufian H, Patel A, Phillips D, Kazazian HH, Antonarakis SE. Hemophilia A: Recurrent Mutations And An Unusual Deletion Pediatric Research. 21: 296-296. DOI: 10.1203/00006450-198704010-00771 |
0.668 |
|
| 1986 |
Wong C, Antonarakis SE, Goff SC, Orkin SH, Boehm CD, Kazazian HH. On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups. Proceedings of the National Academy of Sciences of the United States of America. 83: 6529-32. PMID 3462712 DOI: 10.1073/Pnas.83.17.6529 |
0.368 |
|
| 1986 |
Kazazian H, Antonarakis SE, Youssoufian H, Dowling CE, Phillips DG, Wong C, Boehm CD. Comparison of deficiency alleles of the beta-globin and factor VIII:C genes: new lessons from a giant gene. Cold Spring Harbor Symposia On Quantitative Biology. 51: 371-379. PMID 3107876 DOI: 10.1101/Sqb.1986.051.01.045 |
0.643 |
|
| 1986 |
Youssoufian H, Kazazian HH, Phillips DG, Aronis S, Tsiftis G, Brown VA, Antonarakis SE. Recurrent mutations in haemophilia a give evidence for CpG mutation hotspots Nature. 324: 380-382. PMID 3097553 DOI: 10.1038/324380A0 |
0.647 |
|
| 1986 |
Karathanasis SK, Oettgen P, Haddad IA, Antonarakis SE. Structure, evolution, and polymorphisms of the human apolipoprotein A4 gene (APOA4). Proceedings of the National Academy of Sciences of the United States of America. 83: 8457-61. PMID 3095836 DOI: 10.1073/PNAS.83.22.8457 |
0.313 |
|
| 1986 |
Huang S, Wong C, Antonarakis SE, Ro-lien T, Lo WHY, Kazazian HH. The same "TATA" box β-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation Human Genetics. 74: 162-164. PMID 3021607 DOI: 10.1007/Bf00282081 |
0.652 |
|
| 1986 |
Cohen T, Karathanasis SK, Kazazian H, Antonarakis SE. DNA polymorphic sites in the human ApoAI-CIII-AIV cluster: Taq I and Ava I. Nucleic Acids Research. 14: 1924-1924. PMID 3005989 DOI: 10.1093/Nar/14.4.1924 |
0.575 |
|
| 1985 |
Antonarakis SE, Kazazian HH, Orkin SH. DNA polymorphism and molecular pathology of the human globin gene clusters Human Genetics. 69: 1-14. PMID 3881334 DOI: 10.1007/Bf00295521 |
0.661 |
|
| 1985 |
Kazazian HH, Antonarakis SE, Wong C, Trusko SP, Stetten G, Oliver M, Potter MJ, Gusella JF, Watkins PC. Ring chromosome 21: characterization of DNA sequences at sites of breakage and reunion. Annals of the New York Academy of Sciences. 450: 33-42. PMID 3160292 DOI: 10.1111/J.1749-6632.1985.Tb21481.X |
0.641 |
|
| 1985 |
Antonarakis SE, Waber PG, Kittur SD, Patel AS, Kazazian H, Mellis MA, Counts RB, Stamatoyannopoulos G, Bowie EJ, Fass DN. Hemophilia A Detection of Molecular Defects and of Carriers by DNA Analysis The New England Journal of Medicine. 313: 842-848. PMID 2993888 DOI: 10.1056/Nejm198510033131402 |
0.63 |
|
| 1985 |
Kittur SD, Hoppener JW, Antonarakis SE, Daniels JD, Meyers DA, Maestri NE, Jansen M, Korneluk RG, Nelkin BD, Kazazian HH. Linkage map of the short arm of human chromosome 11: location of the genes for catalase, calcitonin, and insulin-like growth factor II. Proceedings of the National Academy of Sciences of the United States of America. 82: 5064-7. PMID 2991908 DOI: 10.1073/Pnas.82.15.5064 |
0.637 |
|
| 1985 |
ANTONARAKIS SE, KITTUR SD, METAXOTOU C, BARTSOCAS C, KITSIOU S, WATKINS PC, PATEL AS, WARREN AC, GUSELLA JF, GRONER Y, CHAKRAVARTI A, MEYERS DA, KAZAZIAN HH. Linkage Map on Chromosome 21q and the Association of a DNA Haplotype with a Propensity to Nondisjunction and Trisomy 21 Annals of the New York Academy of Sciences. 450: 95-107. PMID 2990311 DOI: 10.1111/J.1749-6632.1985.Tb21486.X |
0.608 |
|
| 1985 |
Antonarakis SE, Copeland KL, Carpenter RJ, Carta CA, Hoyer LW, Caskey CT, Toole JJ, Kazazian HH. Prenatal diagnosis of haemophilia A by factor VIII gene analysis. Lancet. 1: 1407-9. PMID 2861360 DOI: 10.1016/S0140-6736(85)91842-2 |
0.633 |
|
| 1985 |
Antonarakis SE, Kittur SD, Metaxotou C, Patel AS, Watkins PE, Kazazian HH. 800 Anaixsis Of Dna Haplotypes Suggests A Genetic Predisposition To Trisomy 21 Associated With Dna Sequences On Chromosome 21 Pediatric Research. 19: 244-244. DOI: 10.1203/00006450-198504000-00830 |
0.614 |
|
| 1984 |
Cheng TC, Orkin SH, Antonarakis SE, Potter MJ, Sexton JP, Markham AF, Giardina PJ, Li A, Kazazian HH. beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. Proceedings of the National Academy of Sciences of the United States of America. 81: 2821-5. PMID 6585831 DOI: 10.1073/Pnas.81.9.2821 |
0.665 |
|
| 1984 |
Antonarakis SE, Irkin SH, Cheng TC, Scott AF, Sexton JP, Trusko SP, Charache S, Kazazian HH. beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site. Proceedings of the National Academy of Sciences of the United States of America. 81: 1154-8. PMID 6583702 DOI: 10.1073/Pnas.81.4.1154 |
0.645 |
|
| 1984 |
Antonarakis SE, Boehm CD, Serjeant GR, Theisen CE, Dover GJ, Kazazian HH. Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both. Proceedings of the National Academy of Sciences of the United States of America. 81: 853-856. PMID 6583683 DOI: 10.1073/Pnas.81.3.853 |
0.644 |
|
| 1984 |
Hutz MH, Michelson AM, Antonarakis SE, Orkin SH, Kazazian H. Restriction site polymorphism in the phosphoglycerate kinase gene on the X chromosome Human Genetics. 66: 217-219. PMID 6325324 DOI: 10.1007/Bf00286604 |
0.625 |
|
| 1984 |
Antonarakis SE, Gusella JF, Stetten G, Potter MJ, Watkins PC, Kazazian HH. RING 21 CHROMOSOME: LOCALIZATION OF THE BREAKPOINTS WITHIN A 2 KB DNA FRAGMENT Pediatric Research. 18: 219A-219A. DOI: 10.1203/00006450-198404001-00755 |
0.594 |
|
| 1984 |
Kazazian HH, Orkin SH, Antonarakis SE, Sexton JP, Boehm CD, Goff SC, Waber PG. Molecular characterization of seven beta-thalassemia mutations in Asian Indians The Embo Journal. 3: 593-596. DOI: 10.1002/J.1460-2075.1984.Tb01853.X |
0.343 |
|
| 1983 |
Antonarakis SE, Phillips JA, Mallonee RL, Kazazian HH, Fearon ER, Waber PG, Kronenberg HM, Ullrich A, Meyers DA. Beta-globin locus is linked to the parathyroid hormone (PTH) locus and lies between the insulin and PTH loci in man. Proceedings of the National Academy of Sciences of the United States of America. 80: 6615-9. PMID 6314332 DOI: 10.1073/Pnas.80.21.6615 |
0.62 |
|
| 1983 |
Prochownik EV, Antonarakis S, Bauer KA, Rosenberg RD, Fearon ER, Orkin SH. Molecular heterogeneity of inherited antithrombin III deficiency. The New England Journal of Medicine. 308: 1549-52. PMID 6304514 DOI: 10.1056/Nejm198306303082601 |
0.304 |
|
| 1983 |
Boehm CD, Antonarakis SE, Phillips JA, Stetten G, Kazazian HH. Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia. The New England Journal of Medicine. 308: 1054-1058. PMID 6300677 DOI: 10.1056/Nejm198305053081803 |
0.614 |
|
| 1982 |
Orkin SH, Kazazian HH, Antonarakis SE, Ostrer H, Goff SC, Sexton JP. Abnormal RNA processing due to the exon mutation of beta E-globin gene. Nature. 300: 768-9. PMID 7177196 DOI: 10.1038/300768A0 |
0.628 |
|
| 1982 |
Antonarakis SE, Orkin SH, Kazazian HH, Goff SC, Boehm CD, Waber PG, Sexton JP, Ostrer H, Fairbanks VF, Chakravarti A. Evidence for multiple origins of the beta E-globin gene in Southeast Asia. Proceedings of the National Academy of Sciences of the United States of America. 79: 6608-11. PMID 6292908 DOI: 10.1073/Pnas.79.21.6608 |
0.643 |
|
| 1982 |
Antonarakis SE, Phillips JA, Kazazian HH. Genetic diseases: Diagnosis by restriction endonuclease analysis* The Journal of Pediatrics. 100: 845-856. PMID 6283049 DOI: 10.1016/S0022-3476(82)80500-3 |
0.66 |
|
| 1982 |
Orkin SH, Kazazian HH, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, Waber PG, Giardina PJ. Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature. 296: 627-31. PMID 6280057 DOI: 10.1038/296627A0 |
0.673 |
|
| 1982 |
Antonarakis SE, Boehm CD, Giardina PJV, Kazazian HH. Nonrandom association of polymorphic restriction sites in the β-globin gene cluster Proceedings of the National Academy of Sciences of the United States of America. 79: 137-141. PMID 6275383 DOI: 10.1073/Pnas.79.1.137 |
0.639 |
|
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