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pro vyhledávání: '"M.F. Odou"'
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Autor:
M.F. Odou, Mélanie Métallo, Marie-Odile North, Françoise Borson-Chazot, Laurence Duchesne, Margaux Dufosse, S. Giraud, Tonio Lovecchio, Catherine Bauters, Lucie Coppin, Pauline Romanet, Anne Barlier
Publikováno v:
European Journal of Endocrinology
European Journal of Endocrinology, 2020, 182, pp.57-65. ⟨10.1530/eje-19-0641⟩
European Journal of Endocrinology, BioScientifica, 2020, 182, pp.57-65. ⟨10.1530/eje-19-0641⟩
European Journal of Endocrinology, 2020, 182, pp.57-65. ⟨10.1530/eje-19-0641⟩
European Journal of Endocrinology, BioScientifica, 2020, 182, pp.57-65. ⟨10.1530/eje-19-0641⟩
Objective Primary hyperparathyroism (PHPT) is a disease with either sporadic or inherited presentation. Germline mutations responsible for this disease can be found in different genes, the most frequently involved being MEN1, CDC73 = HRPT2 and CASR.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fb0195278ac76316cd19ce0e16dad2e
https://hal-amu.archives-ouvertes.fr/hal-03216133
https://hal-amu.archives-ouvertes.fr/hal-03216133
Autor:
Florence Petit, Clémence Vanlerberghe, Thomas Smol, Fabienne Giuliano, M.F. Odou, Sylvie Manouvrier-Hanu, Perrine Brunelle, William Dufour, Malika Balduyck, Fabienne Escande, Jamal Ghoumid, Marion Gérard, Philippe Khau Van Kien, Gilles Morin, Cindy Colson, Alice Goldenberg, Elise Brischoux-Boucher, Anne Dieux, Daphné Lehalle, Anne-Sophie Jourdain, Sébastien Moutton, Simon Boussion
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2020, 41 (1), pp.222-239. ⟨10.1002/humu.23912⟩
Human Mutation, 2020, 41 (1), pp.222-239. ⟨10.1002/humu.23912⟩
Human Mutation, Wiley, 2020, 41 (1), pp.222-239. ⟨10.1002/humu.23912⟩
Human Mutation, 2020, 41 (1), pp.222-239. ⟨10.1002/humu.23912⟩
International audience; Congenital limb malformations (CLM) comprise many conditions affecting limbs and more than 150 associated genes have been reported. Due to this large heterogeneity, a high proportion of patients remains without a molecular dia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::442a321a046abc8e34efc6fb91cfcacc
https://hal.archives-ouvertes.fr/hal-02393697
https://hal.archives-ouvertes.fr/hal-02393697
Publikováno v:
Annales d'Endocrinologie. 82:283
Autor:
Christine Lombard, Guillaume Tosato, M.F. Odou, Colette Chapuis Cellier, Malika Balduyck, Farid Zerimech, Jordan Teoli, Philippe Joly, Norman Abbou, Nicole Porchet, Céline Renoux
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2018, 13 (1), ⟨10.1186/s13023-018-0897-0⟩
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)
Orphanet Journal of Rare Diseases, BioMed Central, 2018, 13 (1), ⟨10.1186/s13023-018-0897-0⟩
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)
Alpha-1 antitrypsin deficiency is an autosomal co-dominant disorder caused by mutations of the highly polymorphic SERPINA1 gene. This genetic disorder still remains largely under-recognized and can be associated with lung and/or liver injury. The lab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d57fbfdd1edc23c90c51e54589bde238
https://hal-univ-lyon1.archives-ouvertes.fr/hal-02329350
https://hal-univ-lyon1.archives-ouvertes.fr/hal-02329350
Publikováno v:
Annales d'Endocrinologie. 81:137
Environ 10 % des hypercalcemies pourraient etre d’origine genetique. Il convient de distinguer les hypercalcemies en lien avec une hyperparathyroidie (HPT) et celles non liees a une HPT. L’origine genetique doit etre suspectee surtout si elle tou
Publikováno v:
Annales d'Endocrinologie. 81:137
Autor:
Catherine Cardot-Bauters, Olivier Chabre, B. Delemer, Emilie Castermans, Eric Clauser, Michel Rodier, Georges Weryha, M.F. Odou, Alain Calender, F. Borson-Chazot, Abderrahmane Bourredjem, F Schillo, H. Du Boullay, Jean-Marc Kuhn, Véronique Kerlan, Anne Barlier, Catherine Lombard-Bohas, P. Lecomte, S. Giraud, B. Goichot, Albert Beckers, Sophie Christin-Maitre, I. Guilhem, F. Archambeaud, A. Tabarin, Hélène Bihan, Eric Pasmant, Jean-Louis Sadoul, Philippe Chanson, Patricia Niccoli, Julien Thevenon, Jérôme Bertherat, Vincent Rohmer, Pierre Goudet, Marc Le Renard, Lionel Groussin, P. Caron, N. Bourcigaux, Christine Binquet, Eric Baudin, Bruno Vergès, Laurence Faivre, Philippe Ruszniewski, M. Le Bras
Publikováno v:
European Journal of Endocrinology
European Journal of Endocrinology, BioScientifica, 2015, 173 (6), pp.819-826
European Journal of Endocrinology, BioScientifica, 2015, 173 (6), pp.819-826. ⟨10.1530/EJE-15-0691⟩
European Journal of Endocrinology, BioScientifica, 2015, 173 (6), pp.819-826
European Journal of Endocrinology, BioScientifica, 2015, 173 (6), pp.819-826. ⟨10.1530/EJE-15-0691⟩
BackgroundMEN1, which is secondary to the mutation of the MEN1 gene, is a rare autosomal-dominant disease that predisposes mutation carriers to endocrine tumors. Most studies demonstrated the absence of direct genotype-phenotype correlations. The exi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abd436628d199413549ebf98b6d2aece
https://hal.univ-brest.fr/hal-02033147
https://hal.univ-brest.fr/hal-02033147
Autor:
C. Le Caignec, Catherine Cardot-Bauters, C. Thuillier, M. Crépin, M. Le Bras, Nicole Porchet, M.F. Odou, C. Grutzmacher, Lucie Coppin, Arnaud Murat, Pascal Pigny
Publikováno v:
Annales d'Endocrinologie. 77:280-281
Introduction L’hyperparathyroidie primaire peut s’inscrire dans un syndrome de predisposition hereditaire avec mutation germinale principalement de MEN1 ou CDC73. Nous presentons l’etude familiale realisee suite a la decouverte d’une hyperpar
Autor:
M.F. Odou, M. De Broucker, Damien Lannoy, L. Dubreuil, Christine Barthélémy, Pascal Odou, Bertrand Décaudin, Nicolas Simon, E. Poret
Publikováno v:
Pulmonary Pharmacology & Therapeutics. 23:324-326
Aminoglycosides are broad-spectrum antibiotics with peak-dependent bactericidal activity, administered by gravity infusion or for more accuracy by electronic pump infusion. The aim of this study was to assess the difference between the two systems an