Concepedia

Capucine Hyon

CH

15

Publications

732

Citations

13

H-Index

2009

Active since

Affiliations

Sorbonne Université(Current)

Assistance Publique – Hôpitaux de Paris

Hôpital Armand-Trousseau

Maladies génétiques d’expression pédiatrique

Inserm

Capucine Hyon is an author at Sorbonne Université specializing in genetics, medicine, and reproductive biology.

Top concepts

Publications per year

2009–2020

15

Publications

15

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to <i>ASPM</i> mutations

Sandrine Passemard, Luigi Titomanlio, Monique Elmaleh et al. · Neurology · 2009 · 103 citations

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

Anu Bashamboo, Caroline Eozénou, Anne Jørgensen et al. · The American Journal of Human Genetics · 2018 · 100 citations · Full text

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

Marie‐France Portnoï, Marie-Charlotte Dumargne, Sandra Rojo et al. · Human Molecular Genetics · 2018 · 82 citations · Full text

Familial Turner syndrome with an X;Y translocation mosaicism: Implications for genetic counseling

Marie‐France Portnoï, Sandra Chantot‐Bastaraud, Sophie Christin‐Maître et al. · European Journal of Medical Genetics · 2012 · 64 citations

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Refining the regulatory region upstream of <i>SOX9</i> associated with 46,XX testicular disorders of Sex Development (DSD)

Capucine Hyon, Sandra Chantot‐Bastaraud, Radu Harbuz et al. · American Journal of Medical Genetics Part A · 2015 · 62 citations · Full text

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