Nürnberg P - Search Results

1

Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.

Budde BS, Mizumoto S, Kogawa R, Becker C, Altmüller J, Thiele H, Rüschendorf F, Toliat MR, Kaleschke G, Hämmerle JM, Höhne W, Sugahara K, Nürnberg P, Kennerknecht I. Budde BS, et al. Among authors: nurnberg p. Hum Genet. 2015 Jul;134(7):691-704. doi: 10.1007/s00439-015-1549-2. Epub 2015 Apr 19. Hum Genet. 2015. PMID: 25893793 Clinical Trial.

2

Failure to replicate an allelic association between an exon 8 polymorphism of the human alpha(1A) calcium channel gene and common syndromes of idiopathic generalized epilepsy.

Sander T, Toliat MR, Heils A, Becker C, Nürnberg P. Sander T, et al. Among authors: nurnberg p. Epilepsy Res. 2002 Apr;49(2):173-7. doi: 10.1016/s0920-1211(02)00025-6. Epilepsy Res. 2002. PMID: 12049805

3

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.

Cryns K, Pfister M, Pennings RJ, Bom SJ, Flothmann K, Caethoven G, Kremer H, Schatteman I, Köln KA, Tóth T, Kupka S, Blin N, Nürnberg P, Thiele H, van de Heyning PH, Reardon W, Stephens D, Cremers CW, Smith RJ, Van Camp G. Cryns K, et al. Among authors: nurnberg p. Hum Genet. 2002 May;110(5):389-94. doi: 10.1007/s00439-002-0719-1. Epub 2002 Apr 9. Hum Genet. 2002. PMID: 12073007

4

A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10.

Pfister M, Tóth T, Thiele H, Haack B, Blin N, Zenner HP, Sziklai I, Nürnberg P, Kupka S. Pfister M, et al. Among authors: nurnberg p. Mol Med. 2002 Oct;8(10):607-11. Mol Med. 2002. PMID: 12477971 Free PMC article.

5

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

Rutsch F, Ruf N, Vaingankar S, Toliat MR, Suk A, Höhne W, Schauer G, Lehmann M, Roscioli T, Schnabel D, Epplen JT, Knisely A, Superti-Furga A, McGill J, Filippone M, Sinaiko AR, Vallance H, Hinrichs B, Smith W, Ferre M, Terkeltaub R, Nürnberg P. Rutsch F, et al. Among authors: nurnberg p. Nat Genet. 2003 Aug;34(4):379-81. doi: 10.1038/ng1221. Nat Genet. 2003. PMID: 12881724

6

Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement.

Thiele H, Sakano M, Kitagawa H, Sugahara K, Rajab A, Höhne W, Ritter H, Leschik G, Nürnberg P, Mundlos S. Thiele H, et al. Among authors: nurnberg p. Proc Natl Acad Sci U S A. 2004 Jul 6;101(27):10155-60. doi: 10.1073/pnas.0400334101. Epub 2004 Jun 23. Proc Natl Acad Sci U S A. 2004. PMID: 15215498 Free PMC article.

7

Genome-wide linkage analysis reveals evidence for four new susceptibility loci for familial euthyroid goiter.

Bayer Y, Neumann S, Meyer B, Rüschendorf F, Reske A, Brix T, Hegedüs L, Langer P, Nürnberg P, Paschke R. Bayer Y, et al. Among authors: nurnberg p. J Clin Endocrinol Metab. 2004 Aug;89(8):4044-52. doi: 10.1210/jc.2003-032096. J Clin Endocrinol Metab. 2004. PMID: 15292347

8

HaploPainter: a tool for drawing pedigrees with complex haplotypes.

Thiele H, Nürnberg P. Thiele H, et al. Among authors: nurnberg p. Bioinformatics. 2005 Apr 15;21(8):1730-2. doi: 10.1093/bioinformatics/bth488. Epub 2004 Sep 17. Bioinformatics. 2005. PMID: 15377505

9

Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families.

Altmüller J, Seidel C, Lee YA, Loesgen S, Bulle D, Friedrichs F, Jellouschek H, Kelber J, Keller A, Schuster A, Silbermann M, Wahlen W, Wolff P, Schlenvoigt G, Rüschendorf F, Nürnberg P, Wjst M. Altmüller J, et al. Among authors: nurnberg p. BMC Pulm Med. 2005 Jan 5;5:1. doi: 10.1186/1471-2466-5-1. BMC Pulm Med. 2005. PMID: 15634351 Free PMC article.

10

Genomewide linkage analysis identifies novel genetic Loci for lung function in mice.

Reinhard C, Meyer B, Fuchs H, Stoeger T, Eder G, Rüschendorf F, Heyder J, Nürnberg P, de Angelis MH, Schulz H. Reinhard C, et al. Among authors: nurnberg p. Am J Respir Crit Care Med. 2005 Apr 15;171(8):880-8. doi: 10.1164/rccm.200409-1204OC. Epub 2005 Jan 7. Am J Respir Crit Care Med. 2005. PMID: 15640362

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