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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: lasseaux e. 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: lasseaux e. 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: lasseaux e. 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.
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.
Michaud V, Lasseaux E, Plaisant C, Verloes A, Perdomo-Trujillo Y, Hamel C, Elcioglu NH, Leroy B, Kaplan J, Jouk PS, Lacombe D, Fergelot P, Morice-Picard F, Arveiler B. Michaud V, et al. Among authors: lasseaux e. Pigment Cell Melanoma Res. 2017 Jan;30(6):563-570. doi: 10.1111/pcmr.12608. Epub 2017 Oct 20. Pigment Cell Melanoma Res. 2017. PMID: 28640947
[Clinical and genetic aspects of albinism].
Arveiler B, Lasseaux E, Morice-Picard F. Arveiler B, et al. Among authors: lasseaux e. Presse Med. 2017 Jul-Aug;46(7-8 Pt 1):648-654. doi: 10.1016/j.lpm.2017.05.020. Epub 2017 Jul 19. Presse Med. 2017. PMID: 28734636 French.
44 results