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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 7
2013 8
2014 8
2015 7
2016 9
2017 10
2018 9
2019 8
2020 13
2021 7
2022 7
2023 5
2024 1

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168 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
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.
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.
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.
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.
Increasing the complexity: new genes and new types of albinism.
Montoliu L, Grønskov K, Wei AH, Martínez-García M, Fernández A, Arveiler B, Morice-Picard F, Riazuddin S, Suzuki T, Ahmed ZM, Rosenberg T, Li W. Montoliu L, et al. Among authors: arveiler b. Pigment Cell Melanoma Res. 2014 Jan;27(1):11-8. doi: 10.1111/pcmr.12167. Epub 2013 Oct 17. Pigment Cell Melanoma Res. 2014. PMID: 24066960 Review.
Costello syndrome and neurological abnormalities.
Delrue MA, Chateil JF, Arveiler B, Lacombe D. Delrue MA, et al. Among authors: arveiler b. Am J Med Genet A. 2003 Dec 15;123A(3):301-5. doi: 10.1002/ajmg.a.20330. Am J Med Genet A. 2003. PMID: 14608654 Review.
[Clinical and genetic aspects of albinism].
Arveiler B, Lasseaux E, Morice-Picard F. Arveiler B, et al. 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.
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.
Angelini C, Durand CM, Fergelot P, Deforges J, Vital A, Menegon P, Sarrazin E, Bellance R, Mathis S, Gonzalez V, Renaud M, Frismand S, Schmitt E, Rouanet M, Burglen L, Chabrol B, Desnous B, Arveiler B, Stevanin G, Coupry I, Goizet C. Angelini C, et al. Among authors: arveiler b. Mov Disord. 2023 Nov;38(11):2103-2115. doi: 10.1002/mds.29576. Epub 2023 Aug 21. Mov Disord. 2023. PMID: 37605305
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: arveiler b. 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.
168 results