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Page 1
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: portnoi 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. 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: portnoi mf. 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.
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: portnoi mf. Ann Genet. 2002 Apr-Jun;45(2):77-88. doi: 10.1016/s0003-3995(02)01118-8. Ann Genet. 2002. PMID: 12119216 Review.
Pierre Robin sequence and interstitial deletion 2q32.3-q33.2.
Houdayer C, Portnoï MF, Vialard F, Soupre V, Crumière C, Taillemite JL, Couderc R, Vazquez MP, Bahuau M. Houdayer C, et al. Among authors: portnoi mf. Am J Med Genet. 2001 Aug 15;102(3):219-26. doi: 10.1002/ajmg.1448. Am J Med Genet. 2001. PMID: 11484197
[A new case of ring chromosome 9].
Portnoi MF, van den Akker J, Le Porrier N, Joye N, Youssef S, Taillemite JL. Portnoi MF, et al. Ann Genet. 1982;25(3):164-7. Ann Genet. 1982. PMID: 6982668 French. No abstract available.
119 results