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105 results

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Page 1
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
Uhlenberg B, Schuelke M, Rüschendorf F, Ruf N, Kaindl AM, Henneke M, Thiele H, Stoltenburg-Didinger G, Aksu F, Topaloğlu H, Nürnberg P, Hübner C, Weschke B, Gärtner J. Uhlenberg B, et al. Among authors: ruschendorf f. Am J Hum Genet. 2004 Aug;75(2):251-60. doi: 10.1086/422763. Epub 2004 Jun 10. Am J Hum Genet. 2004. PMID: 15192806 Free PMC article.
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman BP; EuroEPINOMICS RES Consortium; Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H. Schubert J, et al. Among authors: ruschendorf f. Nat Genet. 2014 Dec;46(12):1327-32. doi: 10.1038/ng.3130. Epub 2014 Nov 2. Nat Genet. 2014. PMID: 25362483
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: ruschendorf f. 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.
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.
Garshasbi M, Motazacker MM, Kahrizi K, Behjati F, Abedini SS, Nieh SE, Firouzabadi SG, Becker C, Rüschendorf F, Nürnberg P, Tzschach A, Vazifehmand R, Erdogan F, Ullmann R, Lenzner S, Kuss AW, Ropers HH, Najmabadi H. Garshasbi M, et al. Among authors: ruschendorf f. Hum Genet. 2006 Feb;118(6):708-15. doi: 10.1007/s00439-005-0104-y. Epub 2005 Nov 26. Hum Genet. 2006. PMID: 16311745
RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.
Henneke M, Diekmann S, Ohlenbusch A, Kaiser J, Engelbrecht V, Kohlschütter A, Krätzner R, Madruga-Garrido M, Mayer M, Opitz L, Rodriguez D, Rüschendorf F, Schumacher J, Thiele H, Thoms S, Steinfeld R, Nürnberg P, Gärtner J. Henneke M, et al. Among authors: ruschendorf f. Nat Genet. 2009 Jul;41(7):773-5. doi: 10.1038/ng.398. Epub 2009 Jun 14. Nat Genet. 2009. PMID: 19525954
Missense mutations of ACTA1 cause dominant congenital myopathy with cores.
Kaindl AM, Rüschendorf F, Krause S, Goebel HH, Koehler K, Becker C, Pongratz D, Müller-Höcker J, Nürnberg P, Stoltenburg-Didinger G, Lochmüller H, Huebner A. Kaindl AM, et al. Among authors: ruschendorf f. J Med Genet. 2004 Nov;41(11):842-8. doi: 10.1136/jmg.2004.020271. J Med Genet. 2004. PMID: 15520409 Free PMC article. No abstract available.
105 results