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MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.
Marsili L, van Lint FHM, Russo F, van Spaendonck-Zwarts KY, Ader F, Bichon ML, Faivre L, Houweling AC, Isidor B, Lekanne Deprez RH, Cox MGPJ, Wilde AAM, Mazel B, Mercier S, Dooijes D, Millat G, Nguyen K, Post JG, Richard P, van de Beek I, Vermeer AMC, Boven L, Jongbloed JDH, van Tintelen JP; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart. Marsili L, et al. Among authors: millat g. Neth Heart J. 2023 Aug;31(7-8):300-307. doi: 10.1007/s12471-023-01798-9. Epub 2023 Jul 24. Neth Heart J. 2023. PMID: 37488328 Free PMC article.
Structure and function of the NPC2 protein.
Vanier MT, Millat G. Vanier MT, et al. Among authors: millat g. Biochim Biophys Acta. 2004 Oct 11;1685(1-3):14-21. doi: 10.1016/j.bbalip.2004.08.007. Biochim Biophys Acta. 2004. PMID: 15465422 Review.
The adult form of Niemann-Pick disease type C.
Sévin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, Sedel F. Sévin M, et al. Among authors: millat g. Brain. 2007 Jan;130(Pt 1):120-33. doi: 10.1093/brain/awl260. Epub 2006 Sep 26. Brain. 2007. PMID: 17003072 Review.
Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts.
Yamamoto T, Ninomiya H, Matsumoto M, Ohta Y, Nanba E, Tsutsumi Y, Yamakawa K, Millat G, Vanier MT, Pentchev PG, Ohno K. Yamamoto T, et al. Among authors: millat g. J Med Genet. 2000 Sep;37(9):707-12. doi: 10.1136/jmg.37.9.707. J Med Genet. 2000. PMID: 11182931 Free PMC article. No abstract available.
Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy.
Marmontel O, Charrière S, Simonet T, Bonnet V, Dumont S, Mahl M, Jacobs C, Nony S, Chabane K, Bozon D, Janin A, Peretti N, Lachaux A, Bardel C, Millat G, Moulin P, Marçais C, Di Filippo M. Marmontel O, et al. Among authors: millat g. Clin Genet. 2018 Jul;94(1):132-140. doi: 10.1111/cge.13250. Epub 2018 Apr 25. Clin Genet. 2018. PMID: 29572815
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.
Yamamoto T, Nanba E, Ninomiya H, Higaki K, Taniguchi M, Zhang H, Akaboshi S, Watanabe Y, Takeshima T, Inui K, Okada S, Tanaka A, Sakuragawa N, Millat G, Vanier MT, Morris JA, Pentchev PG, Ohno K. Yamamoto T, et al. Among authors: millat g. Hum Genet. 1999 Jul-Aug;105(1-2):10-6. doi: 10.1007/s004399900059. Hum Genet. 1999. PMID: 10480349
[Cardiac sinus node dysfunction due to a new mutation of the SCN5A gene].
Selly JB, Boumahni B, Edmar A, Jamal Bey K, Randrianaivo H, Clerici G, Millat G, Caillet D. Selly JB, et al. Among authors: millat g. Arch Pediatr. 2012 Aug;19(8):837-41. doi: 10.1016/j.arcped.2012.04.017. Epub 2012 Jul 12. Arch Pediatr. 2012. PMID: 22795782 French.
88 results