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BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
Pennamen P, Le L, Tingaud-Sequeira A, Fiore M, Bauters A, Van Duong Béatrice N, Coste V, Bordet JC, Plaisant C, Diallo M, Michaud V, Trimouille A, Lacombe D, Lasseaux E, Delevoye C, Picard FM, Delobel B, Marks MS, Arveiler B. Pennamen P, et al. Among authors: michaud v. Genet Med. 2020 Oct;22(10):1613-1622. doi: 10.1038/s41436-020-0867-5. Epub 2020 Jun 22. Genet Med. 2020. PMID: 32565547 Free PMC article.
Molecular characterization of a series of 990 index patients with albinism.
Lasseaux E, Plaisant C, Michaud V, Pennamen P, Trimouille A, Gaston L, Monfermé S, Lacombe D, Rooryck C, Morice-Picard F, Arveiler B. Lasseaux E, et al. Among authors: michaud v. Pigment Cell Melanoma Res. 2018 Jul;31(4):466-474. doi: 10.1111/pcmr.12688. Epub 2018 Feb 14. Pigment Cell Melanoma Res. 2018. PMID: 29345414
Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene.
Monfermé S, Lasseaux E, Duncombe-Poulet C, Hamel C, Defoort-Dhellemmes S, Drumare I, Zanlonghi X, Dollfus H, Perdomo Y, Bonneau D, Korobelnik JF, Plaisant C, Michaud V, Pennamen P, Rooryck-Thambo C, Morice-Picard F, Paya C, Arveiler B. Monfermé S, et al. Among authors: michaud v. Br J Ophthalmol. 2019 Sep;103(9):1239-1247. doi: 10.1136/bjophthalmol-2018-312729. Epub 2018 Nov 24. Br J Ophthalmol. 2019. PMID: 30472657
Clinical variability and probable founder effect in oculocutaneous albinism type 7.
Bataille P, Michaud V, Robert MP, Bekel L, Leclerc-Mercier S, Harroche A, Célérier C, Lasseaux E, Borgel D, Bremond-Gignac D, Bodemer C, Arveiler B, Hadj-Rabia S. Bataille P, et al. Among authors: michaud v. Clin Genet. 2020 Mar;97(3):527-528. doi: 10.1111/cge.13655. Epub 2019 Nov 6. Clin Genet. 2020. PMID: 31694064 No abstract available.
Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis.
Morice-Picard F, Michaud V, Lasseaux E, Rezvani HR, Plaisant C, Bessis D, Leauté-Labrèze C, Arveiler B, Taieb A, Trimouille A, Boralevi F. Morice-Picard F, et al. Among authors: michaud v. J Invest Dermatol. 2020 Jun;140(6):1289-1292.e2. doi: 10.1016/j.jid.2019.10.014. Epub 2019 Nov 29. J Invest Dermatol. 2020. PMID: 31790666 Free article. No abstract available.
Albinism: An Underdiagnosed Condition.
Arveiler B, Michaud V, Lasseaux E. Arveiler B, et al. Among authors: michaud v. J Invest Dermatol. 2020 Jul;140(7):1449-1451. doi: 10.1016/j.jid.2019.12.010. Epub 2019 Dec 26. J Invest Dermatol. 2020. PMID: 31883962 Free article. No abstract available.
165 results