Nathalie Leporrier

Second‐trimester Down syndrome maternal serum marker screening: a prospective study of 11 040 twin pregnancies

Aurélie Garchet‐Beaudron, Sophie Dreux, Nathalie Leporrier et al. · Prenatal Diagnosis · 2008 · 175 citations

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

Camille Leroy, Emilie Landais, Sylvain Briault et al. · European Journal of Human Genetics · 2012 · 131 citations · Full text

Clinical Disorders, New Patients, Genetic Disorder +4

Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes

Leire Madariaga, Vincent Morinière, Raymonde Bouvier et al. · Clinical Journal of the American Society of Nephrology · 2013 · 104 citations · Full text

A paternally transmitted complex chromosomal rearrangement (CCR) involving chromosomes 2, 6, and 18 includes eight breakpoints and five insertional translocations (ITs) through three generations

Nicolas Gruchy, M. Barreau, Ketty Kessler et al. · American Journal of Medical Genetics Part A · 2009 · 86 citations

Supernumerary marker chromosomes management in prenatal diagnosis

Nicolas Gruchy, Marine Lebrun, M. Herlicoviez et al. · American Journal of Medical Genetics Part A · 2008 · 85 citations