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Fang J-S, Lee K-F, Huang C-T, Syu C-L, Yang K-J, Wang L-H, Liao D-L, Chen C-H. Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion.Clin Genet 2008: 73: 585–590. © Blackwell Munksgaard, 2008Terminal or interstitial deletion on the short...
Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardationNan et al. (2007)Proc Natl Acad Sci U S A 104: 2709–2714Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMTL (ADD) domain of the chromatin-associated...
Engenheiro E, Møller RS, Pinto M, Soares G, Nikanorova M, Carreira IM, Ullmann R, Tommerup N, Tümer Z. Mowat–Wilson syndrome: an underdiagnosed syndrome?Clin Genet 2008: 73: 579–584. © Blackwell Munksgaard, 2008Mowat–Wilson syndrome (MWS) is an autosomal dominant developmental disorder...
Andelfinger G. Genetic factors in congenital heart malformation.Clin Genet 2008: 73: 516–527. © Blackwell Munksgaard, 2008Congenital heart disease is the commonest malformation in humans and contributes greatly to the burden of disease in infancy. Increasingly, developmental origins are also...
Coman D, Irving M, Kannu P, Jaeken J, Savarirayan R. The skeletal manifestations of the congenital disorders of glycosylation.Clin Genet 2008: 73: 507–515. © Blackwell Munksgaard, 2008The congenital disorders of glycosylation (CDG) are a rapidly expanding disease group with protean...
Yanaru-Fujisawa R, Matsumoto T, Ushijima Y, Esaki M, Hirahashi M, Gushima M, Yao T, Nakabeppu Y, Iida M. Genomic and functional analyses of MUTYH in Japanese patients with adenomatous polyposis.Clin Genet 2008: 73: 545–553. © Blackwell Munksgaard, 2008The present study was undertaken to...
Miyoshi Y, Akagi M, Agarwal AK, Namba N, Kato-Nishimura K, Mohri I, Yamagata M, Nakajima S, Mushiake S, Shima M, Auchus RJ, Taniike M, Garg A, Ozono K. Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings.Clin Genet 2008: 73: 535–544....
Stuhrmann M, Hennies HC, Bukhari IA, Brakensiek K, Nürnberg G, Becker C, Huebener J, Miranda MC, Frye-Boukhriss H, Knothe S, Schmidtke J, El-Harith E-HA. Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome...
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