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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Courraud J, Chater-Diehl E, Durand B, Vincent M, Del Mar Muniz Moreno M, Boujelbene I, Drouot N, Genschik L, Schaefer E, Nizon M, Gerard B, Abramowicz M, Cogné B, Bronicki L, Burglen L, Barth M, Charles P, Colin E, Coubes C, David A, Delobel B, Demurger F, Passemard S, Denommé AS, Faivre L, Feger C, Fradin M, Francannet C, Genevieve D, Goldenberg A, Guerrot AM, Isidor B, Johannesen KM, Keren B, Kibæk M, Kuentz P, Mathieu-Dramard M, Demeer B, Metreau J, Steensbjerre Møller R, Moutton S, Pasquier L, Pilekær Sørensen K, Perrin L, Renaud M, Saugier P, Rio M, Svane J, Thevenon J, Tran Mau Them F, Tronhjem CE, Vitobello A, Layet V, Auvin S, Khachnaoui K, Birling MC, Drunat S, Bayat A, Dubourg C, El Chehadeh S, Fagerberg C, Mignot C, Guipponi M, Bienvenu T, Herault Y, Thompson J, Willems M, Mandel JL, Weksberg R, Piton A. Courraud J, et al. Among authors: pasquier l. Genet Med. 2021 Nov;23(11):2150-2159. doi: 10.1038/s41436-021-01263-1. Epub 2021 Aug 3. Genet Med. 2021. PMID: 34345024 Free article.
Phenotypic and molecular variability of the holoprosencephalic spectrum.
Lazaro L, Dubourg C, Pasquier L, Le Duff F, Blayau M, Durou MR, de la Pintière AT, Aguilella C, David V, Odent S. Lazaro L, et al. Among authors: pasquier l. Am J Med Genet A. 2004 Aug 15;129A(1):21-4. doi: 10.1002/ajmg.a.30110. Am J Med Genet A. 2004. PMID: 15266610
Phenotypic variability of a 4q34-->qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother.
Bendavid C, Pasquier L, Watrin T, Morcel K, Lucas J, Gicquel I, Dubourg C, Henry C, David V, Odent S, Levêque J, Pellerin I, Guerrier D. Bendavid C, et al. Among authors: pasquier l. Eur J Med Genet. 2007 Jan-Feb;50(1):66-72. doi: 10.1016/j.ejmg.2006.09.003. Epub 2006 Oct 1. Eur J Med Genet. 2007. PMID: 17081814
Holoprosencephaly.
Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V. Dubourg C, et al. Among authors: pasquier l. Orphanet J Rare Dis. 2007 Feb 2;2:8. doi: 10.1186/1750-1172-2-8. Orphanet J Rare Dis. 2007. PMID: 17274816 Free PMC article. Review.
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).
Poirier K, Keays DA, Francis F, Saillour Y, Bahi N, Manouvrier S, Fallet-Bianco C, Pasquier L, Toutain A, Tuy FP, Bienvenu T, Joriot S, Odent S, Ville D, Desguerre I, Goldenberg A, Moutard ML, Fryns JP, van Esch H, Harvey RJ, Siebold C, Flint J, Beldjord C, Chelly J. Poirier K, et al. Among authors: pasquier l. Hum Mutat. 2007 Nov;28(11):1055-64. doi: 10.1002/humu.20572. Hum Mutat. 2007. PMID: 17584854
Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress.
Quélin C, Bendavid C, Dubourg C, de la Rochebrochard C, Lucas J, Henry C, Jaillard S, Loget P, Loeuillet L, Lacombe D, Rival JM, David V, Odent S, Pasquier L. Quélin C, et al. Among authors: pasquier l. Eur J Med Genet. 2009 Jan-Feb;52(1):41-6. doi: 10.1016/j.ejmg.2008.10.002. Epub 2008 Oct 31. Eur J Med Genet. 2009. PMID: 19022413
337 results