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Page 1
Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.
Gruchy N, Blondeel E, Le Meur N, Joly-Hélas G, Chambon P, Till M, Herbaux M, Vigouroux-Castera A, Coussement A, Lespinasse J, Amblard F, Jimenez Pocquet M, Lebel-Roy C, Carré-Pigeon F, Flori E, Mugneret F, Jaillard S, Yardin C, Harbuz R, Collonge-Rame MA, Vago P, Valduga M, Leporrier N, Vialard F. Gruchy N, et al. Among authors: le meur n. Prenat Diagn. 2016 Jun;36(6):523-9. doi: 10.1002/pd.4817. Epub 2016 May 10. Prenat Diagn. 2016. PMID: 27018091
Pregnancy outcomes in 188 French cases of prenatally diagnosed Klinefelter syndrome.
Gruchy N, Vialard F, Decamp M, Choiset A, Rossi A, Le Meur N, Moirot H, Yardin C, Bonnet-Dupeyron MN, Lespinasse J, Herbaut-Graux M, Till M, Layet V, Leporrier N. Gruchy N, et al. Among authors: le meur n. Hum Reprod. 2011 Sep;26(9):2570-5. doi: 10.1093/humrep/der193. Epub 2011 Jul 5. Hum Reprod. 2011. PMID: 21733853
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: le meur n. 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: le meur n. Prenat Diagn. 2014 Dec;34(12):1133-8. doi: 10.1002/pd.4439. Epub 2014 Jul 22. Prenat Diagn. 2014. PMID: 24961405
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: le meur n, le caignec c. 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.
Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.
Marle N, Martinet D, Aboura A, Joly-Helas G, Andrieux J, Flori E, Puechberty J, Vialard F, Sanlaville D, Fert Ferrer S, Bourrouillou G, Tabet AC, Quilichini B, Simon-Bouy B, Bazin A, Becker M, Stora H, Amblard S, Doco-Fenzy M, Molina Gomes D, Girard-Lemaire F, Cordier MP, Satre V, Schneider A, Lemeur N, Chambon P, Jacquemont S, Fellmann F, Vigouroux-Castera A, Molignier R, Delaye A, Pipiras E, Liquier A, Rousseau T, Mosca AL, Kremer V, Payet M, Rangon C, Mugneret F, Aho S, Faivre L, Callier P. Marle N, et al. Clin Genet. 2014 Mar;85(3):233-44. doi: 10.1111/cge.12138. Epub 2013 Apr 5. Clin Genet. 2014. PMID: 23489061
[A, not so robertsonian, translocation!].
Amiot J, Layet V, Talbot A, Castelain M, Frebourg T, Chambon P, Le Meur N, Joly Helas G, Cassinari K. Amiot J, et al. Among authors: le meur n. Ann Biol Clin (Paris). 2021 Jun 1;79(3):261-264. doi: 10.1684/abc.2021.1646. Ann Biol Clin (Paris). 2021. PMID: 34159905 Free article. French. No abstract available.
A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations.
Cassinari K, Quenez O, Joly-Hélas G, Beaussire L, Le Meur N, Castelain M, Goldenberg A, Guerrot AM, Brehin AC, Deleuze JF, Boland A, Rovelet-Lecrux A, Campion D, Saugier-Veber P, Gruchy N, Frebourg T, Nicolas G, Sarafan-Vasseur N, Chambon P. Cassinari K, et al. Among authors: le meur n. Clin Chem. 2019 Sep;65(9):1153-1160. doi: 10.1373/clinchem.2019.304246. Epub 2019 Jul 10. Clin Chem. 2019. PMID: 31292136
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.
Blanluet M, Chantot-Bastaraud S, Chambon P, Cassinari K, Vera G, Goldenberg A, Keren B, Le Meur N, Hannequin D, Mace B, Siffroi JP, Frebourg T, Nicolas G, Joly-Helas G. Blanluet M, et al. Among authors: le meur n. Am J Med Genet A. 2021 Oct;185(10):3057-3061. doi: 10.1002/ajmg.a.62361. Epub 2021 May 27. Am J Med Genet A. 2021. PMID: 34043868
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