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Both rare and common genetic variants contribute to autism in the Faroe Islands.
Leblond CS, Cliquet F, Carton C, Huguet G, Mathieu A, Kergrohen T, Buratti J, Lemière N, Cuisset L, Bienvenu T, Boland A, Deleuze JF, Stora T, Biskupstoe R, Halling J, Andorsdóttir G, Billstedt E, Gillberg C, Bourgeron T. Leblond CS, et al. Among authors: bienvenu t. NPJ Genom Med. 2019 Jan 21;4:1. doi: 10.1038/s41525-018-0075-2. eCollection 2019. NPJ Genom Med. 2019. PMID: 30675382 Free PMC article.
Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.
Quilichini J, Perol S, Cuisset L, Grotto S, Fouveaut C, Barbot JC, Verebi C, Jordan P, Héron D, Molina-Gomes D, Pipiras E, Grynberg M, Catteau-Jonard S, Touraine P, Christin-Maître S, Plu-Bureau G, El Khattabi L, Bienvenu T. Quilichini J, et al. Among authors: bienvenu t. Am J Med Genet A. 2024 Apr;194(4):e63479. doi: 10.1002/ajmg.a.63479. Epub 2023 Nov 21. Am J Med Genet A. 2024. PMID: 37987117
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C. Mignot C, et al. Among authors: bienvenu t. Genet Med. 2019 Apr;21(4):837-849. doi: 10.1038/s41436-018-0268-1. Epub 2018 Sep 12. Genet Med. 2019. PMID: 30206421 Free PMC article.
Anorexia nervosa is associated with Neuronatin variants.
Lombardi L, Blanchet C, Poirier K, Lebrun N, Ramoz N, Rose Moro M, Gorwood P, Bienvenu T. Lombardi L, et al. Among authors: bienvenu t. Psychiatr Genet. 2019 Aug;29(4):103-110. doi: 10.1097/YPG.0000000000000224. Psychiatr Genet. 2019. PMID: 30933048
317 results