Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Capucine Hyon"'
Autor:
Adela Chirita Emandi, Andreea Iulia Dobrescu, Gabriela Doros, Capucine Hyon, Diana Miclea, Calin Popoiu, Maria Puiu, Smaranda Arghirescu
Publikováno v:
Frontiers in Pediatrics, Vol 7 (2019)
3q29 deletion syndrome is a rare disorder, causing a complex phenotype. Clinical features are variable and relatively non-specific. Our report aims to present an atypical, de novo deletion in chromosome band 3q29 in a preschool boy, first child of he
Externí odkaz:
https://doaj.org/article/4f9ab447177e4dc9bf32755f87f4dc03
Autor:
Alexandre Rouen, Capucine Hyon, Richard Balet, Nicole Joyé, Nino Guy Cassuto, Jean-Pierre Siffroi
Publikováno v:
Case Reports in Genetics, Vol 2014 (2014)
Introduction. Balanced chromosomal carriers, though usually healthy, are confronted with recurrent spontaneous abortions and malformations in the offspring. Those are related to the transmission of an abnormal, chromosomally unbalanced genotype. We e
Externí odkaz:
https://doaj.org/article/27f11d9a56dd4020bd52b58dee333980
Autor:
Cécile Brachet, Michel Peuchmaur, Juliane Léger, Capucine Hyon, Jean-Claude Carel, Claire Bouvattier, Alaa El Ghoneimi, Matthieu Peycelon, Dominique Simon, Ken McElreavey, Jérôme Bouligand, Jean-Pierre Siffroi, Dinane Samara-Boustani, Annabel Paye-Jaouen, Laurence Dumeige, Sophie Lambert, Laetitia Martinerie, Elodie Fiot
Publikováno v:
Clinical Endocrinology
Clinical Endocrinology, 2021, 94 (4), pp.667-676. ⟨10.1111/cen.14389⟩
Clinical Endocrinology, 2021, 94 (4), pp.667-676. ⟨10.1111/cen.14389⟩
International audience; Objective: SRY-negative 46,XX testicular and ovotesticular disorders/differences of sex development (T/OTDSD) represent a very rare and unique DSD condition where testicular tissue develops in the absence of a Y chromosome. To
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20d00f8992f2fc8ab9ef8375d9f06125
https://www.hal.inserm.fr/inserm-03790574
https://www.hal.inserm.fr/inserm-03790574
Autor:
Serge Amselem, Georges Audry, Nathalie Collot, Muriel Houang, M. Chabaud, Capucine Hyon, Matthieu Peycelon, Marie Legendre, Lamisse Mansour-Hendili, Jean-Pierre Siffroi, Marie-Dominique Bouvier
Publikováno v:
Sexual Development. 11:293-297
A heterozygous intragenic duplication within the repeated area (CTGCAGCTG)×2 of the NR5A1 gene was found in a 15-year-old 46,XY DSD (disorders/differences of sex development) patient with micropenis and severe proximal hypospadias. This heterozygous
Autor:
Capucine Hyon
Publikováno v:
Biologie Aujourd'hui. 211:199-205
Premature ovarian insufficiency (POI) defined by the cessation of ovarian function before the age of 40 years and the increase of gonadotropins (> 25 UI/l) occurs in approximately 1-5% of women. Different mechanisms are responsible for POI: chemother
Autor:
S. Christin-Maitre, L. Mansour-Hendili, Anne Gompel, Véronique Kerlan, Philippe Touraine, Yves Reznik, Sandra Chantot-Bastaraud, Jean-Pierre Siffroi, Bruno Donadille, B. Delemer, S. Jonard, Catherine Dodé, Capucine Hyon
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 101:2099-2104
Premature ovarian insufficiency (POI) may be secondary to chemotherapy, radiotherapy, or environmental factors. Genetic causes are identified in 20-25% of cases, but most POI cases remain idiopathic.This study aimed to identify new genes involved in
Autor:
Aleksandar Rajkovic, S. Christin-Maitre, Anu Bashamboo, Liliana Dain, Caroline Schluth-Bolard, McLean Whi, ossetti R, Caroline Eozenou, Svetlana A. Yatsenko, Inas Mazen, Etienne Patin, Selma F. Witchel, Ralf Jauch, Rajpert-De Meyts E, Joelle Bignon-Topalovic, Kristian Almstrup, Ken McElreavey, Marie-Charlotte Dumargne, Louis-Sylvestre C, Sandra Chantot-Bastaraud, de Malleray Pichard C, Jean-Pierre Siffroi, Célia Ravel, Violeta A. Chiauzzi, Capucine Hyon, John C. Achermann, Hassan Rouba, Stuart A. MacGowan, Reyes-ugica M, Andrew J. Duncan, Eduardo H. Charreau, Leila Fusee, Marie-France Portnoi, Sandra Rojo, Luca Persani, Raja Brauner, Validire P, Yogesh Srivastava
Publikováno v:
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Human Molecular Genetics
Human Molecular Genetics, 2018, 27 (7), pp.1228-1240. ⟨10.1093/hmg/ddy037⟩
Human molecular genetics, vol 27, iss 7
Human Molecular Genetics, Oxford University Press (OUP), 2018, 27 (7), pp.1228-1240. ⟨10.1093/hmg/ddy037⟩
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Human Molecular Genetics
Human Molecular Genetics, 2018, 27 (7), pp.1228-1240. ⟨10.1093/hmg/ddy037⟩
Human molecular genetics, vol 27, iss 7
Human Molecular Genetics, Oxford University Press (OUP), 2018, 27 (7), pp.1228-1240. ⟨10.1093/hmg/ddy037⟩
SOX8 is an HMG-box transcription factor closely related to SRY and SOX9. Deletion of the gene encoding Sox8 in mice causes reproductive dysfunction but the role of SOX8 in humans is unknown. Here, we show that SOX8 is expressed in the somatic cells o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c3735ed6276ab345f922c6d19eef946
https://academic.oup.com/hmg/article/27/7/1228/4823478
https://academic.oup.com/hmg/article/27/7/1228/4823478
Autor:
Caroline Eozenou, David Rodriguez-Buritica, Zita Halász, Jean-Pierre Siffroi, Joelle Bignon-Topalovic, Anne Jorgensen, Sophie Lambert, Rajpert-De Meyts E, János Sólyom, Anu Bashamboo, Ken McElreavey, Paye-Jaouen A, Rita Bertalan, Attila Tar, Capucine Hyon, John C. Achermann, Peter Nagy, Laetitia Martinerie
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (3), pp.487-493. ⟨10.1016/j.ajhg.2018.01.021⟩
American Journal of Human Genetics, 2018, 102 (3), pp.487-493. ⟨10.1016/j.ajhg.2018.01.021⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (3), pp.487-493. ⟨10.1016/j.ajhg.2018.01.021⟩
American Journal of Human Genetics, 2018, 102 (3), pp.487-493. ⟨10.1016/j.ajhg.2018.01.021⟩
International audience; Emerging evidence from murine studies suggests that mammalian sex determination is the outcome of an imbalance between mutually antagonistic male and female regulatory networks that canalize development down one pathway while
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e91d6a53f3d8867c6d02692f0689a27
https://hal-pasteur.archives-ouvertes.fr/pasteur-02872425
https://hal-pasteur.archives-ouvertes.fr/pasteur-02872425
Autor:
Clémentine Dupuis, Juliane Leger, Sabine Baron, Catherine Naud-Saudreau, Bruno Donadille, Jean-Claude Carel, Régis Coutant, Delphine Zenaty, Marc de Kerdanet, Sophie Christin-Maitre, Claire Bouvattier, Chantal Metz-Blond, Laurence Dumeige, Blandine Esteva, Capucine Hyon, Dinane Samara-Boustani, Marc Nicolino, Jean-Pierre Siffroi, Laetitia Martinerie, Livie Chatelais
Publikováno v:
European Journal of Endocrinology
European Journal of Endocrinology, BioScientifica, 2018, 179 (3), pp.181-190. ⟨10.1530/EJE-18-0309⟩
European Journal of Endocrinology, BioScientifica, 2018, 179 (3), pp.181-190. ⟨10.1530/EJE-18-0309⟩
Objective Few studies of patients with a 45,X/46,XY mosaicism have considered those with normal male phenotype. The purpose of this study was to evaluate the clinical outcome of 45,X/46,XY boys born with normal or minor abnormalities of external geni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f728bbdde258d2a3060d4fd052f9b397
https://hal.univ-angers.fr/hal-02616785
https://hal.univ-angers.fr/hal-02616785
Autor:
Alinoë Lavillaureix, Patrick Edery, Diane Doummar, Alexandra Afenjar, Capucine Hyon, Solveig Heide, Jean-Pierre Siffroi, Alexandre Rouen, Boris Keren, Sandra Chantot-Bastaraud, Damien Sanlaville
Publikováno v:
European Journal of Medical Genetics. 58:341-345
Xp21 continuous gene deletion syndrome is characterized by complex glycerol kinase deficiency (GK), adrenal hypoplasia congenital (NROB1), intellectual disability and/or Duchenne muscular dystrophy (DMD). The clinical features depend on the size of t