First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations

Por Pasquier, L, Dubourg, C, Gonzales, M, Lazaro, L, David, V, Odent, S, Encha-Razavi, F
Publicado em 2005

A new lethal syndrome of exomphalos, short limbs, and macrogonadism

Por Faivre, L., Delezoide, A., Narcy, F., Razavi, F., Bouvier, R., Cormier-Daire, V., Briard, M., Lyonnet, S., Vekemans, M., Munnich, A., Le Merrer, M.
Publicado em 1999

Stability of the m.8993T→G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome

Por Steffann, J, Gigarel, N, Corcos, J, Bonnière, M, Encha‐Razavi, F, Sinico, M, Prevot, S, Dumez, Y, Yamgnane, A, Frydman, R, Munnich, A, Bonnefont, J P
Publicado em 2007

Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome

Por Pinson, L, Auge, J, Audollent, S, Mattei, G, Etchevers, H, Gigarel, N, Razavi, F, Lacombe, D, Odent, S, Le Merrer, M, Amiel, J, Munnich, A, Meroni, G, Lyonnet, S, Vekemans, M, Attie-Bitach, T
Publicado em 2004

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

Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.

Por Touraine, R L, Attié-Bitach, T, Manceau, E, Korsch, E, Sarda, P, Pingault, V, Encha-Razavi, F, Pelet, A, Augé, J, Nivelon-Chevallier, A, Holschneider, A M, Munnes, M, Doerfler, W, Goossens, M, Munnich, A, Vekemans, M, Lyonnet, S
Publicado em 2000

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