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847 results

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Page 1
Isochromosome Xq in Klinefelter syndrome: report of 7 new cases.
Arps S, Koske-Westphal T, Meinecke P, Meschede D, Nieschlag E, Harprecht W, Steuber E, Back E, Wolff G, Kerber S, Held KR. Arps S, et al. Among authors: wolff g. Am J Med Genet. 1996 Sep 6;64(4):580-2. doi: 10.1002/(SICI)1096-8628(19960906)64:4<580::AID-AJMG10>3.0.CO;2-D. Am J Med Genet. 1996. PMID: 8870925
CNGA3 mutations in hereditary cone photoreceptor disorders.
Wissinger B, Gamer D, Jägle H, Giorda R, Marx T, Mayer S, Tippmann S, Broghammer M, Jurklies B, Rosenberg T, Jacobson SG, Sener EC, Tatlipinar S, Hoyng CB, Castellan C, Bitoun P, Andreasson S, Rudolph G, Kellner U, Lorenz B, Wolff G, Verellen-Dumoulin C, Schwartz M, Cremers FP, Apfelstedt-Sylla E, Zrenner E, Salati R, Sharpe LT, Kohl S. Wissinger B, et al. Among authors: wolff g. Am J Hum Genet. 2001 Oct;69(4):722-37. doi: 10.1086/323613. Epub 2001 Aug 30. Am J Hum Genet. 2001. PMID: 11536077 Free PMC article.
Location and type of mutation in the LIS1 gene do not predict phenotypic severity.
Uyanik G, Morris-Rosendahl DJ, Stiegler J, Klapecki J, Gross C, Berman Y, Martin P, Dey L, Spranger S, Korenke GC, Schreyer I, Hertzberg C, Neumann TE, Burkart P, Spaich C, Meng M, Holthausen H, Adès L, Seidel J, Mangold E, Buyse G, Meinecke P, Schara U, Zeschnigk C, Muller D, Helland G, Schulze B, Wright ML, Kortge-Jung S, Hehr A, Bogdahn U, Schuierer G, Kohlhase J, Aigner L, Wolff G, Hehr U, Winkler J. Uyanik G, et al. Among authors: wolff g. Neurology. 2007 Jul 31;69(5):442-7. doi: 10.1212/01.wnl.0000266629.98503.d0. Neurology. 2007. PMID: 17664403
A BrdU-requiring fragile site on chromosome 12.
Voiculescu I, Hausmann C, Wolff G, Back E. Voiculescu I, et al. Among authors: wolff g. Hum Genet. 1988 Feb;78(2):183-5. doi: 10.1007/BF00278193. Hum Genet. 1988. PMID: 3338802
Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia.
Brakensiek K, Frye-Boukhriss H, Mälzer M, Abramowicz M, Bahr MJ, von Beckerath N, Bergmann C, Caselitz M, Holinski-Feder E, Muschke P, Oexle K, Strobl-Wildemann G, Wolff G, El-Harith EA, Stuhrmann M. Brakensiek K, et al. Among authors: wolff g. Clin Genet. 2008 Aug;74(2):171-7. doi: 10.1111/j.1399-0004.2008.01029.x. Epub 2008 May 21. Clin Genet. 2008. PMID: 18498373
847 results