Nürnberg P - Search Results

1

First HPSE2 missense mutation in urofacial syndrome.

Mahmood S, Beetz C, Tahir MM, Imran M, Mumtaz R, Bassmann I, Jahic A, Malik M, Nürnberg G, Hassan SA, Rana S, Nürnberg P, Hübner CA. Mahmood S, et al. Among authors: nurnberg p, nurnberg g. Clin Genet. 2012 Jan;81(1):88-92. doi: 10.1111/j.1399-0004.2011.01649.x. Epub 2011 Mar 10. Clin Genet. 2012. PMID: 21332471

2

A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3.

Uyguner O, Kayserili H, Li Y, Karaman B, Nürnberg G, Hennies H, Becker C, Nürnberg P, Başaran S, Apak MY, Wollnik B. Uyguner O, et al. Among authors: nurnberg p, nurnberg g. Clin Genet. 2007 Mar;71(3):212-9. doi: 10.1111/j.1399-0004.2007.00762.x. Clin Genet. 2007. PMID: 17309643

3

Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.

Bergmann C, Senderek J, Anhuf D, Thiel CT, Ekici AB, Poblete-Gutierrez P, van Steensel M, Seelow D, Nürnberg G, Schild HH, Nürnberg P, Reis A, Frank J, Zerres K. Bergmann C, et al. Among authors: nurnberg p, nurnberg g. Am J Hum Genet. 2006 Dec;79(6):1105-9. doi: 10.1086/509789. Epub 2006 Oct 17. Am J Hum Genet. 2006. PMID: 17186469 Free PMC article.

4

Genetic heterogeneity in Pakistani microcephaly families revisited.

Ahmad I, Baig SM, Abdulkareem AR, Hussain MS, Sur I, Toliat MR, Nürnberg G, Dalibor N, Moawia A, Waseem SS, Asif M, Nagra H, Sher M, Khan MMA, Hassan I, Rehman SU, Thiele H, Altmüller J, Noegel AA, Nürnberg P. Ahmad I, et al. Among authors: nurnberg p, nurnberg g. Clin Genet. 2017 Jul;92(1):62-68. doi: 10.1111/cge.12955. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 28004384

5

Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome.

Ebermann I, Elsayed SM, Abdel-Ghaffar TY, Nürnberg G, Nürnberg P, Elsobky E, Bolz HJ. Ebermann I, et al. Among authors: nurnberg p, nurnberg g. Neurology. 2008 Jun 10;70(24):2343-4. doi: 10.1212/01.wnl.0000314731.65875.5c. Neurology. 2008. PMID: 18541889 No abstract available.

6

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

7

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.

Janecke AR, Thompson DA, Utermann G, Becker C, Hübner CA, Schmid E, McHenry CL, Nair AR, Rüschendorf F, Heckenlively J, Wissinger B, Nürnberg P, Gal A. Janecke AR, et al. Among authors: nurnberg p. Nat Genet. 2004 Aug;36(8):850-4. doi: 10.1038/ng1394. Epub 2004 Jul 18. Nat Genet. 2004. PMID: 15258582

8

Genetic heterogeneity in Pakistani microcephaly families.

Sajid Hussain M, Marriam Bakhtiar S, Farooq M, Anjum I, Janzen E, Reza Toliat M, Eiberg H, Kjaer KW, Tommerup N, Noegel AA, Nürnberg P, Baig SM, Hansen L. Sajid Hussain M, et al. Among authors: nurnberg p. Clin Genet. 2013 May;83(5):446-51. doi: 10.1111/j.1399-0004.2012.01932.x. Epub 2012 Aug 7. Clin Genet. 2013. PMID: 22775483

9

A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies.

Pawlik B, Mir A, Iqbal H, Li Y, Nürnberg G, Becker C, Qamar R, Nürnberg P, Wollnik B. Pawlik B, et al. Among authors: nurnberg p, nurnberg g. Mol Syndromol. 2010 Feb;1(1):27-34. doi: 10.1159/000276763. Epub 2010 Jan 15. Mol Syndromol. 2010. PMID: 20648243 Free PMC article.

10

Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease.

Würde AE, Reunert J, Rust S, Hertzberg C, Haverkämper S, Nürnberg G, Nürnberg P, Lehle L, Rossi R, Marquardt T. Würde AE, et al. Among authors: nurnberg p, nurnberg g. Mol Genet Metab. 2012 Apr;105(4):634-41. doi: 10.1016/j.ymgme.2012.01.001. Epub 2012 Jan 9. Mol Genet Metab. 2012. PMID: 22304930

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