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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
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.
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.
In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.
Alby C, Boutaud L, Bonnière M, Collardeau-Frachon S, Guibaud L, Lopez E, Bruel AL, Aral B, Sonigo P, Roth P, Vibert-Guigue C, Castaigne V, Carbonne B, Joyé N, Faivre L, Cordier MP, Bernabe Gelot A, Clementi M, Mammi I, Vekemans M, Razavi F, Gonzales M, Thauvin-Robinet C, Attié-Bitach T. Alby C, et al. Among authors: gonzales m. Birth Defects Res. 2018 Mar 1;110(4):382-389. doi: 10.1002/bdr2.1154. Epub 2017 Nov 28. Birth Defects Res. 2018. PMID: 29193896
803 results