Prenatal diagnosis by FISH of a 22q11 deletion in two families.

Por Portnoï, M F, Joyé, N, Gonzales, M, Demczuk, S, Fermont, L, Gaillard, G, Bercau, G, Morlier, G, Taillemite, J L
Publicado em 1998

Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses

Por Vialard, F, Ottolenghi, C, Gonzales, M, Choiset, A, Girard, S, Siffroi, J, McElreavey, K, Vibert-Guigue, C, Sebaoun, M, Joye, N, Portnoi, M, Jaubert, F, Fellous, M
Publicado em 2002

Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly.

Por Benzacken, B, Siffroi, J P, Le Bourhis, C, Krabchi, K, Joyé, N, Maschino, F, Viguié, F, Soulié, J, Gonzales, M, Migné, G, Bucourt, M, Encha-Razavi, F, Carbillon, L, Taillemite, J L
Publicado em 1997

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

Por Sanlaville, D, Etchevers, H C, Gonzales, M, Martinovic, J, Clément‐Ziza, M, Delezoide, A‐L, Aubry, M‐C, 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
Publicado em 2006