Nürnberg P - Search Results

1

A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family.

Asif M, Mocanu ID, Abdullah U, Höhne W, Altmüller J, Makhdoom EUH, Thiele H, Baig SM, Nürnberg P, Graul-Neumann L, Hussain MS. Asif M, et al. Among authors: nurnberg p. Am J Med Genet A. 2022 Apr;188(4):1251-1258. doi: 10.1002/ajmg.a.62610. Epub 2021 Dec 16. Am J Med Genet A. 2022. PMID: 34913263

2

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.

3

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

4

Genetic association studies of the chromosome 15 GABA-A receptor cluster in migraine with aura.

Netzer C, Freudenberg J, Toliat MR, Heinze A, Heinze-Kuhn K, Thiele H, Goebel I, Nürnberg P, Ptácek LJ, Göbel H, Todt U, Kubisch C. Netzer C, et al. Among authors: nurnberg p. Am J Med Genet B Neuropsychiatr Genet. 2008 Jan 5;147B(1):37-41. doi: 10.1002/ajmg.b.30560. Am J Med Genet B Neuropsychiatr Genet. 2008. PMID: 17680603

5

Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene.

Budde BS, Binner P, Waldmüller S, Höhne W, Blankenfeldt W, Hassfeld S, Brömsen J, Dermintzoglou A, Wieczorek M, May E, Kirst E, Selignow C, Rackebrandt K, Müller M, Goody RS, Vosberg HP, Nürnberg P, Scheffold T. Budde BS, et al. Among authors: nurnberg p. PLoS One. 2007 Dec 26;2(12):e1362. doi: 10.1371/journal.pone.0001362. PLoS One. 2007. PMID: 18159245 Free PMC article.

6

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F. Budde BS, et al. Among authors: nurnberg p, nurnberg g. Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204. Nat Genet. 2008. PMID: 18711368

7

Compound heterozygous ASPM mutations in Pakistani MCPH families.

Muhammad F, Mahmood Baig S, Hansen L, Sajid Hussain M, Anjum Inayat I, Aslam M, Anver Qureshi J, Toilat M, Kirst E, Wajid M, Nürnberg P, Eiberg H, Tommerup N, Kjaer KW. Muhammad F, et al. Among authors: nurnberg p. Am J Med Genet A. 2009 May;149A(5):926-30. doi: 10.1002/ajmg.a.32749. Am J Med Genet A. 2009. PMID: 19353628

8

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.

Iseri SU, Osborne RJ, Farrall M, Wyatt AW, Mirza G, Nürnberg G, Kluck C, Herbert H, Martin A, Hussain MS, Collin JR, Lathrop M, Nürnberg P, Ragoussis J, Ragge NK. Iseri SU, et al. Among authors: nurnberg p, nurnberg g. Hum Mutat. 2009 Oct;30(10):1378-86. doi: 10.1002/humu.21079. Hum Mutat. 2009. PMID: 19708017

9

Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.

Kornak U, Brancati F, Le Merrer M, Lichtenbelt K, Höhne W, Tinschert S, Garaci FG, Dallapiccola B, Nürnberg P. Kornak U, et al. Among authors: nurnberg p. Am J Med Genet A. 2010 Apr;152A(4):870-4. doi: 10.1002/ajmg.a.33301. Am J Med Genet A. 2010. PMID: 20358596

10

Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression.

Thiele H, du Moulin M, Barczyk K, George C, Schwindt W, Nürnberg G, Frosch M, Kurlemann G, Roth J, Nürnberg P, Rutsch F. Thiele H, et al. Among authors: nurnberg p, nurnberg g. Hum Mutat. 2010 Nov;31(11):E1836-50. doi: 10.1002/humu.21357. Hum Mutat. 2010. PMID: 20842748 Free PMC article.

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