Publications by authors named "Capucine Hyon"

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SRY-negative 46,XX testicular/ovotesticular DSD: Long-term outcomes and early blockade of gonadotropic axis.
Sophie Lambert, Matthieu Peycelon, Dinane Samara-Boustani, Capucine Hyon, Laurence Dumeige

Clin Endocrinol (Oxf)· April 2021

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A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation-Case Report With Literature Review.
Adela Chirita Emandi, Andreea Iulia Dobrescu, Gabriela Doros, Capucine Hyon, Diana Miclea

Front Pediatr· July 2019

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Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias.
Matthieu Peycelon, Lamisse Mansour-Hendili, Capucine Hyon, Nathalie Collot, Muriel Houang

Sex Dev· October 2018

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Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?
Laurence Dumeige, Livie Chatelais, Claire Bouvattier, Marc De Kerdanet, Capucine Hyon

Eur J Endocrinol· September 2018

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[Usefulness of CGH-array and SNP-array for the etiological diagnosis of premature ovarian insufficiency].
Capucine Hyon

Biol Aujourdhui· August 2018

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Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.
Marie-France Portnoi, Marie-Charlotte Dumargne, Sandra Rojo, Selma F Witchel, Andrew J Duncan, Capucine Hyon

Hum Mol Genet· April 2018

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Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.
Anu Bashamboo, Caroline Eozenou, Anne Jorgensen, Joelle Bignon-Topalovic, Jean-Pierre Siffroi, Capucine Hyon

Am J Hum Genet· March 2018

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Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.
Solveig Heide, Alexandra Afenjar, Patrick Edery, Damien Sanlaville, Boris Keren, Capucine Hyon

Eur J Med Genet· March 2016

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Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).
Capucine Hyon, Sandra Chantot-Bastaraud, Radu Harbuz, Rakia Bhouri, Nicolas Perrot

Am J Med Genet A· August 2015

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Nuclear volume differences between balanced and unbalanced spermatozoa in chromosomal translocation carriers.
Alexandre Rouen, Alinoë Lavillaureix, Capucine Hyon, Solveig Heide, Sylvain Clède

Reprod Biomed Online· March 2015

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Are human male patients with DAX1/NR0B1 mutations infertile?
Célia Ravel, Capucine Hyon, Jean-Pierre Siffroi, Sophie Christin-Maitre

Ann Endocrinol (Paris)· May 2014

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First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier.
Alexandre Rouen, Capucine Hyon, Richard Balet, Nicole Joyé, Nino Guy Cassuto

Case Rep Genet· March 2014

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Discontinuous gradient centrifugation (DGC) decreases the proportion of chromosomally unbalanced spermatozoa in chromosomal rearrangement carriers.
Alexandre Rouen, Richard Balet, Maud Dorna, Capucine Hyon, Xavier Pollet-Villard

Hum Reprod· July 2013

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Simultaneous cell by cell study of both DNA fragmentation and chromosomal segregation in spermatozoa from chromosomal rearrangement carriers.
Alexandre Rouen, Ketty Pyram, Xavier Pollet-Villard, Capucine Hyon, Maud Dorna

J Assist Reprod Genet· March 2013

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Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling.
Marie-France Portnoï, Sandra Chantot-Bastaraud, Sophie Christin-Maitre, Bruno Carbonne, Marie-Paule Beaujard, Capucine Hyon

Eur J Med Genet· November 2012

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Sperm fluorescence in situ hybridization study in nine men carrying a Robertsonian or a reciprocal translocation: relationship between segregation modes and high-magnification sperm morphology examination.
Nino Guy Cassuto, Nathalie Le Foll, Sandra Chantot-Bastaraud, Richard Balet, Dominique Bouret, Capucine Hyon

Fertil Steril· October 2011

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A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation.
Capucine Hyon, Sandrine Marlin, Sandra Chantot-Bastaraud, Philippe Mabboux, Marie-Paule Beaujard

Eur J Med Genet· September 2011

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Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.
Christian Wentzel, Evica Rajcan-Separovic, Claudia A L Ruivenkamp, Sandra Chantot-Bastaraud, Corinne Metay, Capucine Hyon

Eur J Hum Genet· September 2011

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