A Nivelon

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Laura Crisponi, Manila Deiana, Angela Loi et al. · Nature Genetics · 2001 · 974 citations

Transcriptional Regulation, Developmental Biology, Genetic Disorder +7

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene

C. Vincent, Vasiliki Kalatzis, Sylvie Compain et al. · Human Molecular Genetics · 1994 · 122 citations

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes

A. David, Pierre Bitoun, Didier Lacombe et al. · Journal of Medical Genetics · 1999 · 118 citations · Full text

Increased paternal age in CHARGE association

Anne-Lorraine Tellier, Stanislas Lyonnet, Valérie Cormier‐Daire et al. · Clinical Genetics · 1996 · 45 citations

New autosomal recessive chondrodysplasia???pseudohermaphrodism syndrome

A Nivelon, JL Nivelon, J-P. MABILLE et al. · Clinical Dysmorphology · 1992 · 17 citations

Developmental Anomaly, Infertility, Genetic Disorder +12