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209 results

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Page 1
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Courdier C, Boudjarane J, Malan V, Muti C, Sperelakis-Beedham B, Odent S, Jaillard S, Quelin C, Le Caignec C, Patat O, Dubucs C, Julia S, Schluth-Bolard C, Goumy C, Redon S, Gaillard JB, Huynh MT, Dupont C, Tabet AC, Cogan G, Vialard F, Dard R, Jedraszak G, Jobic F, Lefebvre M, Quenum G, Inai S, Rama M, Sauvestre F, Coatleven F, Thomas J, Rooryck C. Courdier C, et al. Among authors: vialard f. Prenat Diagn. 2023 Jun;43(6):734-745. doi: 10.1002/pd.6340. Epub 2023 Mar 23. Prenat Diagn. 2023. PMID: 36914926 Free article.
[Monozygotic heterocaryotic twins: prenatal diagnosis and management].
Barré M, Le Caignec C, Rival JM, Le Vaillant C, Salomon LJ, Boscher C, Philippe HJ, Ville Y, Vialard F, Winer N. Barré M, et al. Among authors: vialard f. Presse Med. 2009 Jul-Aug;38(7-8):1170-3. doi: 10.1016/j.lpm.2008.12.032. Epub 2009 Apr 17. Presse Med. 2009. PMID: 19375887 French. No abstract available.
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: vialard f. Prenat Diagn. 2014 May;34(5):424-30. doi: 10.1002/pd.4321. Epub 2014 Feb 12. Prenat Diagn. 2014. PMID: 24395195
Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases.
Gruchy N, Vialard F, Blondeel E, Le Meur N, Joly-Hélas G, Chambon P, Till M, Herbaut-Graux M, Vigouroux-Castera A, Coussement A, Lespinasse J, Amblard F, Jimenez M, Lebel Roy Camille L, Carré-Pigeon F, Flori E, Mugneret F, Jaillard S, Yardin C, Harbuz R, Collonge Rame M, Vago P, Valduga M, Leporrier N. Gruchy N, et al. Among authors: vialard f. Prenat Diagn. 2014 Dec;34(12):1133-8. doi: 10.1002/pd.4439. Epub 2014 Jul 22. Prenat Diagn. 2014. PMID: 24961405
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: vialard f. Prenat Diagn. 2015 Jan;35(1):35-43. doi: 10.1002/pd.4478. Epub 2014 Sep 16. Prenat Diagn. 2015. PMID: 25118001
Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome.
Marcato L, Turolla L, Pompilii E, Dupont C, Gruchy N, De Toffol S, Bracalente G, Bacrot S, Troilo E, Tabet AC, Rossi S, Delezoïde AL, Baldo D, Leporrier N, Maggi F, Molin A, Pilu G, Simoni G, Vialard F, Grati FR. Marcato L, et al. Among authors: vialard f. Clin Case Rep. 2014 Apr;2(2):25-32. doi: 10.1002/ccr3.48. Epub 2014 Feb 6. Clin Case Rep. 2014. PMID: 25356238 Free PMC article.
Non-invasive prenatal testing for trisomy 21 based on analysis of cell-free fetal DNA circulating in the maternal plasma.
Alberti A, Salomon LJ, Le Lorc'h M, Couloux A, Bussières L, Goupil S, Malan V, Pelletier E, Hyon C, Vialard F, Rozenberg P, Bouhanna P, Oury JF, Schmitz T, Romana S, Weissenbach J, Vekemans M, Ville Y. Alberti A, et al. Among authors: vialard f. Prenat Diagn. 2015 May;35(5):471-6. doi: 10.1002/pd.4561. Prenat Diagn. 2015. PMID: 25643828
Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies.
Grati FR, Molina Gomes D, Ferreira JC, Dupont C, Alesi V, Gouas L, Horelli-Kuitunen N, Choy KW, García-Herrero S, de la Vega AG, Piotrowski K, Genesio R, Queipo G, Malvestiti B, Hervé B, Benzacken B, Novelli A, Vago P, Piippo K, Leung TY, Maggi F, Quibel T, Tabet AC, Simoni G, Vialard F. Grati FR, et al. Among authors: vialard f. Prenat Diagn. 2015 Aug;35(8):801-9. doi: 10.1002/pd.4613. Epub 2015 Jun 24. Prenat Diagn. 2015. PMID: 25962607
A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.
Poirsier C, Besseau-Ayasse J, Schluth-Bolard C, Toutain J, Missirian C, Le Caignec C, Bazin A, de Blois MC, Kuentz P, Catty M, Choiset A, Plessis G, Basinko A, Letard P, Flori E, Jimenez M, Valduga M, Landais E, Lallaoui H, Cartault F, Lespinasse J, Martin-Coignard D, Callier P, Pebrel-Richard C, Portnoi MF, Busa T, Receveur A, Amblard F, Yardin C, Harbuz R, Prieur F, Le Meur N, Pipiras E, Kleinfinger P, Vialard F, Doco-Fenzy M. Poirsier C, et al. Among authors: vialard f. Eur J Hum Genet. 2016 Jun;24(6):844-51. doi: 10.1038/ejhg.2015.219. Epub 2015 Oct 28. Eur J Hum Genet. 2016. PMID: 26508576 Free PMC article.
209 results