Azarnouche Ardalan

Intrachromosomal insertion mimicking a pericentric inversion: Molecular cytogenetic characterization of a three break rearrangement of chromosome 20

Azarnouche Ardalan, Marguerite Prieur, Agnès Choiset et al. · American Journal of Medical Genetics Part A · 2005 · 93 citations · Full text

Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens

Ana Grangeia, Florence Niel, Filipa Carvalho et al. · Human Reproduction · 2004 · 48 citations

Pure direct duplication (12)(q24.1 → q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies

Martine Doco‐Fenzy, Pierre Mauran, Jean Marie Lebrun et al. · American Journal of Medical Genetics Part A · 2006 · 38 citations

Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation

Marie‐France Portnoï, N. Bouayed Abdelmoula, Myriam Mirc et al. · Clinical Genetics · 2000 · 23 citations

Prenatal Detection by Real-Time Quantitative PCR and Characterization of a New CFTR Deletion, 3600+15kbdel5.3kb (or CFTRdele19)

Bruno Costes, Emmanuelle Girodon, Dominique Vidaud et al. · Clinical Chemistry · 2000 · 20 citations · Full text