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198 results

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Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
Teber OA, Gillessen-Kaesbach G, Fischer S, Böhringer S, Albrecht B, Albert A, Arslan-Kirchner M, Haan E, Hagedorn-Greiwe M, Hammans C, Henn W, Hinkel GK, König R, Kunstmann E, Kunze J, Neumann LM, Prott EC, Rauch A, Rott HD, Seidel H, Spranger S, Sprengel M, Zoll B, Lohmann DR, Wieczorek D. Teber OA, et al. Among authors: kunze j. Eur J Hum Genet. 2004 Nov;12(11):879-90. doi: 10.1038/sj.ejhg.5201260. Eur J Hum Genet. 2004. PMID: 15340364
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.
Türkmen S, Gillessen-Kaesbach G, Meinecke P, Albrecht B, Neumann LM, Hesse V, Palanduz S, Balg S, Majewski F, Fuchs S, Zschieschang P, Greiwe M, Mennicke K, Kreuz FR, Dehmel HJ, Rodeck B, Kunze J, Tinschert S, Mundlos S, Horn D. Türkmen S, et al. Among authors: kunze j. Eur J Hum Genet. 2003 Nov;11(11):858-65. doi: 10.1038/sj.ejhg.5201050. Eur J Hum Genet. 2003. PMID: 14571271
Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome.
Schiller S, Spranger S, Schechinger B, Fukami M, Merker S, Drop SL, Tröger J, Knoblauch H, Kunze J, Seidel J, Rappold GA. Schiller S, et al. Among authors: kunze j. Eur J Hum Genet. 2000 Jan;8(1):54-62. doi: 10.1038/sj.ejhg.5200402. Eur J Hum Genet. 2000. PMID: 10713888
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.
Kalff-Suske M, Wild A, Topp J, Wessling M, Jacobsen EM, Bornholdt D, Engel H, Heuer H, Aalfs CM, Ausems MG, Barone R, Herzog A, Heutink P, Homfray T, Gillessen-Kaesbach G, König R, Kunze J, Meinecke P, Müller D, Rizzo R, Strenge S, Superti-Furga A, Grzeschik KH. Kalff-Suske M, et al. Among authors: kunze j. Hum Mol Genet. 1999 Sep;8(9):1769-77. doi: 10.1093/hmg/8.9.1769. Hum Mol Genet. 1999. PMID: 10441342
198 results