L Duprez

Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.

Marc Abramowicz, L Duprez, Jasmine Parma et al. · Journal of Clinical Investigation · 1997 · 257 citations · Full text

Thyrotropin Receptor, Developmental Biology, Genetic Disorder +15

Should determination of the karyotype be systematic for all malformations detected by obstetrical ultrasound?

Melanie Staebler, Catherine Donner, Nicole Van Regemorter et al. · Prenatal Diagnosis · 2005 · 119 citations

Non-disjunction of chromosome 13

Merete Bugge, Andrew Collins, Jens Michael Hertz et al. · Human Molecular Genetics · 2007 · 118 citations · Full text

Cytogenetics, Genetics, Molecular Genetics +18

Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.

Marc Abramowicz, Marc Andrien, E. Dupont et al. · Journal of Clinical Investigation · 1994 · 87 citations · Full text

Mutated Gene, Genetic Determinant, Genetic Disorder +12

Congenital Central Isolated Hypothyroidism Caused by a Homozygous Mutation in the TSH-β Subunit Gene

Claudine Heinrichs, J Parma, Neal H. Scherberg et al. · Thyroid · 2000 · 57 citations