M. Doco‐Fenzy

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

Bert Callewaert, Andy Willaert, Wilhelmina S. Kerstjens‐Frederikse et al. · Human Mutation · 2007 · 209 citations

Slc2a10 Mutations, Genetics, Vascular Malformation +19

Microdeletions including <i>YWHAE</i> in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

Sandesh C. Sreenath Nagamani, Feng Zhang, O A Shchelochkov et al. · Journal of Medical Genetics · 2009 · 168 citations

Deletions of Distal 9p Associated with 46,XY Male to Female Sex Reversal: Definition of the Breakpoints at 9p23.3–p24.1

Reiner A. Veitia, Manoel Nunes, Raja Brauner et al. · Genomics · 1997 · 109 citations

Andrology, Genetics, Female Sex Reversal +11

A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes

Justine Besseau-Ayasse, C. Violle-Poirsier, Anne Bazin et al. · Prenatal Diagnosis · 2014 · 59 citations

Xq28 duplication including <i><scp>MECP2</scp></i> in six unreported affected females: what can we learn for diagnosis and genetic counselling?

Salima El Chehadeh, Renaud Touraine, Fabienne Prieur et al. · Clinical Genetics · 2016 · 54 citations