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Finelli P, Pincelli AI, Russo S, Bonati MT, Recalcati MP, Masciadri M, Giardino D, Cavagnini F, Larizza L. Disruption of Friend of GATA 2 gene (FOG-2) by a de novo t(8;10) chromosomal translocation is associated with heart defects and gonadal dysgenesis.Clin Genet 2007: 71: 195–204. ©...
Uyguner O, Kayserili H, Li Y, Karaman B, Nürnberg G, Hennies HC, Becker C, Nürnberg P, Başaran S, Apak MY, Wollnik B. A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1–p13.3.Clin Genet 2007: 71: 212–219. © Blackwell Munksgaard, 2007Autosomal recessive...
Suphapeetiporn K, Tongkobpetch S, Mahayosnond A, Shotelersuk V. Expanding the phenotypic spectrum of Caffey disease.Clin Genet 2007: 71: 280–284. © Blackwell Munksgaard, 2007Infantile cortical hyperostosis (ICH) is an inherited disorder characterized by hyperirritability, acute inflammation of...
Valle L, Carbonell P, Fernandez V, Dotor AM, Sanz M, Benitez J, Urioste M. MLH1 germline epimutations in selected patients with early-onset non-polyposis colorectal cancer.Clin Genet 2007: 71: 232–237. © Blackwell Munksgaard, 2007Recently, the germline epigenetic inactivation of MLH1 has been...
Choquette AC, Bouchard L, Houde A, Bouchard C, Pérusse L, Vohl M-C. Associations between USF1 gene variants and cardiovascular risk factors in the Quebec Family Study.Clin Genet 2007: 71: 245–253. © Blackwell Munksgaard, 2007Cardiovascular (CVD) risk factors are under the influence of...
Charrow J, Dulisse B, Grabowski GA, Weinreb NJ. The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease.Clin Genet 2007: 71: 205–211. © Blackwell Munksgaard, 2007The effect of enzyme replacement therapy (ERT) on bone crisis and bone pain...
Newman WG, Hamilton S, Ayres J, Sanghera N, Smith A, Gaunt L, Davies LM, Clayton-Smith J. Array comparative genomic hybridization for diagnosis of developmental delay – an exploratory cost-consequences analysis.Clin Genet 2007: 71: 254–259. © Blackwell Munksgaard, 2007A major application of...
Cho H-J, Sung DH, Kim BJ, Ki C-S. Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2.Clin Genet 2007: 71: 267–272. © Blackwell Munksgaard, 2007Charcot-Marie-Tooth disease (CMT) is classified into two types, the demyelinating (CMT1) and...
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