Nürnberg G - Search Results

1

Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3.

Kuhl A, Melberg A, Meinl E, Nürnberg G, Nürnberg P, Kehrer-Sawatzki H, Jenne DE. Kuhl A, et al. Among authors: nurnberg p, nurnberg g. Eur J Hum Genet. 2008 Mar;16(3):367-73. doi: 10.1038/sj.ejhg.5201980. Epub 2008 Jan 16. Eur J Hum Genet. 2008. PMID: 18197198

2

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.

3

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.

Li Y, Pohl E, Boulouiz R, Schraders M, Nürnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M, Veltman JA, Nürnberg P, Kubisch C, Barakat A, Kremer H, Wollnik B. Li Y, et al. Among authors: nurnberg p, nurnberg g. Am J Hum Genet. 2010 Mar 12;86(3):479-84. doi: 10.1016/j.ajhg.2010.02.003. Epub 2010 Feb 18. Am J Hum Genet. 2010. PMID: 20170898 Free PMC article.

4

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.

5

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.

Elsayed SM, Heller R, Thoenes M, Zaki MS, Swan D, Elsobky E, Zühlke C, Ebermann I, Nürnberg G, Nürnberg P, Bolz HJ. Elsayed SM, et al. Among authors: nurnberg p, nurnberg g. Eur J Hum Genet. 2014 Feb;22(2):286-8. doi: 10.1038/ejhg.2013.150. Epub 2013 Jul 10. Eur J Hum Genet. 2014. PMID: 23838597 Free PMC article.

6

The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.

Schreml J, Durmaz B, Cogulu O, Keupp K, Beleggia F, Pohl E, Milz E, Coker M, Ucar SK, Nürnberg G, Nürnberg P, Kuhn J, Ozkinay F. Schreml J, et al. Among authors: nurnberg p, nurnberg g. Hum Genet. 2014 Jan;133(1):29-39. doi: 10.1007/s00439-013-1351-y. Epub 2013 Aug 27. Hum Genet. 2014. PMID: 23982343

7

A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.

Mégarbané A, Slim R, Nürnberg G, Ebermann I, Nürnberg P, Bolz HJ. Mégarbané A, et al. Among authors: nurnberg p, nurnberg g. Eur J Hum Genet. 2009 Aug;17(8):1076-9. doi: 10.1038/ejhg.2008.273. Epub 2009 Feb 4. Eur J Hum Genet. 2009. PMID: 19190672 Free PMC article.

8

An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group.

Borck G, Kakar N, Hoch J, Friedrich K, Freudenberg J, Nürnberg G, Yilmaz R, Daud S, Baloch DM, Nürnberg P, Oldenburg J, Ahmad J, Kubisch C. Borck G, et al. Among authors: nurnberg p, nurnberg g. Hum Genet. 2012 Feb;131(2):209-16. doi: 10.1007/s00439-011-1062-1. Epub 2011 Jul 15. Hum Genet. 2012. PMID: 21761136

9

Homozygous truncating PTPRF mutation causes athelia.

Borck G, de Vries L, Wu HJ, Smirin-Yosef P, Nürnberg G, Lagovsky I, Ishida LH, Thierry P, Wieczorek D, Nürnberg P, Foley J, Kubisch C, Basel-Vanagaite L. Borck G, et al. Among authors: nurnberg p, nurnberg g. Hum Genet. 2014 Aug;133(8):1041-7. doi: 10.1007/s00439-014-1445-1. Epub 2014 Apr 30. Hum Genet. 2014. PMID: 24781087

10

A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.

Szczepanski S, Hussain MS, Sur I, Altmüller J, Thiele H, Abdullah U, Waseem SS, Moawia A, Nürnberg G, Noegel AA, Baig SM, Nürnberg P. Szczepanski S, et al. Among authors: nurnberg p, nurnberg g. Hum Genet. 2016 Feb;135(2):157-70. doi: 10.1007/s00439-015-1619-5. Epub 2015 Nov 30. Hum Genet. 2016. PMID: 26621532

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