Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Nicolas Gruchy"'
Autor:
Abdelkader Heddar, Cagri Ogur, Sabrina Da Costa, Inès Braham, Line Billaud-Rist, Necati Findikli, Claire Beneteau, Rachel Reynaud, Khaled Mahmoud, Stéphanie Legrand, Maud Marchand, Isabelle Cedrin-Durnerin, Adèle Cantalloube, Maeliss Peigne, Marion Bretault, Benedicte Dagher-Hayeck, Sandrine Perol, Celine Droumaguet, Sabri Cavkaytar, Carole Nicolas-Bonne, Hanen Elloumi, Mohamed Khrouf, Charlotte Rougier-LeMasle, Melanie Fradin, Elsa Le Boette, Perrine Luigi, Anne-Marie Guerrot, Emmanuelle Ginglinger, Amandine Zampa, Anais Fauconnier, Nathalie Auger, Françoise Paris, Elise Brischoux-Boucher, Christelle Cabrol, Aurore Brun, Laura Guyon, Melanie Berard, Axelle Riviere, Nicolas Gruchy, Sylvie Odent, Brigitte Gilbert-Dussardier, Bertrand Isidor, Juliette Piard, Laetitia Lambert, Samir Hamamah, Anne Marie Guedj, Aude Brac de la Perriere, Hervé Fernandez, Marie-Laure Raffin-Sanson, Michel Polak, Hélène Letur, Sylvie Epelboin, Genevieve Plu-Bureau, Sławomir Wołczyński, Sylvie Hieronimus, Kristiina Aittomaki, Sophie Catteau-Jonard, Micheline Misrahi
Publikováno v:
EBioMedicine
EBioMedicine, 2022, 84, pp.104246. ⟨10.1016/j.ebiom.2022.104246⟩
EBioMedicine, 2022, 84, pp.104246. ⟨10.1016/j.ebiom.2022.104246⟩
Background Primary Ovarian Insufficiency (POI), a public health problem, affects 1-3.7% of women under 40 yield-ing infertility and a shorter lifespan. Most causes are unknown. Recently, genetic causes were identified, mostly in single families. We s
Autor:
Arnaud Molin, Nicolas Gruchy, Sylvie Paulien, Hervé Mittre, Sophie Naudion, Justine Bacchetta, Nicolas Richard, Laurence Faivre, Marion Gérard, Elise Schaefer, Sylvie Odent, Sarah Snanoudj, Marie-Laure Kottler, Bénédicte Demeer, Nadia Coudray, Cindy Colson, Alice Goldenberg
Publikováno v:
Journal of Bone and Mineral Research
Journal of Bone and Mineral Research, American Society for Bone and Mineral Research, 2019, ⟨10.1002/jbmr.3948⟩
Journal of Bone and Mineral Research, American Society for Bone and Mineral Research, 2020, 35 (5), pp.913-919. ⟨10.1002/jbmr.3948⟩
Journal of Bone and Mineral Research, American Society for Bone and Mineral Research, 2019, ⟨10.1002/jbmr.3948⟩
Journal of Bone and Mineral Research, American Society for Bone and Mineral Research, 2020, 35 (5), pp.913-919. ⟨10.1002/jbmr.3948⟩
International audience; Pseudohypoparathyroidism type 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) are two rare autosomal dominant disorders caused by loss-of-function mutations in the imprinted Guanine Nucleotide Binding Protein, Alpha Stimu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df982f6d6a0d3f76074da646d62ba810
https://hal.archives-ouvertes.fr/hal-02434917
https://hal.archives-ouvertes.fr/hal-02434917
Autor:
Ludivine Beaussire, Nathalie Le Meur, Géraldine Joly-Helas, Anne-Claire Brehin, Anne Boland, Gaël Nicolas, Dominique Campion, Jean-François Deleuze, Pascal Chambon, Anne Rovelet-Lecrux, Kévin Cassinari, Mathieu Castelain, Thierry Frebourg, Nasrin Sarafan-Vasseur, Olivier Quenez, Nicolas Gruchy, Pascale Saugier-Veber, Anne-Marie Guerrot, Alice Goldenberg
Publikováno v:
Clinical Chemistry
Clinical Chemistry, American Association for Clinical Chemistry, 2019, 65 (9), pp.1153-1160. ⟨10.1373/clinchem.2019.304246⟩
Clinical Chemistry, 2019, 65 (9), pp.1153-1160. ⟨10.1373/clinchem.2019.304246⟩
Clinical Chemistry, American Association for Clinical Chemistry, 2019, 65 (9), pp.1153-1160. ⟨10.1373/clinchem.2019.304246⟩
Clinical Chemistry, 2019, 65 (9), pp.1153-1160. ⟨10.1373/clinchem.2019.304246⟩
BACKGROUND Rare copy number variations (CNVs) are a major cause of genetic diseases. Simple targeted methods are required for their confirmation and segregation analysis. We developed a simple and universal CNV assay based on digital PCR (dPCR) and u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::026beef772110386c4e3fa402d1fa582
https://hal-normandie-univ.archives-ouvertes.fr/hal-02339190
https://hal-normandie-univ.archives-ouvertes.fr/hal-02339190
Autor:
Nicolas Richard, Arnaud Molin, Andreea Apetrei, Claire Bracquemart, Manon Godin, Gwenaël Nadeau, Antoine Resbeut, Nicolas Gruchy, Gaëlle Rey
Publikováno v:
Bone Reports
Bone Reports, 2021, 14, pp.101073. ⟨10.1016/j.bonr.2021.101073⟩
Bone Reports, Vol 14, Iss, Pp 101073-(2021)
Bone Reports, 2021, 14, pp.101073. ⟨10.1016/j.bonr.2021.101073⟩
Bone Reports, Vol 14, Iss, Pp 101073-(2021)
Introduction Pseudohypoparathyroidism type 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) (Inactivating PTH/PTHrP Signaling Disorders type 2, IPPSD2) are two rare autosomal disorders caused by loss-of-function mutations on either maternal or pa
Autor:
Asma Chebil, Duksha Ramful, Thibaud Jouan, Hanitra Randrianaivo, Norbert F. Ajeawung, Nicolas Gruchy, Yannis Duffourd, Bérénice Doray, Christopher T. Gordon, Francesca Filippini, Christine Bole-Feysot, Philippe M. Campeau, Asma Omarjee, Julien Thevenon, Paul Kuentz, Jean-Luc Alessandri, Patrick Nitschke, Laurence Faivre, Jeanne Amiel, Coralie Dumont, Thi Tuyet Mai Nguyen, Marion Gérard, Myriam Oufadem, Guillaume Benoist, Olivier Alibeu, Marie-Line Jacquemont
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2018, 26 (3), pp.340-349. ⟨10.1038/s41431-017-0087-x⟩
European Journal of Human Genetics, Nature Publishing Group, 2018, 26 (3), pp.340-349. 〈https://www.nature.com/articles/s41431-017-0087-x〉. 〈10.1038/s41431-017-0087-x〉
European Journal of Human Genetics, Nature Publishing Group, 2018, 26 (3), pp.340-349. ⟨10.1038/s41431-017-0087-x⟩
European Journal of Human Genetics, Nature Publishing Group, 2018, 26 (3), pp.340-349. 〈https://www.nature.com/articles/s41431-017-0087-x〉. 〈10.1038/s41431-017-0087-x〉
International audience; Fryns syndrome (FS) is a multiple malformations syndrome with major features of congenital diaphragmatic hernia, pulmonary hypoplasia, craniofacial dysmorphic features, distal digit hypoplasia, and a range of other lower frequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d931cc42fd61c0cd79cc735187fb5658
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01708808
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01708808
Autor:
Pierre-Simon Jouk, Marie-Ange Nguyen Morel, Pascale Guillem, James Lespinasse, Catalina Betancur, Vincent Guinchat, Marion Leboyer, Daniel Moreno-De-Luca, Nathalie Leporrier, Françoise Devillard, Nicolas Gruchy, Anne-Claude Tabet
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, 2010, 152A (9), pp.2346-54. ⟨10.1002/ajmg.a.33601⟩
American Journal of Medical Genetics Part A, Wiley, 2010, 152A (9), pp.2346-54. ⟨10.1002/ajmg.a.33601⟩
American Journal of Medical Genetics Part A, 2010, 152A (9), pp.2346-54. ⟨10.1002/ajmg.a.33601⟩
American Journal of Medical Genetics Part A, Wiley, 2010, 152A (9), pp.2346-54. ⟨10.1002/ajmg.a.33601⟩
International audience; We describe a patient with autism and a paracentric inversion of chromosome 2q14.2q37.3, with a concurrent duplication of the proximal breakpoint at 2q14.1q14.2 and a deletion of the distal breakpoint at 2q37.3. The abnormalit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c08c7d762b3a315e2d5953da588cca50
https://www.hal.inserm.fr/inserm-00520816
https://www.hal.inserm.fr/inserm-00520816