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• W1900951102 abstract "Clinical GeneticsVolume 67, Issue 3 p. 270-272 COH1 analysis and linkage study in two Japanese families with Cohen syndrome I. Kondo, I. KondoSearch for more papers by this authorA. Shimizu, A. ShimizuSearch for more papers by this authorS. Asakawa, S. AsakawaSearch for more papers by this authorK. Miyamoto, K. MiyamotoSearch for more papers by this authorH. Yamagata, H. YamagataSearch for more papers by this authorY. Tabara, Y. TabaraSearch for more papers by this authorN. Shimizu, Corresponding Author N. Shimizu I. Kondo Department of Medical Genetics Ehime University School of Medicine Toon, Ehime 791-0295, Japan Tel.: +81 89 960 5277 Fax: +81 89 960 5279 e-mail: [email protected]Search for more papers by this author I. Kondo, I. KondoSearch for more papers by this authorA. Shimizu, A. ShimizuSearch for more papers by this authorS. Asakawa, S. AsakawaSearch for more papers by this authorK. Miyamoto, K. MiyamotoSearch for more papers by this authorH. Yamagata, H. YamagataSearch for more papers by this authorY. Tabara, Y. TabaraSearch for more papers by this authorN. Shimizu, Corresponding Author N. Shimizu I. Kondo Department of Medical Genetics Ehime University School of Medicine Toon, Ehime 791-0295, Japan Tel.: +81 89 960 5277 Fax: +81 89 960 5279 e-mail: [email protected]Search for more papers by this author First published: 17 January 2005 https://doi.org/10.1111/j.1399-0004.2005.00396.xCitations: 7Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL References 1 Cohen MM, Hall BD, Smith DW et al. A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular and limb anomalies. J Pediatr 1973: 83: 280– 284. 2 Kondo I, Nagataki S, Miyagi N. The Cohen syndrome: does mottled retina separate a Finnish and a Jewish type? Am J Med Genet 1990: 37: 109– 113. 3 Chandler KE, Kidd A, Al-Gazali L et al. Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. J Med Genet 2003: 40: 233– 241. 4 Kivitie-Kallio S, Norio R. Cohen syndrome: essential features, natural history, and heterogeneity. Am J Med Genet 2001: 102: 125– 135.DOI: 10.1002/1096-8628(20010801)102:2<125::AID-AJMG1439>3.0.CO;2-0 5 Tahvanainen E, Norio R, Karila E et al. Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. Nat Genet 1994: 7: 201– 204.DOI: 10.1038/ng0694-201 6 Kolehmainen J, Norio R, Kivitie-Kallio S et al. Refined mapping of the Cohen syndrome gene by linkage disequilibrium. Eur J Hum Genet 1997: 5: 206– 213. 7 Kolehmainen J, Black GCM, Saarinen A et al. Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Am J Hum Genet 2003: 72: 1359– 1369.DOI: 10.1086/375454 8 Hennies HC, Rauch A, Seifert W et al. Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. Am J Hum Genet 2004: 75: 138– 145.DOI: 10.1086/422219 9 Kolehmainen J, Wilkinson R, Lehesjoki A-E et al. Delineation of Cohen syndrome following a large-scale genotype–phenotype screen. Am J Hum Genet 2004: 75: 122– 127.DOI: 10.1086/422197 10 Falk MJ, Feiler HS, Neilson DE et al. Cohen syndrome in the Ohio Amish. Am J Med Genet 2004: 128A: 23– 28.DOI: 10.1002/ajmg.a.30033 Citing Literature Volume67, Issue3March 2005Pages 270-272 ReferencesRelatedInformation" @default.
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