Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Anne Lienhardt-Roussie"'
Autor:
Jean-Philippe Bertocchio, Natalie Grosset, Lionel Groussin, Peter Kamenický, Fabrice Larceneux, Anne Lienhardt-Roussie, Agnès Linglart, Gérard Maruani, Eric Mirallie, François Pattou, Riyad N H Seervai, Coralie Sido, Caroline Silve, Aurélie Vilfaillot, Antoine Tabarin, Marie-Christine Vantyghem, Pascal Houillier
Publikováno v:
Endocrine Connections, Vol 11, Iss 1, Pp 1-11 (2022)
Context: Recent guidelines have provided recommendations for the care of patients with chronic hypoparathyroidism. Very little is known about actual physicians’ practices or their adherence to such guidelines. Objective: To describe the physicians
Externí odkaz:
https://doaj.org/article/bf00ba6ee5f64061ab750abbff025138
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:
Claire Goursaud, Delphine Mallet, Alexandre Janin, Rita Menassa, Véronique Tardy-Guidollet, Gianni Russo, Anne Lienhardt-Roussie, Claudine Lecointre, Ingrid Plotton, Yves Morel, Florence Roucher-Boulez
Publikováno v:
Frontiers in Endocrinology, Vol 9 (2018)
Context: The cholesterol side chain cleavage enzyme (CYP11A1) catalyzes the conversion of cholesterol to pregnenolone, the first rate-limiting step of steroidogenesis. CYP11A1 mutations are associated with primary adrenal insufficiency (PAI) as well
Externí odkaz:
https://doaj.org/article/e5cd13ccfccc43d78d39643050862b98
Autor:
Catherine Dodé, Luis Teixeira, Jacqueline Levilliers, Corinne Fouveaut, Philippe Bouchard, Marie-Laure Kottler, James Lespinasse, Anne Lienhardt-Roussie, Michèle Mathieu, Alexandre Moerman, Graeme Morgan, Arnaud Murat, Jean-Edmont Toublanc, Slawomir Wolczynski, Marc Delpech, Christine Petit, Jacques Young, Jean-Pierre Hardelin
Publikováno v:
PLoS Genetics, Vol 2, Iss 10, p e175 (2006)
Kallmann syndrome combines anosmia, related to defective olfactory bulb morphogenesis, and hypogonadism due to gonadotropin-releasing hormone deficiency. Loss-of-function mutations in KAL1 and FGFR1 underlie the X chromosome-linked form and an autoso
Externí odkaz:
https://doaj.org/article/50d8b53524c94d4aa60add58764d427e
Autor:
Odile Richard, Régis Coutant, Agnès Linglart, Valérie Porquet-Bordes, Aurélie Berot, Coralie Hermetet, Sylvie Rossignol, Sabine Baron, Karine Bourdet, Brigitte Mignot, Anne Lienhardt-Roussie, Marc de Kerdanet, Pascal Barat, Sylvie Soskin, Catherine Naud-Saudreau, Jessica Amsellem-Jager, Florence Compain, Yasmine El Allali, Maryse Cartigny-Maciejewski, Justine Bacchetta, Cyril Amouroux, Marie-Alexandrine Champigny, Kanetee Busiah, Hélène Bony-Trifunovic, Anya Rothenbuhler, Jean-Pierre Salles, Nathalie Magontier, Thomas Edouard
Publikováno v:
European Journal of Endocrinology. 184:343-351
Aim To describe the presenting features and molecular genetics of primary hyperparathyroidism (PHPT) in the paediatric population. Methods Retrospective study of 63 children diagnosed with primary PHPT from 1998 to 2018. Results Compared to older chi
Autor:
Florence Roucher-Boulez, Delphine Mallet, Shaheena Parween, Christa E. Flück, Yves Morel, Amit V. Pandey, Anne Lienhardt-Roussie
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism
Context: P450 oxidoreductase (POR) is required for the activities of steroid-metabolizing cytochrome P450 enzymes in the endoplasmic reticulum. POR deficiency (PORD) is a form of congenital adrenal hyperplasia. Objective and Aim: Enzymatic and struct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c11928bedc60dd32a87b719a27eb82d8
http://doc.rero.ch/record/331056/files/JCEM_101_12_4789.pdf
http://doc.rero.ch/record/331056/files/JCEM_101_12_4789.pdf
Autor:
Anne Lienhardt-Roussie, Claire Flot, Agnès Linglart, Justine Bacchetta, Iva Gueorguieva, Caroline Storey, Anya Rothenbuhler, Valérie Porquet-Bordes, Jean-Pierre Salles, Eloise Giabicani, Thomas Edouard
Publikováno v:
Hormone research in paediatrics. 93(5)
Aim: To describe the demographic characteristics, risk factors, and presenting features of children with symptomatic nutritional rickets in France. Methods: This is a retrospective study of 38 children diagnosed with nutritional rickets from 1998 to
Autor:
Yves Le Bouc, Frédéric Brioude, Tony Yuen, Walid Abi Habib, James T. Bennett, Madeleine D. Harbison, Thomas Edouard, Jennifer Salem, Frédérique Tixier, Anne Lienhardt-Roussie, Salah Azzi, Irène Netchine
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2018, 20 (2), pp.250-258. ⟨10.1038/gim.2017.105⟩
Genetics in Medicine, 2018, 20 (2), pp.250-258. ⟨10.1038/gim.2017.105⟩
Genetics in Medicine, Nature Publishing Group, 2018, 20 (2), pp.250-258. ⟨10.1038/gim.2017.105⟩
Genetics in Medicine, 2018, 20 (2), pp.250-258. ⟨10.1038/gim.2017.105⟩
International audience; Purpose: Fetal growth is a complex process involving maternal, placental and fetal factors. The etiology of fetal growth retardation remains unknown in many cases. The aim of this study is to identify novel human mutations and
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:
Angélique Voisin, Philippe Fayemendy, Pierre Jésus, Jean-Claude Desport, Anne Lienhardt-Roussie, Lucile Darthou-Pouchard
Publikováno v:
Nutrition Clinique et Métabolisme. 29:263-266
Resume L’acidurie mevalonique et le syndrome d’hyperimmunoglobulinemie D (HIDS) sont les deux expressions cliniques du deficit en mevalonate kinase. Peu de cas sont decrits dans le monde et l’etat nutritionnel n’a jamais ete precise. Un patie