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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.
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.
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
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.
70 results