Zobrazeno 1 - 10
of 62
pro vyhledávání: '"K. Azibi"'
Autor:
K. Azibi, Brigitte Delemer, Jacques Young, Sara Barraud, Cherif Beldjord, Reiner A. Veitia, Jérôme Fagart, Anne-Laure Todeschini, Justine Bouilly, Catherine Dodé, Nadine Binart, Isabelle Beau, Valérie Bernard, Anne Fèvre
Publikováno v:
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2016, 101 (12), pp.4541-4550. ⟨10.1210/jc.2016-2152⟩
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2016, 101 (12), pp.4541-4550. ⟨10.1210/jc.2016-2152⟩
Context: Idiopathic primary ovarian insufficiency (POI) is a major cause of amenorrhea and infertility. POI affects 1% of women before age 40 years, and several genetic causes have been reported. To date, POI has been considered a monogenic disorder.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::699dfeebedbee217fbc629130c5fe97b
https://hal.archives-ouvertes.fr/hal-02896004
https://hal.archives-ouvertes.fr/hal-02896004
Autor:
Brigitte Delemer, Jérôme Bouligand, Florence Roucher-Boulez, A.C. Hecart, Jacques Young, Cherif Beldjord, K. Azibi, Justine Bouilly, A. Mantel, Nadine Binart, Hélène Bry-Gauillard, Anne Gompel, Catherine Dodé
Publikováno v:
The Journal of clinical endocrinology and metabolism. 100(3)
Context: Primary ovarian insufficiency (POI) is a major cause of anovulation and infertility in women. This disease affects 1% of women before 40 years, and several genetic causes have been reported. Objective: The aim of the study was to evaluate th
Publikováno v:
Clinical Genetics. 61:423-429
The gene encoding endothelial nitric oxide synthase (eNOS) is involved in abnormalities in nitric oxide (NO) synthesis that mediates functional damage of vascular cells, especially of endothelial cells (ECs), a common characteristic in cardiovascular
Autor:
J. Bouilly, K. Azibi, Nadine Binart, B. Delemer, Catherine Dodé, A. Fevre, Jacques Young, Isabelle Beau, Cherif Beldjord, S. Barraud
Publikováno v:
Annales d'Endocrinologie. 76:326-327
Contexte L’insuffisance ovarienne primaire (IOP) touchant environ 1 % des femmes, est une pathologie multifactorielle caracterisee par une amenorrhee et une elevation des gonadotrophines avant l’âge de 40 ans. L’IOP peut etre expliquee par un
Autor:
I. Penisson, Marc Jeanpierre, Nathalie Deburgrave, Michel Fardeau, K. Azibi, O. Tanguy, F. Leturcq, Luciano Merlini, Michèle Mayer, Fernando M.S. Tomé, J. C. Kaplan, Kevin P. Campbell, Alain Carrié, Norma B. Romero, Bruno Eymard, F. Piccolo, H. Collin, M. Chaouch, C. Themar-Noel
Publikováno v:
Neurology. 48:1227-1234
Primary adhalin (or alpha-sarcoglycan) deficiency due to a defect of the adhalin gene localized on chromosome 17q21 causes an autosomal recessive myopathy. We evaluated 20 patients from 15 families (12 from Europe and three from North Africa) with a
Autor:
F. Leturcq, Jacques S. Beckmann, Jon Andoni Urtizberea, K. Azibi, Rajagopal Krishnamoorthy, J.-C. Kaplan, Marc Jeanpierre, Luciano Merlini, C. Navarro, Kevin P. Campbell, Fernando M.S. Tomé, Laura Jarre, Annick Toutain, F. Piccolo, Catherine Dodé
Publikováno v:
Human Molecular Genetics. 5:2019-2022
We investigated the molecular basis of a severe form of early onset autosomal recessive muscular dystrophy with sarcoglycan (SG) deficiency in seven large Gypsy families living in different parts of Western Europe and apparently not closely related.
Autor:
Jacques Young, K. Azibi, A. Fevre, Cherif Beldjord, Sara Barraud, Valérie Bernard, B. Delemer, Jérôme Fagart, Nadine Binart, Isabelle Beau, J. Bouilly, Catherine Dodé
Publikováno v:
Annales d'Endocrinologie. 76:299
L’insuffisance ovarienne primaire (IOP) est une cause majeure d’anovulation et d’infertilite chez la femme. Cette insuffisance est le resultat d’une depletion du stock des follicules ou d’un blocage de leur maturation. De ce fait, la steril
Autor:
B. Delemer, K. Azibi, Jacques Young, Cherif Beldjord, A.C. Hecart, Nadine Binart, Catherine Dodé, S. Barraud, J. Bouilly
Publikováno v:
Annales d'Endocrinologie. 75:329
L’insuffisance ovarienne primaire (IOP) est une maladie rare, definie par une amenorrhee de plus de 4 mois avant l’âge de 40 ans. Une origine genetique de cette maladie est parfois retrouvee avec des mutations des autosomes (FSHR, NOBOX…) et/o
Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity
Autor:
Alain Carrié, H. Collin, D. Recan, A. Reghis, F. Leturcq, Fernando M.S. Tomé, Cherif Beldjord, J.C. Kaplan, M. Chaouch, F. El Kerch, Luciano Merlini, Steven L. Roberds, Abdelaziz Sefiani, Jacques S. Beckmann, Michel Fardeau, Bruno Eymard, Kevin P. Campbell, Marc Jeanpierre, F. Piccolo, Norma B. Romero, K. Azibi, Thomas Voit
Publikováno v:
Nature Genetics. 10:243-245
Marked deficiency of muscle adhalin, a 50 kDa sarcolemmal dystrophin-associated glycoprotein, has been reported in severe childhood autosomal recessive muscular dystrophy (SCARMD). This is a Duchenne-like disease affecting both males and females firs
Autor:
Jean-Claude Kaplan, K. Azibi, Fernando M.S. Tomé, Michel Fardeau, M. Chaouch, H. Collin, Kevin P. Campbell, K. Matsumura
Publikováno v:
Nature. 359:320-322
X-LINKED recessive Duchenne muscular dystrophy (DMD) is caused by the absence of dystrophin, a membrane cytoskeletal protein1,2. Dystrophin is associated with a large oligomeric com-plex of sarcolemmal glycoproteins3–10. The dystrophin–glycoprote