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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.
Dyssegmental dysplasia with glaucoma.
Maroteaux P, Manouvrier S, Bonaventure J, Le Merrer M. Maroteaux P, et al. Among authors: manouvrier s. Am J Med Genet. 1996 May 3;63(1):46-9. doi: 10.1002/(SICI)1096-8628(19960503)63:1<46::AID-AJMG10>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8723085
Prenatal diagnosis of thrombocytopenia-absent radius syndrome.
Boute O, Depret-Mosser S, Vinatier D, Manouvrier S, Martin de Lassale E, Farriaux JP, Monnier JC. Boute O, et al. Among authors: manouvrier s. Fetal Diagn Ther. 1996 May-Jun;11(3):224-30. doi: 10.1159/000264307. Fetal Diagn Ther. 1996. PMID: 8739592
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
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.
Saugier-Veber P, Martin C, Le Meur N, Lyonnet S, Munnich A, David A, Hénocq A, Héron D, Jonveaux P, Odent S, Manouvrier S, Moncla A, Morichon N, Philip N, Satge D, Tosi M, Frébourg T. Saugier-Veber P, et al. Among authors: manouvrier s. Hum Mutat. 1998;12(4):259-66. doi: 10.1002/(SICI)1098-1004(1998)12:4<259::AID-HUMU7>3.0.CO;2-A. Hum Mutat. 1998. PMID: 9744477
84 results