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Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
Kerr B, Delrue MA, Sigaudy S, Perveen R, Marche M, Burgelin I, Stef M, Tang B, Eden OB, O'Sullivan J, De Sandre-Giovannoli A, Reardon W, Brewer C, Bennett C, Quarell O, M'Cann E, Donnai D, Stewart F, Hennekam R, Cavé H, Verloes A, Philip N, Lacombe D, Levy N, Arveiler B, Black G. Kerr B, et al. Among authors: levy n. J Med Genet. 2006 May;43(5):401-5. doi: 10.1136/jmg.2005.040352. Epub 2006 Jan 27. J Med Genet. 2006. PMID: 16443854 Free PMC article.
Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.
Soria-Valles C, Carrero D, Gabau E, Velasco G, Quesada V, Bárcena C, Moens M, Fieggen K, Möhrcken S, Owens M, Puente DA, Asensio Ó, Loeys B, Pérez A, Benoit V, Wuyts W, Lévy N, Hennekam RC, De Sandre-Giovannoli A, López-Otín C. Soria-Valles C, et al. Among authors: levy n. J Med Genet. 2016 Nov;53(11):776-785. doi: 10.1136/jmedgenet-2015-103695. Epub 2016 Jun 22. J Med Genet. 2016. PMID: 27334370
A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis.
Faguer S, De Sandre-Giovannoli A, Hemery M, Lévy N, Lamant L, Arveiler B, Rooryck C, Prouheze C, Vigouroux A, Chauveau D, Calvas P, Chassaing N. Faguer S, et al. Among authors: levy n. Eur J Med Genet. 2011 May-Jun;54(3):310-3. doi: 10.1016/j.ejmg.2011.01.005. Epub 2011 Jan 27. Eur J Med Genet. 2011. PMID: 21276880
An inherited LMNA gene mutation in atypical Progeria syndrome.
Doubaj Y, De Sandre-Giovannoli A, Vera EV, Navarro CL, Elalaoui SC, Tajir M, Lévy N, Sefiani A. Doubaj Y, et al. Among authors: levy n. Am J Med Genet A. 2012 Nov;158A(11):2881-7. doi: 10.1002/ajmg.a.35557. Epub 2012 Sep 18. Am J Med Genet A. 2012. PMID: 22991222
Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes.
Aubourg P, Krahn M, Bernard R, Nguyen K, Forzano O, Boccaccio I, Delague V, De Sandre-Giovannoli A, Pouget J, Depétris D, Mattei MG, Philip N, Lévy N. Aubourg P, et al. Among authors: levy n. J Med Genet. 2005 Mar;42(3):253-9. doi: 10.1136/jmg.2004.021899. J Med Genet. 2005. PMID: 15744040 Free PMC article. No abstract available.
1,141 results