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Page 1
Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23.
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 EH. Stuhrmann M, et al. Among authors: nurnberg g. Clin Genet. 2008 Jun;73(6):566-72. doi: 10.1111/j.1399-0004.2008.01000.x. Epub 2008 May 6. Clin Genet. 2008. PMID: 18462451
Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene.
El-Harith el-HA, Roesl C, Ballmaier M, Germeshausen M, Frye-Boukhriss H, von Neuhoff N, Becker C, Nürnberg G, Nürnberg P, Ahmed MA, Hübener J, Schmidtke J, Welte K, Stuhrmann M. El-Harith el-HA, et al. Among authors: nurnberg p, nurnberg g. Br J Haematol. 2009 Jan;144(2):185-94. doi: 10.1111/j.1365-2141.2008.07430.x. Epub 2008 Nov 19. Br J Haematol. 2009. PMID: 19036112 Free article.
Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects.
Arélin M, Schulze B, Müller-Myhsok B, Horn D, Diers A, Uhlenberg B, Nürnberg P, Nürnberg G, Becker C, Mundlos S, Lindner TH, Sperling K, Hoffmann K. Arélin M, et al. Among authors: nurnberg p, nurnberg g. Eur J Hum Genet. 2013 Apr;21(4):367-72. doi: 10.1038/ejhg.2012.198. Epub 2012 Oct 3. Eur J Hum Genet. 2013. PMID: 23032112 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: nurnberg g. 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.
A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.
Hussain MS, Baig SM, Neumann S, Nürnberg G, Farooq M, Ahmad I, Alef T, Hennies HC, Technau M, Altmüller J, Frommolt P, Thiele H, Noegel AA, Nürnberg P. Hussain MS, et al. Among authors: nurnberg p, nurnberg g. Am J Hum Genet. 2012 May 4;90(5):871-8. doi: 10.1016/j.ajhg.2012.03.016. Epub 2012 Apr 19. Am J Hum Genet. 2012. PMID: 22521416 Free PMC article.
A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3.
Ruf RG, Berkman J, Wolf MT, Nurnberg P, Gattas M, Ruf EM, Hyland V, Kromberg J, Glass I, Macmillan J, Otto E, Nurnberg G, Lucke B, Hennies HC, Hildebrandt F. Ruf RG, et al. Among authors: nurnberg p, nurnberg g. J Med Genet. 2003 Jul;40(7):515-9. doi: 10.1136/jmg.40.7.515. J Med Genet. 2003. PMID: 12843324 Free PMC article. No abstract available.
227 results