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Page 1
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: beneteau c. Prenat Diagn. 2014 May;34(5):424-30. doi: 10.1002/pd.4321. Epub 2014 Feb 12. Prenat Diagn. 2014. PMID: 24395195
Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations.
Dupont C, Grati FR, Choy KW, Jaillard S, Toutain J, Maurin ML, Martínez-Conejero JA, Beneteau C, Coussement A, Molina-Gomes D, Horelli-Kuitunen N, Aboura A, Tabet AC, Besseau-Ayasse J, Bessieres-Grattagliano B, Simoni G, Ayala G, Benzacken B, Vialard F. Dupont C, et al. Among authors: beneteau c. Prenat Diagn. 2015 Jan;35(1):35-43. doi: 10.1002/pd.4478. Epub 2014 Sep 16. Prenat Diagn. 2015. PMID: 25118001
Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.
Duval H, Michel-Calemard L, Gonzales M, Loget P, Beneteau C, Buenerd A, Joubert M, Denis-Musquer M, Clemenson A, Chesnais AL, Blesson S, De Pinieux I, Delezoide AL, Bonyhay G, Bellanné-Chantelot C, Heidet L, Dupré F, Collardeau-Frachon S. Duval H, et al. Among authors: beneteau c. Prenat Diagn. 2016 Aug;36(8):744-51. doi: 10.1002/pd.4858. Epub 2016 Jul 6. Prenat Diagn. 2016. PMID: 27297286 Free article.
Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study.
Egloff M, Hervé B, Quibel T, Jaillard S, Le Bouar G, Uguen K, Saliou AH, Valduga M, Perdriolle E, Coutton C, Coston AL, Coussement A, Anselem O, Missirian C, Bretelle F, Prieur F, Fanget C, Muti C, Jacquemot MC, Beneteau C, Le Vaillant C, Vekemans M, Salomon LJ, Vialard F, Malan V. Egloff M, et al. Among authors: beneteau c. Ultrasound Obstet Gynecol. 2018 Dec;52(6):715-721. doi: 10.1002/uog.18928. Ultrasound Obstet Gynecol. 2018. PMID: 29027723 Free article.
Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.
Hureaux M, Guterman S, Hervé B, Till M, Jaillard S, Redon S, Valduga M, Coutton C, Missirian C, Prieur F, Simon-Bouy B, Beneteau C, Kuentz P, Rooryck C, Gruchy N, Marle N, Plutino M, Tosca L, Dupont C, Puechberty J, Schluth-Bolard C, Salomon L, Sanlaville D, Malan V, Vialard F. Hureaux M, et al. Among authors: beneteau c. Prenat Diagn. 2019 May;39(6):464-470. doi: 10.1002/pd.5449. Epub 2019 Apr 29. Prenat Diagn. 2019. PMID: 30896039
Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.
Guterman S, Beneteau C, Redon S, Dupont C, Missirian C, Jaeger P, Herve B, Jacquin C, Douet-Guilbert N, Till M, Tabet AC, Moradkhani K, Malan V, Doco-Fenzy M, Vialard F. Guterman S, et al. Among authors: beneteau c. Prenat Diagn. 2019 Sep;39(10):871-882. doi: 10.1002/pd.5498. Epub 2019 Jul 5. Prenat Diagn. 2019. PMID: 31172545 Review.
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
Lesieur-Sebellin M, Till M, Khau Van Kien P, Herve B, Bourgon N, Dupont C, Tabet AC, Barrois M, Coussement A, Loeuillet L, Mousty E, Ea V, El Assal A, Mary L, Jaillard S, Beneteau C, Le Vaillant C, Coutton C, Devillard F, Goumy C, Delabaere A, Redon S, Laurent Y, Lamouroux A, Massardier J, Turleau C, Sanlaville D, Cantagrel V, Sonigo P, Vialard F, Salomon LJ, Malan V. Lesieur-Sebellin M, et al. Among authors: beneteau c. Prenat Diagn. 2022 Jan;42(1):118-135. doi: 10.1002/pd.6074. Epub 2021 Dec 11. Prenat Diagn. 2022. PMID: 34894355
Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.
Favier M, Brischoux-Boucher E, Pyle LC, Mottet N, Auber-Lenoir M, Cattin J, Dahlen E, Cabrol C, Arbez-Gindre F, Attié-Bitach T, Boute O, Devisme L, Trost D, Boughalem A, Chitayat D, Prasov L, Chorin O, Rein-Rothschild A, Kassif E, Weissbach T, Hendon LG, Adam MP, Quelin C, Jaillard S, Mary L, Aukema SM, Heijligers M, de Die-Smulders C, Stegmann S, Badalato L, Ben-Yehuda A, Beneteau C, Forey PL, Kuentz P, Piard J. Favier M, et al. Among authors: beneteau c. Prenat Diagn. 2024 Dec;44(13):1647-1658. doi: 10.1002/pd.6700. Epub 2024 Nov 14. Prenat Diagn. 2024. PMID: 39542847 Free PMC article.
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: beneteau c. NPJ Genom Med. 2017 Oct 23;2:32. doi: 10.1038/s41525-017-0035-2. eCollection 2017. NPJ Genom Med. 2017. PMID: 29263841 Free PMC article.
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