Catherine Rydlewski

Autosomal Dominant Transmission of Congenital Thyroid Hypoplasia Due to Loss-of-Function Mutation of PAX8¹

Catheline Vilain, Catherine Rydlewski, Laurence Duprez et al. · The Journal of Clinical Endocrinology & Metabolism · 2001 · 149 citations · Full text

Medicine, Endocrinology, Genetics +17

Characterization of a Novel Loss of Function Mutation of PAX8 in a Familial Case of Congenital Hypothyroidism with In-Place, Normal-Sized Thyroid

Laurent Meeus, Brigitte Gilbert, Catherine Rydlewski et al. · The Journal of Clinical Endocrinology & Metabolism · 2004 · 118 citations · Full text

Life Sciences, Endocrinology, Genetics +17

Autosomal Dominant Resistance to Thyrotropin as a Distinct Entity in Five Multigenerational Kindreds: Clinical Characterization and Exclusion of Candidate Loci

Helmut Grasberger, Aviva Mimouni-Bloch, Marie‐Christine Vantyghem et al. · The Journal of Clinical Endocrinology & Metabolism · 2005 · 33 citations · Full text

Medicine, Endocrinology, Genetics +12

Ectopic Thyroid Gland Causing Dysphonia: Imaging and Molecular Studies

Sophie Stoppa‐Vaucher, Annie Lapointe, Sophie Turpin et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 31 citations · Full text

Medicine, Nuclear Medicine, Otolaryngology +17

A novel inactivating mutation of the LH/chorionic gonadotrophin receptor with impaired membrane trafficking leading to Leydig cell hypoplasia type 1

Adolfo Rivero‐Müller, Iulia Potorac, Axelle Pintiaux et al. · European Journal of Endocrinology · 2015 · 28 citations · Full text

Medicine, Endocrinology, Genetics +17