Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Genevieve Abeguile"'
Autor:
Nicolas Richard, Martin Kaufmann, Arnaud Wiedemann, Marie-Laure Kottler, Arthur Sorlin, Nick Demers, François Feillet, Georges Weryha, Hervé Mittre, Nadia Coudray, Jérémy Do Cao, Genevieve Abeguile, Brigitte Dousset, Arnaud Molin, Laurent Mainard, Glenville Jones, Pierre Journeau
Publikováno v:
Journal of Bone and Mineral Research. 32:1893-1899
Vitamin D requires a two-step activation by hydroxylation: The first step is catalyzed by hepatic 25-hydroxylase (CYP2R1, 11p15.2) and the second one is catalyzed by renal 1α-hydroxylase (CYP27B1, 12q13.1), which produces the active hormonal form of
Autor:
Nadia Coudray, Genevieve Abeguile, Mireille Castanet, Marie-Laure Kottler, Philippe Eckart, Arnaud Molin, Hervé Mittre, Nicolas Richard, Marie Nowoczyn, Celine Ballandone
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2018, 62 (11), pp.103577. ⟨10.1016/j.ejmg.2018.11.011⟩
European Journal of Medical Genetics, Elsevier, 2018, 62 (11), pp.103577. ⟨10.1016/j.ejmg.2018.11.011⟩
International audience; Loss-of-function mutations in CYP24A1 (MIM 126065 20q13.2), the gene encoding the 24-hydroxylase responsible for 25-OH-D and 1,25-(OH)2D degradation, are identified in about 20% of patients presenting Idiopathic Infantile Hype
Autor:
Slawomir Wolczynski, Marie Laure Kottler, Monika Zbucka-Kretowska, Genevieve Abeguile, Naama Marcus-Braun, Peter von Theobald, Cyril Eboue
Publikováno v:
Folia Histochemica et Cytobiologica, Vol 49, Iss 3, Pp 521-527 (2011)
The precise role of estrogen in the pathogenesis of pelvic organ prolapse (POP) is still unclear, while the results concerning the effect of selective estrogen receptor modulators on pelvic organ prolapse are contradictory. Our aim was to test whethe
Publikováno v:
Pathologie Biologie. 58:367-371
Parental imprinting and the type of the genetic alteration play a determinant role in the phenotype expression of GNAS locus associated to pseudohypoparathyroidism (PHP). This imprint is tissue-specific, mainly localized in the kidney and the thyroid
Autor:
Genevieve Abeguile, Nicolas Gruchy, Cindy Colson, Mathieu Decamp, Nicolas Richard, Marie-Laure Kottler
Publikováno v:
Endocrine Abstracts.
Autor:
Nicolas Gruchy, Genevieve Abeguile, Marie-Laure Kottler, Hervé Mittre, Nadia Coudray, Joris Andrieux, Pascal Cathebras, Nicolas Richard
Publikováno v:
The Journal of clinical endocrinology and metabolism. 97(5)
Patients with pseudohypoparathyroidism type Ib (PHP-1b) develop resistance toward PTH, leading to hypocalcemia and hyperphosphatemia. PHP-1b is an imprinted human disorder associated with methylation changes at one or several differentially methylate
Autor:
A. Coëslier Dieux, Genevieve Abeguile, Jean-Pierre Salles, H. Journel, A. Taieb, M. Lebrun, Didier Lacombe, Nicolas Richard, S. Gandon-Laloum, S. Odent, Albert David, Marie-Laure Kottler, G. Pinto
Publikováno v:
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 2010, 95 (6), pp.3028-38. ⟨10.1210/jc.2009-1451⟩
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2010, 95 (6), pp.3028-38. ⟨10.1210/jc.2009-1451⟩
Journal of Clinical Endocrinology and Metabolism, 2010, 95 (6), pp.3028-38. ⟨10.1210/jc.2009-1451⟩
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2010, 95 (6), pp.3028-38. ⟨10.1210/jc.2009-1451⟩
Context: Heterozygous GNAS inactivating mutations are known to induce pseudohypoparathyroidism type 1a when maternally inherited and pseudopseudohypoparathyroidism when paternally inherited. Progressive osseous heteroplasia (POH) is a rare disease of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa8694bbd52f7ce5894ae26979553072
https://www.hal.inserm.fr/inserm-00480041/document
https://www.hal.inserm.fr/inserm-00480041/document
Autor:
Catherine Ozilou, Laurence Faivre, Valérie Cormier-Daire, Damien Sanlaville, Genevieve Abeguile, Michel Vekemans, Serge Romana, Dinane Boustani-Samara, Arnold Munnich, Marguerite Jambou, Graziella Pinto, Philippe Gosset, David Geneviève, Marie-Laure Kottler, Odile Raoul
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2005, 13, pp.1033-1039
European Journal of Human Genetics, Nature Publishing Group, 2005, 13, pp.1033-1039
Deletions of the long arm of chromosome 20 are rare. Here, we report on two girls with a very small interstitial deletion of the long arm of chromosome 20 presenting with severe pre- and post-natal growth retardation, intractable feeding difficulties
Publikováno v:
Annales d'Endocrinologie. 74:292
Publikováno v:
Annales d'Endocrinologie. 74:262