Nurnberg P - Search Results

1

A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2.

Ruf RG, Wolf MT, Hennies HC, Lucke B, Zinn C, Varnholt V, Lichtenberger A, Pasch A, Imm A, Briese S, Lennert T, Fuchshuber A, Nurnberg P, Hildebrandt F. Ruf RG, et al. Among authors: nurnberg p. J Am Soc Nephrol. 2003 Jun;14(6):1519-22. doi: 10.1097/01.asn.0000066141.55735.8d. J Am Soc Nephrol. 2003. PMID: 12761252

2

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.

Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhäger R, Sudbrak R, Hennies HC, Nürnberg P, Hildebrandt F. Otto E, et al. Among authors: nurnberg p. Am J Hum Genet. 2002 Nov;71(5):1161-7. doi: 10.1086/344395. Epub 2002 Aug 29. Am J Hum Genet. 2002. PMID: 12205563 Free PMC article.

3

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

Otto EA, Tory K, Attanasio M, Zhou W, Chaki M, Paruchuri Y, Wise EL, Wolf MT, Utsch B, Becker C, Nürnberg G, Nürnberg P, Nayir A, Saunier S, Antignac C, Hildebrandt F. Otto EA, et al. Among authors: nurnberg p, nurnberg g. J Med Genet. 2009 Oct;46(10):663-70. doi: 10.1136/jmg.2009.066613. Epub 2009 Jun 8. J Med Genet. 2009. PMID: 19508969

4

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.

5

Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15.

Sasse-Klaassen S, Probst S, Gerull B, Oechslin E, Nürnberg P, Heuser A, Jenni R, Hennies HC, Thierfelder L. Sasse-Klaassen S, et al. Among authors: nurnberg p. Circulation. 2004 Jun 8;109(22):2720-3. doi: 10.1161/01.CIR.0000131865.21260.56. Epub 2004 Jun 1. Circulation. 2004. PMID: 15173023

6

Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36.

Schuermann MJ, Otto E, Becker A, Saar K, Rüschendorf F, Polak BC, Ala-Mello S, Hoefele J, Wiedensohler A, Haller M, Omran H, Nürnberg P, Hildebrandt F. Schuermann MJ, et al. Among authors: nurnberg p. Am J Hum Genet. 2002 May;70(5):1240-6. doi: 10.1086/340317. Epub 2002 Mar 27. Am J Hum Genet. 2002. PMID: 11920287 Free PMC article.

7

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.

Hasselbacher K, Wiggins RC, Matejas V, Hinkes BG, Mucha B, Hoskins BE, Ozaltin F, Nürnberg G, Becker C, Hangan D, Pohl M, Kuwertz-Bröking E, Griebel M, Schumacher V, Royer-Pokora B, Bakkaloglu A, Nürnberg P, Zenker M, Hildebrandt F. Hasselbacher K, et al. Among authors: nurnberg p, nurnberg g. Kidney Int. 2006 Sep;70(6):1008-12. doi: 10.1038/sj.ki.5001679. Epub 2006 Aug 16. Kidney Int. 2006. PMID: 16912710 Free article.

8

Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36.

Thiele H, McCann C, van't Padje S, Schwabe GC, Hennies HC, Camera G, Opitz J, Laxova R, Mundlos S, Nürnberg P. Thiele H, et al. Among authors: nurnberg p. J Med Genet. 2004 Mar;41(3):213-8. doi: 10.1136/jmg.2003.014894. J Med Genet. 2004. PMID: 14985386 Free PMC article. No abstract available.

9

Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates.

Eckl KM, Stevens HP, Lestringant GG, Westenberger-Treumann M, Traupe H, Hinz B, Frossard PM, Stadler R, Leigh IM, Nürnberg P, Reis A, Hennies HC. Eckl KM, et al. Among authors: nurnberg p. Hum Genet. 2003 Jan;112(1):50-6. doi: 10.1007/s00439-002-0838-8. Epub 2002 Oct 19. Hum Genet. 2003. PMID: 12483299

10

The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene.

Nürnberg P, Tinschert S, Mrug M, Hampe J, Müller CR, Fuhrmann E, Braun HS, Reis A. Nürnberg P, et al. Am J Hum Genet. 1997 Oct;61(4):918-23. doi: 10.1086/514880. Am J Hum Genet. 1997. PMID: 9382103 Free PMC article.

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