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Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
Heidari A, Tongsook C, Najafipour R, Musante L, Vasli N, Garshasbi M, Hu H, Mittal K, McNaughton AJ, Sritharan K, Hudson M, Stehr H, Talebi S, Moradi M, Darvish H, Arshad Rafiq M, Mozhdehipanah H, Rashidinejad A, Samiei S, Ghadami M, Windpassinger C, Gillessen-Kaesbach G, Tzschach A, Ahmed I, Mikhailov A, Stavropoulos DJ, Carter MT, Keshavarz S, Ayub M, Najmabadi H, Liu X, Ropers HH, Macheroux P, Vincent JB. Heidari A, et al. Among authors: vincent jb. Hum Mol Genet. 2015 Oct 15;24(20):5697-710. doi: 10.1093/hmg/ddv286. Epub 2015 Jul 23. Hum Mol Genet. 2015. PMID: 26206890 Free PMC article.
Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue.
Schwarzbraun T, Vincent JB, Schumacher A, Geschwind DH, Oliveira J, Windpassinger C, Ofner L, Ledinegg MK, Kroisel PM, Wagner K, Petek E. Schwarzbraun T, et al. Among authors: vincent jb. Genomics. 2004 Sep;84(3):577-86. doi: 10.1016/j.ygeno.2004.04.013. Genomics. 2004. PMID: 15498464
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: vincent jb. 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.
Contribution of SHANK3 mutations to autism spectrum disorder.
Moessner R, Marshall CR, Sutcliffe JS, Skaug J, Pinto D, Vincent J, Zwaigenbaum L, Fernandez B, Roberts W, Szatmari P, Scherer SW. Moessner R, et al. Am J Hum Genet. 2007 Dec;81(6):1289-97. doi: 10.1086/522590. Epub 2007 Oct 16. Am J Hum Genet. 2007. PMID: 17999366 Free PMC article.
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: vincent jb. 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.
314 results