Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Natacha Gaitch"'
Autor:
Marion, Heller, Natacha, Gaitch, Brigitte, Martinez, François, Cartault, Michel, Renouil, Corinne, Theze, Emmanuelle, Girodon, Thierry, Bienvenu
Publikováno v:
In Journal of Cystic Fibrosis May 2015 14(3):305-309
Autor:
Brian Sperelakis‐Beedham, Maureen Lopez, Emmanuelle Bourrat, Natacha Gaitch, Florence Houriez, Brigitte Martinez, Isabelle Fajac, Pierre‐Régis Burgel, Geoffroy Hickman, Marie‐Pierre Audrézet, Delphine Gonde, Faiza Cabet, Mathieu Gerfaud‐Valentin, Raphaele Nove‐Josserand, Caroline Raynal, Adrien Pagin, Marie‐Pierre Reboul, Alix de Becdelièvre, Thierry Bienvenu, Isabelle Callebaut, Emmanuelle Girodon
Publikováno v:
Journal of the European Academy of Dermatology and Venereology. 37
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::10fea32a589ab21ec88d4e647b236e60
https://doi.org/10.1111/jdv.18869
https://doi.org/10.1111/jdv.18869
Autor:
Natacha Gaitch, Jean Philippe Wolf, Emmanuelle Girodon, Nadjia Boucekkine, Thierry Bienvenu, Nabila Attal, Amira Sallem, Loubna Hamza, Amina Oumeziane
Publikováno v:
Andrologia. 52
Macrozoospermia is associated with severe male infertility. To date, the only gene implicated in this phenotype is the Aurora Kinase C gene. We report in this work the genetic screening of AURKC mutations in 34 patients with macrozoospermia among 3,5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a3170f25ce8e5e4d0e9f14ba82bd7ed
https://doi.org/10.1111/and.13868
https://doi.org/10.1111/and.13868
Autor:
Anne Bergougnoux, Thierry Bienvenu, Jean-Marie Jouannic, Natacha Gaitch, Fanny Verneau, C. Raynal, Emmanuelle Girodon
Publikováno v:
Fetal Diagnosis and Therapy
Fetal Diagnosis and Therapy, Karger, 2019, 45 (5), pp.312-316. ⟨10.1159/000489120⟩
Fetal Diagnosis and Therapy, Karger, 2019, 45 (5), pp.312-316. ⟨10.1159/000489120⟩
Background: Cystic fibrosis (CF) can be revealed during fetal life by diverse ultrasound digestive abnormalities (USDA) such as fetal echogenic bowel or fetal intestinal loop dilatation, nonvisualization of the fetal gallbladder (NVFGB) being rarely
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a476adc1f2e1c6cd96c2ca9ebc7ee869
https://hal.umontpellier.fr/hal-02434849
https://hal.umontpellier.fr/hal-02434849
Autor:
Thierry Bienvenu, Isabelle Honoré, Jeanne Chapron, Dominique Hubert, Daniel Dusser, Pierre-Régis Burgel, Emmanuelle Génin, R. Kanaan, Natacha Gaitch, Brigitte Martinez, Marion Viel, Emmanuelle Girodon
Publikováno v:
The Clinical Respiratory Journal. 10:777-783
Background and Aims Pseudomonas aeruginosa (Pa) infection in cystic fibrosis (CF) patients is associated with worse long-term pulmonary disease and shorter survival, and chronic Pa infection (CPA) is associated with reduced lung function, faster rate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dba340f40cd40f2a59d74562783a40ec
https://doi.org/10.1111/crj.12288
https://doi.org/10.1111/crj.12288
Autor:
Thierry Bienvenu, Pierre-Régis Burgel, Natacha Gaitch, Philippe Lévy, Marion Heller, Dominique Hubert, Emmanuelle Girodon, Brigitte Martinez
Publikováno v:
Journal of Human Genetics. 59:206-210
c.224G>A, p.Arg75Gln (R75Q) presumably leads to an amino-acid change from arginine to glutamine in the membrane-spanning domain of the CFTR protein. Initially reported as a benign sequence variation, p.Arg75Gln was shown to be associated with a high
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b89a33669e27a1744eb1b071199c2bbe
https://doi.org/10.1038/jhg.2014.2
https://doi.org/10.1038/jhg.2014.2
Autor:
Emmanuelle Girodon, Christine Gameiro, Dominique Hubert, Daniel Dusser, Isabelle Honoré, R. Kanaan, Thierry Bienvenu, Florence Houriez, Brigitte Martinez, Pierre-Régis Burgel, Natacha Gaitch, Jeanne Chapron
Publikováno v:
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]. 16(4)
Background/objectives Currently, factors that promote the occurrence of pancreatitis episodes in patients affected with cystic fibrosis (CF) and pancreatic sufficiency (PS) are largely unknown. Methods Six genes involved in pancreatitis or in ion tra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e63dc4d8dad21ffb62991685a09265d9
https://pubmed.ncbi.nlm.nih.gov/27086061
https://pubmed.ncbi.nlm.nih.gov/27086061
Autor:
Thierry Bienvenu, Pierre F. Ray, Nathalie Da Silva, Mathilde Jollivet, Aminata Touré, Pierre Tufféry, Baptiste Rode, Denise Escalier, Gérard Gacon, Emmanuel Dulioust, Frédéric Becq, Jean-Philippe Wolf, Caroline Norez, Thassadite Dirami, Natacha Gaitch
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2013, 92 (5), pp.760-6. ⟨10.1016/j.ajhg.2013.03.016⟩
American Journal of Human Genetics, 2013, 92 (5), pp.760-6. ⟨10.1016/j.ajhg.2013.03.016⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2013, 92 (5), pp.760-6. 〈10.1016/j.ajhg.2013.03.016〉
American Journal of Human Genetics, Elsevier (Cell Press), 2013, 92 (5), pp.760-6. ⟨10.1016/j.ajhg.2013.03.016⟩
American Journal of Human Genetics, 2013, 92 (5), pp.760-6. ⟨10.1016/j.ajhg.2013.03.016⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2013, 92 (5), pp.760-6. 〈10.1016/j.ajhg.2013.03.016〉
International audience; The cystic fibrosis transmembrane conductance regulator (CFTR) is present in mature sperm and is required for sperm motility and capacitation. Both these processes are controlled by ions fluxes and are essential for fertilizat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d820b7ba7aaa94b054e9fbee61311f4