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An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.
Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Löscher WN, Wagner K, Lochmüller H, Vincent JB, Quasthoff S. Windpassinger C, et al. Among authors: schwarzbraun t. Am J Hum Genet. 2008 Jan;82(1):88-99. doi: 10.1016/j.ajhg.2007.09.004. Am J Hum Genet. 2008. PMID: 18179888 Free PMC article.
Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q.
Vincent JB, Noor A, Windpassinger C, Gianakopoulos PJ, Schwarzbraun T, Alfred SE, Stachowiak B, Scherer SW, Roberts W, Wagner K, Kroisel PM, Petek E. Vincent JB, et al. Among authors: schwarzbraun t. Am J Med Genet B Neuropsychiatr Genet. 2009 Sep 5;150B(6):817-26. doi: 10.1002/ajmg.b.30903. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 19086034
Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome.
Petek E, Schwarzbraun T, Noor A, Patel M, Nakabayashi K, Choufani S, Windpassinger C, Stamenkovic M, Robertson MM, Aschauer HN, Gurling HM, Kroisel PM, Wagner K, Scherer SW, Vincent JB. Petek E, et al. Among authors: schwarzbraun t. Mol Genet Genomics. 2007 Jan;277(1):71-81. doi: 10.1007/s00438-006-0173-1. Epub 2006 Oct 17. Mol Genet Genomics. 2007. PMID: 17043892 Clinical Trial.
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.
Miltenberger-Miltenyi G, Schwarzbraun T, Löscher WN, Wanschitz J, Windpassinger C, Duba HC, Seidl R, Albrecht G, Weirich-Schwaiger H, Zoller H, Utermann G, Auer-Grumbach M, Janecke AR. Miltenberger-Miltenyi G, et al. Among authors: schwarzbraun t. Eur J Hum Genet. 2009 Sep;17(9):1154-9. doi: 10.1038/ejhg.2009.29. Epub 2009 Mar 4. Eur J Hum Genet. 2009. PMID: 19259128 Free PMC article.
26 results