Capucine Hyon - Publications

A novel P1PK-null allele in a Belgian patient with a p phenotype.

Journal: Transfusion

Published: June 10, 2026

SRY-negative 46,XX testicular/ovotesticular DSD: Long-term outcomes and early blockade of gonadotropic axis.

Journal: Clinical endocrinology

Published: August 07, 2020

A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation-Case Report With Literature Review.

Journal: Frontiers in pediatrics

Published: February 15, 2019

Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?

Journal: European journal of endocrinology

Published: April 12, 2018

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

Journal: American journal of human genetics

Published: November 20, 2017

Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: November 13, 2017

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

Journal: Human molecular genetics

Published: October 08, 2017

Usefulness of CGH-array and SNP-array for the etiological diagnosis of premature ovarian insufficiency

Journal: Biologie aujourd'hui

Published: June 26, 2017

Deletion of CPEB1 Gene: A Rare but Recurrent Cause of Premature Ovarian Insufficiency.

Journal: The Journal of clinical endocrinology and metabolism

Published: March 23, 2016

Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.

Journal: European journal of medical genetics

Published: January 23, 2015

Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).

Journal: American journal of medical genetics. Part A

Published: December 29, 2014

Nuclear volume differences between balanced and unbalanced spermatozoa in chromosomal translocation carriers.

Journal: Reproductive biomedicine online

Published: July 03, 2014