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Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
Seifert W, Holder-Espinasse M, Spranger S, Hoeltzenbein M, Rossier E, Dollfus H, Lacombe D, Verloes A, Chrzanowska KH, Maegawa GH, Chitayat D, Kotzot D, Huhle D, Meinecke P, Albrecht B, Mathijssen I, Leheup B, Raile K, Hennies HC, Horn D. Seifert W, et al. Among authors: hennies hc. J Med Genet. 2006 May;43(5):e22. doi: 10.1136/jmg.2005.039867. J Med Genet. 2006. PMID: 16648375 Free PMC article.
Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.
Hennies HC, Rauch A, Seifert W, Schumi C, Moser E, Al-Taji E, Tariverdian G, Chrzanowska KH, Krajewska-Walasek M, Rajab A, Giugliani R, Neumann TE, Eckl KM, Karbasiyan M, Reis A, Horn D. Hennies HC, et al. Am J Hum Genet. 2004 Jul;75(1):138-45. doi: 10.1086/422219. Epub 2004 May 20. Am J Hum Genet. 2004. PMID: 15154116 Free PMC article.
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.
zur Stadt U, Rohr J, Seifert W, Koch F, Grieve S, Pagel J, Strauss J, Kasper B, Nürnberg G, Becker C, Maul-Pavicic A, Beutel K, Janka G, Griffiths G, Ehl S, Hennies HC. zur Stadt U, et al. Among authors: hennies hc. Am J Hum Genet. 2009 Oct;85(4):482-92. doi: 10.1016/j.ajhg.2009.09.005. Am J Hum Genet. 2009. PMID: 19804848 Free PMC article.
Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36.
Thiele H, McCann C, van't Padje S, Schwabe GC, Hennies HC, Camera G, Opitz J, Laxova R, Mundlos S, Nürnberg P. Thiele H, et al. Among authors: hennies hc. J Med Genet. 2004 Mar;41(3):213-8. doi: 10.1136/jmg.2003.014894. J Med Genet. 2004. PMID: 14985386 Free PMC article. No abstract available.
140 results