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Page 1
Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children).
Mathieu M, Piussan C, Thepot F, Gouget A, Lacombe D, Pedespan JM, Serville F, Fontan D, Ruffie M, Nivelon-Chevallier A, Amblard F, Chauveau P, Moirot H, Chabrolle JP, Croquette MF, Teyssier M, Plauchu H, Pelissier MC, Gilgenkrantz S, Turc-Carel C, Turleau C, Prieur M, Le Merrer M, Gonzales M, Journel H, et al. Mathieu M, et al. Among authors: amblard f. Ann Genet. 1997;40(1):45-54. Ann Genet. 1997. PMID: 9150850
French multi-centric study of 2000 amniotic fluid interphase FISH analyses from high-risk pregnancies and review of the literature.
Luquet I, Mugneret F, Athis PD, Nadal N, Favre B, Abel C, Chelloug N, Lespinasse J, Portnoi MF, Joyé N, Dupont JM, Lebbar A, Bresson JL, Fellmann F, Siffroi JP, Chantot-Bastaraud S, Chiesa J, Amblard F, Devillard F, Jeandidier E, Boceno M, Rival JM, Bellec V, Lallaoui H, Delobel B, Croquette MF, Benzacken B. Luquet I, et al. Among authors: amblard f. Ann Genet. 2002 Apr-Jun;45(2):77-88. doi: 10.1016/s0003-3995(02)01118-8. Ann Genet. 2002. PMID: 12119216 Review.
A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).
Lespinasse J, Testard H, Nugues F, Till M, Cordier MP, Althuser M, Amblard F, Fert-Ferrer S, Durand C, Dalmon F, Pourcel C, Jouk PS. Lespinasse J, et al. Among authors: amblard f. Ann Genet. 2004 Oct-Dec;47(4):405-17. doi: 10.1016/j.anngen.2004.07.005. Ann Genet. 2004. PMID: 15581840
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: amblard 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.
Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.
Bidart M, El Atifi M, Miladi S, Rendu J, Satre V, Ray PF, Bosson C, Devillard F, Lehalle D, Malan V, Amiel J, Mencarelli MA, Baldassarri M, Renieri A, Clayton-Smith J, Vieville G, Thevenon J, Amblard F, Berger F, Jouk PS, Coutton C. Bidart M, et al. Among authors: amblard f. Genet Med. 2017 Jun;19(6):701-710. doi: 10.1038/gim.2016.180. Epub 2016 Dec 1. Genet Med. 2017. PMID: 27906199 Free article.
159 results