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Page 1
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.
Bonnet C, Andrieux J, Béri-Dexheimer M, Leheup B, Boute O, Manouvrier S, Delobel B, Copin H, Receveur A, Mathieu M, Thiriez G, Le Caignec C, David A, de Blois MC, Malan V, Philippe A, Cormier-Daire V, Colleaux L, Flori E, Dollfus H, Pelletier V, Thauvin-Robinet C, Masurel-Paulet A, Faivre L, Tardieu M, Bahi-Buisson N, Callier P, Mugneret F, Edery P, Jonveaux P, Sanlaville D. Bonnet C, et al. Among authors: manouvrier s. J Med Genet. 2010 Jun;47(6):377-84. doi: 10.1136/jmg.2009.071902. J Med Genet. 2010. PMID: 20522426
Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions.
Andrieux J, Villenet C, Quief S, Lignon S, Geffroy S, Roumier C, de Leersnyder H, de Blois MC, Manouvrier S, Delobel B, Benzacken B, Bitoun P, Attie-Bitach T, Thomas S, Lyonnet S, Vekemans M, Kerckaert JP. Andrieux J, et al. Among authors: manouvrier s. J Med Genet. 2007 Aug;44(8):537-40. doi: 10.1136/jmg.2006.048736. Epub 2007 Apr 27. J Med Genet. 2007. PMID: 17468296 Free PMC article.
New insights into genotype-phenotype correlation for GLI3 mutations.
Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quélin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbané A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue MA, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, André G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont ML, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet ML, Cormier-Daire V, Devisme L, Geneviève D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T. Démurger F, et al. Among authors: manouvrier s. Eur J Hum Genet. 2015 Jan;23(1):92-102. doi: 10.1038/ejhg.2014.62. Epub 2014 Apr 16. Eur J Hum Genet. 2015. PMID: 24736735 Free PMC article.
Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome.
Ghanim M, Rossignol S, Delobel B, Irving M, Miller O, Devisme L, Plennevaux JL, Lucidarme-Rossi S, Manouvrier S, Salah A, Chivu O, Netchine I, Vincent-Delorme C. Ghanim M, et al. Among authors: manouvrier s. Am J Med Genet A. 2013 Mar;161A(3):572-7. doi: 10.1002/ajmg.a.35691. Epub 2013 Feb 7. Am J Med Genet A. 2013. PMID: 23401077
Brachmann-de Lange syndrome: pre- and postnatal findings.
Manouvrier S, Espinasse M, Vaast P, Boute O, Farre I, Dupont F, Puech F, Gosselin B, Farriaux JP. Manouvrier S, et al. Am J Med Genet. 1996 Mar 29;62(3):268-73. doi: 10.1002/(SICI)1096-8628(19960329)62:3<268::AID-AJMG12>3.0.CO;2-I. Am J Med Genet. 1996. PMID: 8882785
[Trisomy 18: ultrasound aspects. Report of 40 cases].
Brun L, Dufour P, Savary JB, Valat AS, Boute O, Subtil D, Vaast P, Bourgeot P, Manouvrier S, de Martinville B, Puech F. Brun L, et al. Among authors: manouvrier s. Presse Med. 2000 Dec 9;29(38):2082-6. Presse Med. 2000. PMID: 11147045 French.
84 results