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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: plaisant c. 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.
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: plaisant c. 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: plaisant c. 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: plaisant c. 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
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: plaisant c. 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: plaisant c. 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
PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1.
Bonnemason-Carrere P, Morice-Picard F, Pennamen P, Arveiler B, Fergelot P, Goizet C, Hellegouarch M, Lacombe D, Plaisant C, Raclet V, Rooryck C, Lasseaux E, Trimouille A. Bonnemason-Carrere P, et al. Among authors: plaisant c. Am J Med Genet A. 2019 Jun;179(6):1030-1033. doi: 10.1002/ajmg.a.61127. Epub 2019 Mar 23. Am J Med Genet A. 2019. PMID: 30903679 Review.
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: plaisant c. 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.
58 results