Chantal Metz

SEMA3A, a Gene Involved in Axonal Pathfinding, Is Mutated in Patients with Kallmann Syndrome

Naresh K. Hanchate, Paolo Giacobini, Pierre Lhuillier et al. · PLoS Genetics · 2012 · 216 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study

Kanetee Busiah, Séverine Drunat, Laurence Vaivre‐Douret et al. · The Lancet Diabetes & Endocrinology · 2013 · 113 citations

Medicine, Genetics, Pediatrics +17

Neonatal diabetes mellitus: Chromosomal analysis in transient and permanent cases

Chantal Metz, Hélène Cavé, A Bertrand et al. · The Journal of Pediatrics · 2002 · 108 citations

Medicine, Genetics, Pediatrics +14

The Prevalence of<i>CHD7</i>Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients

Séverine Marcos, Julie Sarfati, Chrystel Leroy et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 86 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mineralocorticoid Receptor Mutations and a Severe Recessive Pseudohypoaldosteronism Type 1

Edwige-Ludiwyne Hubert, Raphaël Teissier, Fábio L. Fernandes‐Rosa et al. · Journal of the American Society of Nephrology · 2011 · 37 citations · Full text

Medicine, Genetics, Molecular Genetics +13