Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome (2003)
DODE, C,
LEVILLIERS, J,
DUPONT, JM,
De Paepe, Anne,
LE DU, N,
SOUSSI-YANICOSTAS, N,
...
Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF) (1998)
Bernot, A,
Da Silva, C,
Petit, JL,
Cruaud, C,
Caloustian, C,
Castet, V,
...
Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1 (1997)
Abdelhak, S,
Kalatzis, V,
Heilig, R,
Compain, S,
Samson, D,
Vincent, C,
...
A 94 kb genomic sequence 3' to the murine Xist gene reveals an AT rich region containing a new testis specific gene Tsx (1996)
Simmler, MC,
Cunningham, DB,
Clerc, P,
Vermat, T,
Caudron, B,
Cruaud, C,
...
Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein.
Nissinen, M.,
Helbling-Leclerc, A.,
Zhang, X.,
Evangelista, T.,
Topaloglu, H.,
Cruaud, C.,
...
Congenital muscular dystrophies (CMDs) are autosomal recessive muscle disorders of early onset. Approximately half of CMD patients present laminin alpha2-chain (merosin) deficiency in muscle...
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.
Guicheney, P,
Vignier, N,
Zhang, X,
He, Y,
Cruaud, C,
Frey, V,
...
Classical congenital muscular dystrophy with merosin deficiency is caused by mutations in the laminin alpha2 chain gene (LAMA2). Extended sequencing of the introns flanking the 64 LAMA2 exons was...
Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome
Coupry, I,
Roudaut, C,
Stef, M,
Delrue, M,
Marche, M,
Burgelin, I,
...
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
Sanlaville, D,
Etchevers, H C,
Gonzales, M,
Martinovic, J,
Clément‐Ziza, M,
Delezoide, A‐L,
...