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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: arveiler b. 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.
SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.
Morice-Picard F, Lasseaux E, François S, Simon D, Rooryck C, Bieth E, Colin E, Bonneau D, Journel H, Walraedt S, Leroy BP, Meire F, Lacombe D, Arveiler B. Morice-Picard F, et al. Among authors: arveiler b. J Invest Dermatol. 2014 Feb;134(2):568-571. doi: 10.1038/jid.2013.360. Epub 2013 Aug 28. J Invest Dermatol. 2014. PMID: 23985994 Free article. No abstract available.
High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.
Morice-Picard F, Lasseaux E, Cailley D, Gros A, Toutain J, Plaisant C, Simon D, François S, Gilbert-Dussardier B, Kaplan J, Rooryck C, Lacombe D, Arveiler B. Morice-Picard F, et al. Among authors: arveiler b. Pigment Cell Melanoma Res. 2014 Jan;27(1):59-71. doi: 10.1111/pcmr.12173. Epub 2013 Oct 23. Pigment Cell Melanoma Res. 2014. PMID: 24118800 Clinical Trial.
Albinism in a patient with mutations at both the OA1 and OCA3 loci.
Morice-Picard F, Lasseaux E, Plaisant C, Cailley D, Bouron J, Rooryck C, Lacombe D, Pelletier V, Lipsker D, Perdomo-Trujillo Y, Dollfus H, Arveiler B. Morice-Picard F, et al. Among authors: arveiler b. Pigment Cell Melanoma Res. 2016 Jan;29(1):107-9. doi: 10.1111/pcmr.12408. Epub 2015 Oct 24. Pigment Cell Melanoma Res. 2016. PMID: 26247803 No abstract available.
Primary leptomeningeal melanocytic tumour with a plaque-like blue nevus in a patient with ocular albinism.
Goldman-Levy G, de la Fouchardiere A, Hamel CP, Lasseaux E, Yordanova Y, Guillot B, Bessis D, Pernet C, Frouin E, Boulle N, Haddad V, Pissaloux D, Costes V, Arveiler B, Rigau V. Goldman-Levy G, et al. Among authors: arveiler b. Eur J Dermatol. 2016 Oct 1;26(5):496-498. doi: 10.1684/ejd.2016.2828. Eur J Dermatol. 2016. PMID: 27344970 No abstract available.
176 results