Isabelle Oliver‐Petit

<i>CDKN1C</i> mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome

Frédéric Brioude, Isabelle Oliver‐Petit, A. Blaise et al. · Journal of Medical Genetics · 2013 · 132 citations

Medicine, Genetics, Molecular Genetics +16

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Stefan Groeneweg, Ferdy S. van Geest, Ayhan Abacı et al. · The Lancet Diabetes & Endocrinology · 2020 · 113 citations · Full text

Life Sciences, Endocrinology, Immunology +3

ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors

Emmanuelle Uro‐Coste, Julien Masliah‐Planchon, Aurore Siegfried et al. · Acta Neuropathologica · 2018 · 62 citations

Medicine, Neurology, Oncology +12

Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis

Isabelle Oliver‐Petit, Thomas Édouard, Virginie Jacques et al. · Frontiers in Endocrinology · 2021 · 28 citations · Full text

Life Sciences, Endocrinology, Genetics +15

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients

Enzo Cohen, Mohamad Maghnie, Nathalie Collot et al. · The Journal of Clinical Endocrinology & Metabolism · 2016 · 27 citations · Full text

Life Sciences, Endocrinology, Genetics +17