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

Year Number of Results
1985 1
1986 3
1987 6
1988 6
1989 3
1990 1
1991 1
1992 3
1993 1
1994 4
1995 2
1998 4
1999 1
2000 4
2001 3
2002 5
2003 1
2004 2
2005 3
2006 7
2007 7
2008 6
2009 3
2010 7
2011 10
2012 8
2013 8
2014 9
2015 8
2016 9
2017 11
2018 10
2019 10
2020 13
2021 8
2022 7
2023 5
2024 8
2025 9

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189 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. Among authors: arveiler b. 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
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG. Kuht HJ, et al. Among authors: arveiler b. Ophthalmology. 2022 Jun;129(6):708-718. doi: 10.1016/j.ophtha.2022.02.010. Epub 2022 Feb 11. Ophthalmology. 2022. PMID: 35157951 Free PMC article.
Albinism: An Underdiagnosed Condition.
Arveiler B, Michaud V, Lasseaux E. Arveiler B, et al. 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.
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Nava C, Cogne B, Santini A, Leitão E, Lecoquierre F, Chen Y, Stenton SL, Besnard T, Heide S, Baer S, Jakhar A, Neuser S, Keren B, Faudet A, Forlani S, Faoucher M, Uguen K, Platzer K, Afenjar A, Alessandri JL, Andres S, Angelini C, Aral B, Arveiler B, Attie-Bitach T, Aubert Mucca M, Banneau G, Barakat TS, Barcia G, Baulac S, Beneteau C, Benkerdou F, Bernard V, Bézieau S, Bonneau D, Bonnet-Dupeyron MN, Boussion S, Boute O, Brischoux-Boucher E, Bryen SJ, Buratti J, Busa T, Caliebe A, Capri Y, Cassinari K, Caumes R, Cenni C, Chambon P, Charles P, Christodoulou J, Colson C, Conrad S, Cospain A, Coursimault J, Courtin T, Couse M, Coutton C, Creveaux I, D'Gama AM, Dauriat B, de Sainte Agathe JM, Del Gobbo G, Delahaye-Duriez A, Delanne J, Denommé-Pichon AS, Dieux-Coeslier A, Do Souto Ferreira L, Doco-Fenzy M, Drukewitz S, Duboc V, Dubourg C, Duffourd Y, Dyment D, El Chehadeh S, Elmaleh M, Faivre L, Fennelly S, Fischer H, Fradin M, Galludec Vaillant C, Ganne B, Ghoumid J, Goel H, Gokce-Samar Z, Goldenberg A, Gonfreville Robert R, Gorokhova S, Goujon L, Granier V, Gras M, Greally JM, Greiten B, Gueguen P, Guerrot AM, Guha S, Guimier A, Haack TB, Hadj Abdallah H, Halleb Y, Harbuz R, H… See abstract for full author list ➔ Nava C, et al. Among authors: arveiler b. Nat Genet. 2025 Jun;57(6):1374-1388. doi: 10.1038/s41588-025-02184-4. Epub 2025 May 16. Nat Genet. 2025. PMID: 40379786 Free PMC article.
ARF1-related disorder: phenotypic and molecular spectrum.
de Sainte Agathe JM, Pode-Shakked B, Naudion S, Michaud V, Arveiler B, Fergelot P, Delmas J, Keren B, Poirsier C, Alkuraya FS, Tabarki B, Bend E, Davis K, Bebin M, Thompson ML, Bryant EM, Wagner M, Hannibal I, Lenberg J, Krenn M, Wigby KM, Friedman JR, Iascone M, Cereda A, Miao T, LeGuern E, Argilli E, Sherr E, Caluseriu O, Tidwell T, Bayrak-Toydemir P, Hagedorn C, Brugger M, Vill K, Morneau-Jacob FD, Chung W, Weaver KN, Owens JW, Husami A, Chaudhari BP, Stone BS, Burns K, Li R, de Lange IM, Biehler M, Ginglinger E, Gérard B, Stottmann RW, Trimouille A. de Sainte Agathe JM, et al. Among authors: arveiler b. J Med Genet. 2023 Oct;60(10):999-1005. doi: 10.1136/jmg-2022-108803. Epub 2023 Apr 25. J Med Genet. 2023. PMID: 37185208 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: arveiler b. Pigment Cell Melanoma Res. 2024 Nov;37(6):752-761. doi: 10.1111/pcmr.13175. Epub 2024 May 9. Pigment Cell Melanoma Res. 2024. PMID: 38720644
Functional Characterization of Splice Variants in the Diagnosis of Albinism.
Diallo M, Courdier C, Mercier E, Sequeira A, Defay-Stinat A, Plaisant C, Mesdaghi S, Rigden D, Javerzat S, Lasseaux E, Bourgeade L, Audebert-Bellanger S, Dollfus H, Hadj-Rabia S, Morice-Picard F, Philibert M, Sidibé MK, Smirnov V, Sylla O, Michaud V, Arveiler B. Diallo M, et al. Among authors: arveiler b. Int J Mol Sci. 2024 Aug 8;25(16):8657. doi: 10.3390/ijms25168657. Int J Mol Sci. 2024. PMID: 39201349 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: arveiler b. Genes (Basel). 2022 Nov 23;13(12):2198. doi: 10.3390/genes13122198. Genes (Basel). 2022. PMID: 36553465 Free PMC article.
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
Cuinat S, Quélin C, Effray C, Dubourg C, Le Bouar G, Cabaret-Dufour AS, Loget P, Proisy M, Sauvestre F, Sarreau M, Martin-Berenguer S, Beneteau C, Naudion S, Michaud V, Arveiler B, Trimouille A, Macé P, Sigaudy S, Glazunova O, Torrents J, Raymond L, Saint-Frison MH, Attié-Bitach T, Lefebvre M, Capri Y, Bourgon N, Thauvin-Robinet C, Tran Mau-Them F, Bruel AL, Vitobello A, Denommé-Pichon AS, Faivre L, Brehin AC, Goldenberg A, Patrier-Sallebert S, Perani A, Dauriat B, Bourthoumieu S, Yardin C, Marquet V, Barnique M, Fiorenza-Gasq M, Marey I, Tournadre D, Doumit R, Nugues F, Barakat TS, Bustos F, Jaillard S, Launay E, Pasquier L, Odent S. Cuinat S, et al. Among authors: arveiler b. J Med Genet. 2024 Aug 29;61(9):824-832. doi: 10.1136/jmg-2024-109854. J Med Genet. 2024. PMID: 38849204 Free PMC article.
189 results