Nürnberg G - Search Results

1

Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.

Haghighi A, Tiwari A, Piri N, Nürnberg G, Saleh-Gohari N, Haghighi A, Neidhardt J, Nürnberg P, Berger W. Haghighi A, et al. Among authors: nurnberg p, nurnberg g. PLoS One. 2014 Nov 13;9(11):e112747. doi: 10.1371/journal.pone.0112747. eCollection 2014. PLoS One. 2014. PMID: 25392994 Free PMC article.

2

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

3

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.

4

Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria.

Kloeckener-Gruissem B, Vandekerckhove K, Nürnberg G, Neidhardt J, Zeitz C, Nürnberg P, Schipper I, Berger W. Kloeckener-Gruissem B, et al. Among authors: nurnberg p, nurnberg g. Am J Hum Genet. 2008 Mar;82(3):772-9. doi: 10.1016/j.ajhg.2007.12.013. Epub 2008 Feb 14. Am J Hum Genet. 2008. PMID: 18304496 Free PMC article.

5

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.

Eisenberger T, Slim R, Mansour A, Nauck M, Nürnberg G, Nürnberg P, Decker C, Dafinger C, Ebermann I, Bergmann C, Bolz HJ. Eisenberger T, et al. Among authors: nurnberg p, nurnberg g. Orphanet J Rare Dis. 2012 Sep 2;7:59. doi: 10.1186/1750-1172-7-59. Orphanet J Rare Dis. 2012. PMID: 22938382 Free PMC article.

6

U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation.

Schmid F, Glaus E, Barthelmes D, Fliegauf M, Gaspar H, Nürnberg G, Nürnberg P, Omran H, Berger W, Neidhardt J. Schmid F, et al. Among authors: nurnberg p, nurnberg g. Hum Mutat. 2011 Jul;32(7):815-24. doi: 10.1002/humu.21509. Hum Mutat. 2011. PMID: 21520335

7

A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.

Hauke J, Schild A, Neugebauer A, Lappa A, Fricke J, Fauser S, Rösler S, Pannes A, Zarrinnam D, Altmüller J, Motameny S, Nürnberg G, Nürnberg P, Hahnen E, Beck BB. Hauke J, et al. Among authors: nurnberg p, nurnberg g. PLoS One. 2013 Oct 4;8(10):e76414. doi: 10.1371/journal.pone.0076414. eCollection 2013. PLoS One. 2013. PMID: 24124559 Free PMC article.

8

A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.

Eisenberger T, Di Donato N, Decker C, Delle Vedove A, Neuhaus C, Nürnberg G, Toliat M, Nürnberg P, Mürbe D, Bolz HJ. Eisenberger T, et al. Among authors: nurnberg p, nurnberg g. Genet Med. 2018 Jun;20(6):614-621. doi: 10.1038/gim.2017.155. Epub 2017 Oct 12. Genet Med. 2018. PMID: 29309402 Free PMC article.

9

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.

Ebermann I, Walger M, Scholl HP, Charbel Issa P, Lüke C, Nürnberg G, Lang-Roth R, Becker C, Nürnberg P, Bolz HJ. Ebermann I, et al. Among authors: nurnberg p, nurnberg g. Hum Mutat. 2007 Jun;28(6):571-7. doi: 10.1002/humu.20478. Hum Mutat. 2007. PMID: 17301963

10

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.

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