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Page 1
Prenatal diagnosis by FISH of a 22q11 deletion in two families.
Portnoï MF, Joyé N, Gonzales M, Demczuk S, Fermont L, Gaillard G, Bercau G, Morlier G, Taillemite JL. Portnoï MF, et al. Among authors: gonzales m. J Med Genet. 1998 Feb;35(2):165-8. doi: 10.1136/jmg.35.2.165. J Med Genet. 1998. PMID: 9507401 Free PMC article.
Usefulness of fluorescence in situ hybridization for the diagnosis of Turner mosaic fetuses with small ring X chromosomes.
Siffroi JP, Dupuy O, Joye N, Le Bourhis C, Benzacken B, Portnoi M, Berkane N, Franco JC, Studer C, Carbonne B, Gonzales M, Bucourt M, Uzan S, Uzan M, Milliez J, Wolf JP, Taillemite J, Dadoune JP. Siffroi JP, et al. Among authors: gonzales m. Fetal Diagn Ther. 2000 Jul-Aug;15(4):229-33. doi: 10.1159/000021012. Fetal Diagn Ther. 2000. PMID: 10867485
Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses.
Vialard F, Ottolenghi C, Gonzales M, Choiset A, Girard S, Siffroi JP, McElreavey K, Vibert-Guigue C, Sebaoun M, Joyé N, Portnoï MF, Jaubert F, Fellous M. Vialard F, et al. Among authors: gonzales m. J Med Genet. 2002 Jul;39(7):514-8. doi: 10.1136/jmg.39.7.514. J Med Genet. 2002. PMID: 12114486 Free PMC article. No abstract available.
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.
Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clément-Ziza M, Delezoide AL, Aubry MC, Pelet A, Chemouny S, Cruaud C, Audollent S, Esculpavit C, Goudefroye G, Ozilou C, Fredouille C, Joye N, Morichon-Delvallez N, Dumez Y, Weissenbach J, Munnich A, Amiel J, Encha-Razavi F, Lyonnet S, Vekemans M, Attié-Bitach T. Sanlaville D, et al. Among authors: gonzales m. J Med Genet. 2006 Mar;43(3):211-217. doi: 10.1136/jmg.2005.036160. Epub 2005 Sep 16. J Med Genet. 2006. PMID: 16169932 Free PMC article.
De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.
Laquerriere A, Gonzales M, Saillour Y, Cavallin M, Joyē N, Quēlin C, Bidat L, Dommergues M, Plessis G, Encha-Razavi F, Chelly J, Bahi-Buisson N, Poirier K. Laquerriere A, et al. Among authors: gonzales m. Eur J Med Genet. 2016 Apr;59(4):249-56. doi: 10.1016/j.ejmg.2015.12.007. Epub 2015 Dec 28. Eur J Med Genet. 2016. PMID: 26732629 Free article.
810 results