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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 1
2011 1
2013 2
2014 2
2015 2
2016 4
2017 5
2018 5
2019 7
2020 13
2021 6
2022 6
2023 6
2024 1

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44 results

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Page 1
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. 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
Albinism: An Underdiagnosed Condition.
Arveiler B, Michaud V, Lasseaux E. Arveiler B, et al. Among authors: lasseaux e. 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.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
Schalk A, Cousin MA, Dsouza NR, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, Lasseaux E, Lacombe D, Angelini C, Michaud V, Van-Gils J, Spataro N, Ruiz A, Gabau E, Stolerman E, Washington C, Louie R, Lanpher BC, Kemppainen JL, Innes M, Kooy F, Meuwissen M, Goldenberg A, Lecoquierre F, Vera G, Diderich KEM, Sheidley B, El Achkar CM, Park M, Hamdan FF, Michaud JL, Lewis AJ, Zweier C, Reis A, Wagner M, Weigand H, Journel H, Keren B, Passemard S, Mignot C, van Gassen K, Brilstra EH, Itzikowitz G, O'Heir E, Allen J, Donald KA, Korf BR, Skelton T, Thompson M, Robin NH, Rudy NL, Dobyns WB, Foss K, Zarate YA, Bosanko KA, Alembik Y, Durand B, Tran Mau-Them F, Ranza E, Blanc X, Antonarakis SE, McWalter K, Torti E, Millan F, Dameron A, Tokita M, Zimmermann MT, Klee EW, Piton A, Gerard B. Schalk A, et al. Among authors: lasseaux e. J Med Genet. 2022 Oct;59(10):965-975. doi: 10.1136/jmedgenet-2021-107751. Epub 2021 Dec 15. J Med Genet. 2022. PMID: 34930816 Free PMC article.
Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.
Moreno-Artero E, Morice-Picard F, Lasseaux E, Robert MP, Coste V, Michaud V, Leclerc-Mercier S, Bremond-Gignac D, Arveiler B, Hadj-Rabia S. Moreno-Artero E, et al. Among authors: lasseaux e. Genes (Basel). 2022 Nov 23;13(12):2198. doi: 10.3390/genes13122198. Genes (Basel). 2022. PMID: 36553465 Free PMC article.
Genotypic spectrum of albinism in Mali.
Diallo M, Sylla O, Sidibé MK, Plaisant C, Mercier E, Sequeira A, Javerzat S, Hadid A, Lasseaux E, Michaud V, Arveiler B. Diallo M, et al. Among authors: lasseaux e. Pigment Cell Melanoma Res. 2024 May 9. doi: 10.1111/pcmr.13175. Online ahead of print. Pigment Cell Melanoma Res. 2024. PMID: 38720644
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.
Nabais Sá MJ, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, Piton A, Vincent-Delorme C, Zweier C, Reis A, Trollmann R, Ruiz A, Gabau E, Vetro A, Guerrini R, Bakhtiari S, Kruer MC, Amor DJ, Cooper MS, Bijlsma EK, Barakat TS, van Dooren MF, van Slegtenhorst M, Pfundt R, Gilissen C, Willemsen MA, de Vries BBA, de Brouwer APM, Koolen DA. Nabais Sá MJ, et al. Among authors: lasseaux e. Genet Med. 2020 Apr;22(4):797-802. doi: 10.1038/s41436-019-0703-y. Epub 2019 Nov 28. Genet Med. 2020. PMID: 31776469 Free article.
[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.
Foveal hypoplasia in parents of patients with albinism.
Lejoyeux R, Alonso AS, Lafolie J, Michaud V, Lasseaux E, Vasseur V, Derrien S, Robert MP, Le Mer Y, Tadayoni R, Arveiler B, Mauget-Faÿsse M. Lejoyeux R, et al. Among authors: lasseaux e. Ophthalmic Genet. 2022 Dec;43(6):817-823. doi: 10.1080/13816810.2022.2121841. Epub 2022 Sep 13. Ophthalmic Genet. 2022. PMID: 36098180
Dopachrome tautomerase variants in patients with oculocutaneous albinism.
Pennamen P, Tingaud-Sequeira A, Gazova I, Keighren M, McKie L, Marlin S, Gherbi Halem S, Kaplan J, Delevoye C, Lacombe D, Plaisant C, Michaud V, Lasseaux E, Javerzat S, Jackson I, Arveiler B. Pennamen P, et al. Among authors: lasseaux e. Genet Med. 2021 Mar;23(3):479-487. doi: 10.1038/s41436-020-00997-8. Epub 2020 Oct 26. Genet Med. 2021. PMID: 33100333 Free article.
44 results