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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: philip 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.
Increased paternal age in CHARGE association.
Tellier AL, Lyonnet S, Cormier-Daire V, de Lonlay P, Abadie V, Baumann C, Bonneau D, Labrune P, Lacombe D, Le Merrer M, Nivelon A, Philip N, Briard ML, Munnich A. Tellier AL, et al. Among authors: philip n. Clin Genet. 1996 Dec;50(6):548-50. doi: 10.1111/j.1399-0004.1996.tb02736.x. Clin Genet. 1996. PMID: 9147897
Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain.
Chabrol B, Sigaudy S, Paquis V, Montfort MF, Giudicelli H, Pellissier JF, Millet V, Mancini J, Philip N. Chabrol B, et al. Among authors: philip n. Am J Med Genet. 1997 Oct 17;72(2):222-6. doi: 10.1002/(sici)1096-8628(19971017)72:2<222::aid-ajmg18>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9382147
Costello syndrome.
Philip N, Sigaudy S. Philip N, et al. J Med Genet. 1998 Mar;35(3):238-40. doi: 10.1136/jmg.35.3.238. J Med Genet. 1998. PMID: 9541110 Free PMC article. Review.
Neonatal death in Marshall-Smith syndrome.
Chatel C, Maazoul F, Sigaudy S, Fredouille C, Ayme S, Philip N. Chatel C, et al. Among authors: philip n. Genet Couns. 1998;9(1):15-8. Genet Couns. 1998. PMID: 9555581
CHARGE syndrome: report of 47 cases and review.
Tellier AL, Cormier-Daire V, Abadie V, Amiel J, Sigaudy S, Bonnet D, de Lonlay-Debeney P, Morrisseau-Durand MP, Hubert P, Michel JL, Jan D, Dollfus H, Baumann C, Labrune P, Lacombe D, Philip N, LeMerrer M, Briard ML, Munnich A, Lyonnet S. Tellier AL, et al. Among authors: philip n. Am J Med Genet. 1998 Apr 13;76(5):402-9. doi: 10.1002/(sici)1096-8628(19980413)76:5<402::aid-ajmg7>3.0.co;2-o. Am J Med Genet. 1998. PMID: 9556299 Review.
563 results