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Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene.
Sarkozy A, Windpassinger C, Hudson J, Dougan CF, Lecky B, Hilton-Jones D, Eagle M, Charlton R, Barresi R, Lochmüller H, Bushby K, Straub V. Sarkozy A, et al. Among authors: windpassinger c. Eur J Hum Genet. 2011 Oct;19(10):1038-44. doi: 10.1038/ejhg.2011.84. Epub 2011 Jun 1. Eur J Hum Genet. 2011. PMID: 21629301 Free PMC article.
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
Evgrafov OV, Mersiyanova I, Irobi J, Van Den Bosch L, Dierick I, Leung CL, Schagina O, Verpoorten N, Van Impe K, Fedotov V, Dadali E, Auer-Grumbach M, Windpassinger C, Wagner K, Mitrovic Z, Hilton-Jones D, Talbot K, Martin JJ, Vasserman N, Tverskaya S, Polyakov A, Liem RK, Gettemans J, Robberecht W, De Jonghe P, Timmerman V. Evgrafov OV, et al. Among authors: windpassinger c. Nat Genet. 2004 Jun;36(6):602-6. doi: 10.1038/ng1354. Epub 2004 May 2. Nat Genet. 2004. PMID: 15122254
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
Auer-Grumbach M, Schlotter-Weigel B, Lochmüller H, Strobl-Wildemann G, Auer-Grumbach P, Fischer R, Offenbacher H, Zwick EB, Robl T, Hartl G, Hartung HP, Wagner K, Windpassinger C; Austrian Peripheral Neuropathy Study Group. Auer-Grumbach M, et al. Among authors: windpassinger c. Ann Neurol. 2005 Mar;57(3):415-24. doi: 10.1002/ana.20410. Ann Neurol. 2005. PMID: 15732094
Consequences of mutations within the C terminus of the FHL1 gene.
Schoser B, Goebel HH, Janisch I, Quasthoff S, Rother J, Bergmann M, Müller-Felber W, Windpassinger C. Schoser B, et al. Among authors: windpassinger c. Neurology. 2009 Aug 18;73(7):543-51. doi: 10.1212/WNL.0b013e3181b2a4b3. Neurology. 2009. PMID: 19687455
Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene.
Binder JS, Weidemann F, Schoser B, Niemann M, Machann W, Beer M, Plank G, Schmidt A, Bisping E, Poparic I, Lafer I, Stojakovic T, Quasthoff S, Vincent JB, Rienmueller R, Speicher MR, Berghold A, Pieske B, Windpassinger C. Binder JS, et al. Among authors: windpassinger c. Circ Cardiovasc Genet. 2012 Oct 1;5(5):490-502. doi: 10.1161/CIRCGENETICS.111.962332. Epub 2012 Aug 25. Circ Cardiovasc Genet. 2012. PMID: 22923418
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Khan MA, Rupp VM, Orpinell M, Hussain MS, Altmüller J, Steinmetz MO, Enzinger C, Thiele H, Höhne W, Nürnberg G, Baig SM, Ansar M, Nürnberg P, Vincent JB, Speicher MR, Gönczy P, Windpassinger C. Khan MA, et al. Among authors: windpassinger c. Hum Mol Genet. 2014 Nov 15;23(22):5940-9. doi: 10.1093/hmg/ddu318. Epub 2014 Jun 20. Hum Mol Genet. 2014. PMID: 24951542
Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.
Xue Y, Schoser B, Rao AR, Quadrelli R, Vaglio A, Rupp V, Beichler C, Nelson SF, Schapacher-Tilp G, Windpassinger C, Wilcox WR. Xue Y, et al. Among authors: windpassinger c. Circ Cardiovasc Genet. 2016 Apr;9(2):130-5. doi: 10.1161/CIRCGENETICS.115.001193. Epub 2016 Mar 1. Circ Cardiovasc Genet. 2016. PMID: 26933038 Free PMC article.
86 results