Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Isabelle Guemas"'
Autor:
F. Balazard, S. Le Fur, S. Valtat, A. J. Valleron, P. Bougnères, Isis-Diab collaborative group, Dominique Thevenieau, Corinne Fourmy Chatel, Rachel Desailloud, Hélène Bony-Trifunovic, Pierre-Henri Ducluzeau, Régis Coutant, Sophie Caudrelier, Armelle Pambou, Emmanuelle Dubosclard, Florence Joubert, Philippe Jan, Estelle Marcoux, Anne-Marie Bertrand, Brigitte Mignot, Alfred Penformis, Chantal Stuckens, Régis Piquemal, Pascal Barat, Vincent Rigalleau, Chantal Stheneur, Sylviane Fournier, Véronique Kerlan, Chantal Metz, Anne Fargeot-Espaliat, Yves Reznic, Frédérique Olivier, Iva Gueorguieva, Arnaud Monier, Catherine Radet, Vincent Gajdos, Daniel Terral, Christine Vervel, Djamel Bendifallah, Candace Ben Signor, Daniel Dervaux, Abdelkader Benmahammed, Guy-André Loeuille, Françoise Popelard, Agnès Guillou, Pierre-Yves Benhamou, Jamil Khoury, Jean-Pierre Brossier, Joachim Bassil, Sylvaine Clavel, Bernard Le Luyer, Pierre Bougnères, Françoise Labay, Isabelle Guemas, Jacques Weill, Jean-Pierre Cappoen, Sylvie Nadalon, Anne Lienhardt-Roussie, Anne Paoli, Claudie Kerouedan, Edwige Yollin, Marc Nicolino, Gilbert Simonin, Jacques Cohen, Catherine Atlan, Agnès Tamboura, Hervé Dubourg, Marie-Laure Pignol, Philippe Talon, Stéphanie Jellimann, Lucy Chaillous, Sabine Baron, Marie-Noëlle Bortoluzzi, Elisabeth Baechler, Randa Salet, Ariane Zelinsky-Gurung, Fabienne Dallavale, Etienne Larger, Marie Laloi-Michelin, Jean-François Gautier, Bénédicte Guérin, Laure Oilleau, Laetitia Pantalone, Céline Lukas, Isabelle Guilhem, Marc De Kerdanet, Marie-Claire Wielickzo, Mélanie Priou-Guesdon, Odile Richard, François Kurtz, Norbert Laisney, Déborah Ancelle, Guilhem Parlier, Catherine Boniface, Dominique Paris Bockel, Denis Dufillot, Berthe Razafimahefa, Pierre Gourdy, Pierre Lecomte, Myriam Pepin-Donat, Marie-Emmanuelle Combes-Moukhovsky, Brigitte Zymmermann, Marina Raoulx, Anne Gourdin et Catherine Dumont
Publikováno v:
BMC Public Health, Vol 16, Iss 1, Pp 1-10 (2016)
Abstract Background The incidence of childhood type 1 diabetes (T1D) incidence is rising in many countries, supposedly because of changing environmental factors, which are yet largely unknown. The purpose of the study was to unravel environmental mar
Externí odkaz:
https://doaj.org/article/79bbfdce5e9440ecaf010dfed514cf60
Autor:
Laurence Perrin, Marjolaine Willems, Sylvie Rossignol, Hélène Bony-Trifunovic, Cécile Brachet, Catherine Naud-Saudreau, Frédéric Brioude, Claire Sechter, Domitille Thomas, Walid Abi Habib, Georges Gelwane, Elise Brischoux-Boucher, Laurence Berard, Virginie Steunou, Claire Jeandel, Yves Le Bouc, Muriel Houang, Irène Netchine, Eloise Giabicani, Sandra Chantot-Bastaraud, Bertrand Isidor, Salah Azzi, James Lespinasse, Isabelle Guemas, Monique Jesuran-Perelroizen, Emmanuelle Caldagues, Pierre-François Souchon, Juliette Piard, Nathalie Thibaud, Marie-Laure Cuvelier, Bich Lam, Régis Coutant, Caroline Storey
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, In press, ⟨10.1136/jmedgenet-2019-106328⟩
Journal of Medical Genetics, BMJ Publishing Group, In press, ⟨10.1136/jmedgenet-2019-106328⟩
Journal of Medical Genetics, In press, ⟨10.1136/jmedgenet-2019-106328⟩
Journal of Medical Genetics, BMJ Publishing Group, In press, ⟨10.1136/jmedgenet-2019-106328⟩
BackgroundThe type 1 insulin-like growth factor receptor (IGF1R) is a keystone of fetal growth regulation by mediating the effects of IGF-I and IGF-II. Recently, a cohort of patients carrying an IGF1R defect was described, from which a clinical score
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30ee6d49255a92d9a87bc5b4b19c1735
https://hal.sorbonne-universite.fr/hal-02435128
https://hal.sorbonne-universite.fr/hal-02435128
Autor:
Eloïse, Giabicani, Marjolaine, Willems, Virginie, Steunou, Sandra, Chantot-Bastaraud, Nathalie, Thibaud, Walid, Abi Habib, Salah, Azzi, Bich, Lam, Laurence, Bérard, Hélène, Bony-Trifunovic, Cécile, Brachet, Elise, Brischoux-Boucher, Emmanuelle, Caldagues, Regis, Coutant, Marie-Laure, Cuvelier, Georges, Gelwane, Isabelle, Guemas, Muriel, Houang, Bertrand, Isidor, Claire, Jeandel, James, Lespinasse, Catherine, Naud-Saudreau, Monique, Jesuran-Perelroizen, Laurence, Perrin, Juliette, Piard, Claire, Sechter, Pierre-François, Souchon, Caroline, Storey, Domitille, Thomas, Yves, Le Bouc, Sylvie, Rossignol, Irène, Netchine, Frédéric, Brioude
Publikováno v:
Journal of medical genetics. 57(3)
The type 1 insulin-like growth factor receptor (IGF1R) is a keystone of fetal growth regulation by mediating the effects of IGF-I and IGF-II. Recently, a cohort of patients carrying anDNA was tested for either deletions or single nucleotide variant (
Autor:
Jacques Cohen, Isabelle Guilhem, Gilbert Simonin, Françoise Labay, Brigitte Mignot, Chantal Stuckens, Anne-Marie Bertrand, Ariane Zelinsky-Gurung, Dominique Thevenieau, Corinne Fourmy Chatel, Régis Coutant, Vincent Gajdos, S. Le Fur, Marie-Emmanuelle Combes-Moukhovsky, Candace Ben Signor, Djamel Bendifallah, Florence Joubert, Anne Fargeot-Espaliat, Joachim Bassil, Agnès Tamboura, François Kurtz, Norbert Laisney, Agnès Guillou, Lucy Chaillous, Laetitia Pantalone, Sophie Valtat, Marie Laloi-Michelin, Chantal Stheneur, Emmanuelle Dubosclard, Anne Paoli, Véronique Kerlan, Yves Reznic, Sylvaine Clavel, Claudie Kerouedan, Philippe Talon, Armelle Pambou, Iva Gueorguieva, Daniel Dervaux, Hélène Bony-Trifunovic, Régis Piquemal, Pierre Gourdy, Brigitte Zymmermann, Hervé Dubourg, Rachel Desailloud, Stéphanie Jellimann, Pierre-Henri Ducluzeau, Bernard Le Luyer, Guy-André Loeuille, Jamil Khoury, Catherine Atlan, Elisabeth Baechler, Felix Balazard, Berthe Razafimahefa, Pierre Lecomte, Randa Salet, Marina Raoulx, Marie-Laure Pignol, Jean-François Gautier, Christine Vervel, Anne Lienhardt-Roussie, Françoise Popelard, P. Bougnères, Sylviane Fournier, Myriam Pepin-Donat, Mélanie Priou-Guesdon, Marc Nicolino, Sabine Baron, Vincent Rigalleau, Pierre-Yves Benhamou, Edwige Yollin, Marie-Claire Wielickzo, Jacques Weill, Pascal Barat, Déborah Ancelle, Jean-Pierre Brossier, Fabienne Dallavale, Laure Oilleau, Catherine Radet, Sylvie Nadalon, Chantal Metz, Etienne Larger, Céline Lukas, Sophie Caudrelier, Isabelle Guemas, Dominique Paris Bockel, Pierre Bougnères, Arnaud Monier, Estelle Marcoux, Alfred Penformis, Abdelkader Benmahammed, Daniel Terral, Philippe Jan, Marc De Kerdanet, Alain-Jacques Valleron, Catherine Boniface, Denis Dufillot, Frédérique Olivier, Jean-Pierre Cappoen, Anne Gourdin et Catherine Dumont, Guilhem Parlier, Bénédicte Guérin, Marie-Noëlle Bortoluzzi, Odile Richard
Publikováno v:
BMC Public Health
BMC Public Health, BioMed Central, 2016, 16 (1), ⟨10.1186/s12889-016-3690-9⟩
BMC Public Health, 2016, 16 (1), ⟨10.1186/s12889-016-3690-9⟩
BMC Public Health, Vol 16, Iss 1, Pp 1-10 (2016)
BMC Public Health, BioMed Central, 2016, 16 (1), pp.1021. ⟨10.1186/s12889-016-3690-9⟩
BMC Public Health, 2016, 16 (1), pp.1021. ⟨10.1186/s12889-016-3690-9⟩
BMC Public Health, BioMed Central, 2016, 16 (1), ⟨10.1186/s12889-016-3690-9⟩
BMC Public Health, 2016, 16 (1), ⟨10.1186/s12889-016-3690-9⟩
BMC Public Health, Vol 16, Iss 1, Pp 1-10 (2016)
BMC Public Health, BioMed Central, 2016, 16 (1), pp.1021. ⟨10.1186/s12889-016-3690-9⟩
BMC Public Health, 2016, 16 (1), pp.1021. ⟨10.1186/s12889-016-3690-9⟩
BackgroundThe incidence of childhood type 1 diabetes (T1D) incidence is rising in many countries, supposedly because of changing environmental factors, which are yet largely unknown.PurposeTo unravel environmental markers associated with T1D. Methods
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d789a8035ef217a4f1e773151427fc3d
https://hal.univ-brest.fr/hal-02038642
https://hal.univ-brest.fr/hal-02038642
Autor:
Mireille Castanet, Isabelle Guemas, Isabelle Labedan, Christophe Delacourt, Fouad Madhi, Michel Polak, Elodie Tron, Rui M. B. Maciel, Aurore Carré, Helton Estrela Ramos
Publikováno v:
Thyroid. 20:639-645
Congenital central hypothyroidism (CCH) is a rare condition that is often diagnosed in late childhood in countries where neonatal screening programs rely solely on detecting thyrotropin (TSH) elevation. TSHbeta gene mutation is one of the causes of C
Autor:
Patricia Bretones, Juliane Léger, Cécile Lambe, Nicolas de Roux, Delphine Zenaty, Isabelle Guemas, Michel David
Publikováno v:
Molecular and Cellular Endocrinology. :78-83
Kallmann syndrome characterised by hypogonadotropic hypogonadism (HH) and anosmia is genetically heterogeneous with X-linked, autosomal dominant and autosomal recessive forms. The autosomal dominant form due to loss of function mutation in the fibrob
Autor:
Helton E. Ramos, Isabelle Labedan, Aurore Carré, Mireille Castanet, Isabelle Guemas, Elodie Tron, Fouad Madhi, Christophe Delacourt, Rui M.B. Maciel, Michel Polak
Publikováno v:
Thyroid; Jun2010, Vol. 20 Issue 6, p639-645, 7p