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Mutations in NALP12 cause hereditary periodic fever syndromes.
Jéru I, Duquesnoy P, Fernandes-Alnemri T, Cochet E, Yu JW, Lackmy-Port-Lis M, Grimprel E, Landman-Parker J, Hentgen V, Marlin S, McElreavey K, Sarkisian T, Grateau G, Alnemri ES, Amselem S. Jéru I, et al. Among authors: marlin s. Proc Natl Acad Sci U S A. 2008 Feb 5;105(5):1614-9. doi: 10.1073/pnas.0708616105. Epub 2008 Jan 29. Proc Natl Acad Sci U S A. 2008. PMID: 18230725 Free PMC article.
Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder.
Jéru I, Marlin S, Le Borgne G, Cochet E, Normand S, Duquesnoy P, Dastot-Le Moal F, Cuisset L, Hentgen V, Fernandes Alnemri T, Lecron JC, Dhote R, Grateau G, Alnemri ES, Amselem S. Jéru I, et al. Among authors: marlin s. Arthritis Rheum. 2010 Apr;62(4):1176-85. doi: 10.1002/art.27326. Arthritis Rheum. 2010. PMID: 20131254 Free article.
The calcineurin inhibitor tacrolimus as a new therapy in severe cherubism.
Kadlub N, Vazquez MP, Galmiche L, L'Herminé AC, Dainese L, Ulinski T, Fauroux B, Pavlov I, Badoual C, Marlin S, Deckert M, Leboulanger N, Berdal A, Descroix V, Picard A, Coudert AE. Kadlub N, et al. Among authors: marlin s. J Bone Miner Res. 2015 May;30(5):878-85. doi: 10.1002/jbmr.2431. J Bone Miner Res. 2015. PMID: 25491283 Free article.
Review and update of mutations causing Waardenburg syndrome.
Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Pingault V, et al. Among authors: marlin s. Hum Mutat. 2010 Apr;31(4):391-406. doi: 10.1002/humu.21211. Hum Mutat. 2010. PMID: 20127975 Free article. Review.
EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.
Issa S, Bondurand N, Faubert E, Poisson S, Lecerf L, Nitschke P, Deggouj N, Loundon N, Jonard L, David A, Sznajer Y, Blanchet P, Marlin S, Pingault V. Issa S, et al. Among authors: marlin s. Hum Mutat. 2017 May;38(5):581-593. doi: 10.1002/humu.23206. Epub 2017 Mar 15. Hum Mutat. 2017. PMID: 28236341
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
Bondurand N, Dastot-Le Moal F, Stanchina L, Collot N, Baral V, Marlin S, Attie-Bitach T, Giurgea I, Skopinski L, Reardon W, Toutain A, Sarda P, Echaieb A, Lackmy-Port-Lis M, Touraine R, Amiel J, Goossens M, Pingault V. Bondurand N, et al. Among authors: marlin s. Am J Hum Genet. 2007 Dec;81(6):1169-85. doi: 10.1086/522090. Epub 2007 Oct 22. Am J Hum Genet. 2007. PMID: 17999358 Free PMC article.
205 results