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An incidental finding of maternal multiple myeloma by non invasive prenatal testing.
Imbert-Bouteille M, Chiesa J, Gaillard JB, Dorvaux V, Altounian L, Gatinois V, Mousty E, Finge S, Bourquard P, Vermeesch JR, Legius E, Vandenberghe P. Imbert-Bouteille M, et al. Among authors: gatinois v. Prenat Diagn. 2017 Dec;37(12):1257-1260. doi: 10.1002/pd.5168. Epub 2017 Nov 28. Prenat Diagn. 2017. PMID: 29023902 Free PMC article.
Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.
Gatinois V, Bigi N, Mousty E, Chiesa J, Musizzano Y, Schneider A, Lefort G, Pinson L, Gaillard JB, Ragon C, Perez MJ, Tournaire M, Blanchet P, Corsini C, Haquet E, Callier P, Geneviève D, Pellestor F, Puechberty J. Gatinois V, et al. Mol Genet Genomic Med. 2019 Nov;7(11):e00895. doi: 10.1002/mgg3.895. Epub 2019 Sep 7. Mol Genet Genomic Med. 2019. PMID: 31493343 Free PMC article.
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.
Van Den Bogaert K, Lannoo L, Brison N, Gatinois V, Baetens M, Blaumeiser B, Boemer F, Bourlard L, Bours V, De Leener A, De Rademaeker M, Désir J, Dheedene A, Duquenne A, Fieremans N, Fieuw A, Gatot JS, Grisart B, Janssens K, Janssens S, Lederer D, Marichal A, Menten B, Meunier C, Palmeira L, Pichon B, Sammels E, Smits G, Sznajer Y, Vantroys E, Devriendt K, Vermeesch JR. Van Den Bogaert K, et al. Among authors: gatinois v. Genet Med. 2021 Jun;23(6):1137-1142. doi: 10.1038/s41436-021-01101-4. Epub 2021 Feb 9. Genet Med. 2021. PMID: 33564150 Free article.
Chromoanagenesis, the mechanisms of a genomic chaos.
Pellestor F, Gaillard JB, Schneider A, Puechberty J, Gatinois V. Pellestor F, et al. Among authors: gatinois v. Semin Cell Dev Biol. 2022 Mar;123:90-99. doi: 10.1016/j.semcdb.2021.01.004. Epub 2021 Feb 16. Semin Cell Dev Biol. 2022. PMID: 33608210 Review.
A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes.
Besseau-Ayasse J, Violle-Poirsier C, Bazin A, Gruchy N, Moncla A, Girard F, Till M, Mugneret F, Coussement A, Pelluard F, Jimenez M, Vago P, Portnoï MF, Dupont C, Beneteau C, Amblard F, Valduga M, Bresson JL, Carré-Pigeon F, Le Meur N, Tapia S, Yardin C, Receveur A, Lespinasse J, Pipiras E, Beaujard MP, Teboul P, Brisset S, Catty M, Nowak E, Douet Guilbert N, Lallaoui H, Bouquillon S, Gatinois V, Joly-Helas G, Prieur F, Cartault F, Martin D, Kleinfinger P, Molina Gomes D, Doco-Fenzy M, Vialard F. Besseau-Ayasse J, et al. Among authors: gatinois v. Prenat Diagn. 2014 May;34(5):424-30. doi: 10.1002/pd.4321. Epub 2014 Feb 12. Prenat Diagn. 2014. PMID: 24395195
LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.
Imbert-Bouteille M, Mau Them FT, Thevenon J, Guignard T, Gatinois V, Riviere JB, Boland A, Meyer V, Deleuze JF, Sanchez E, Apparailly F, Geneviève D, Willems M. Imbert-Bouteille M, et al. Among authors: gatinois v. Eur J Med Genet. 2019 Mar;62(3):161-166. doi: 10.1016/j.ejmg.2018.07.003. Epub 2018 Jul 10. Eur J Med Genet. 2019. PMID: 30006060
Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.
Lemattre C, Imbert-Bouteille M, Gatinois V, Benit P, Sanchez E, Guignard T, Tran Mau-Them F, Haquet E, Rivier F, Carme E, Roubertie A, Boland A, Lechner D, Meyer V, Thevenon J, Duffourd Y, Rivière JB, Deleuze JF, Wells C, Molinari F, Rustin P, Blanchet P, Geneviève D. Lemattre C, et al. Among authors: gatinois v. Eur J Hum Genet. 2019 Nov;27(11):1692-1700. doi: 10.1038/s41431-019-0433-2. Epub 2019 Jul 8. Eur J Hum Genet. 2019. PMID: 31285529 Free PMC article.
Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T. Tabet AC, et al. Among authors: gatinois v. NPJ Genom Med. 2019 Jul 1;4:16. doi: 10.1038/s41525-019-0090-y. eCollection 2019. NPJ Genom Med. 2019. PMID: 31285849 Free PMC article.
47 results