Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Catherine Faucon"'
Autor:
Mathieu Bottier, Aline Tamalet, Jean-François Papon, Annick Clement, Guy Montantin, Marie Legendre, Serge Amselem, Catherine Faucon, André Coste, Nathalie Collot, Florence Dastot, Bruno Copin, Sylvain Blanchon, Marcel Filoche, Estelle Escudier, Bruno Louis
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2020, 57 (4), pp.237-244. ⟨10.1136/jmedgenet-2019-106424⟩
Journal of Medical Genetics, 2020, 57 (4), pp.237-244. ⟨10.1136/jmedgenet-2019-106424⟩
Journal of Medical Genetics, BMJ Publishing Group, 2020, 57 (4), pp.237-244. ⟨10.1136/jmedgenet-2019-106424⟩
Journal of Medical Genetics, 2020, 57 (4), pp.237-244. ⟨10.1136/jmedgenet-2019-106424⟩
BackgroundPrimary ciliary dyskinesia (PCD) is a rare genetic disorder resulting in abnormal ciliary motility/structure, extremely heterogeneous at genetic and ultrastructural levels. We aimed, in light of extensive genotyping, to identify specific an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1fa9d3350bf76e6191e94a92c1b9ce7
https://hal.archives-ouvertes.fr/hal-03093190
https://hal.archives-ouvertes.fr/hal-03093190
Autor:
Lucie Thomas, Khaled Bouhouche, Marjorie Whitfield, Guillaume Thouvenin, Andre Coste, Bruno Louis, Claire Szymanski, Emilie Bequignon, Jean-François Papon, Manon Castelli, Michel Lemullois, Xavier Dhalluin, Valérie Drouin-Garraud, Guy Montantin, Sylvie Tissier, Philippe Duquesnoy, Bruno Copin, Florence Dastot, Sandrine Couvet, Anne-Laure Barbotin, Catherine Faucon, Isabelle Honore, Bernard Maitre, Nicole Beydon, Aline Tamalet, Nathalie Rives, France Koll, Estelle Escudier, Anne-Marie Tassin, Aminata Touré, Valérie Mitchell, Serge Amselem, Marie Legendre
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106 (2), pp.153-169. ⟨10.1016/j.ajhg.2019.12.010⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2020, ⟨10.1016/j.ajhg.2019.12.010⟩
Am J Hum Genet
American Journal of Human Genetics, 2020, 106 (2), pp.153-169. ⟨10.1016/j.ajhg.2019.12.010⟩
HAL
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106 (2), pp.153-169. ⟨10.1016/j.ajhg.2019.12.010⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2020, ⟨10.1016/j.ajhg.2019.12.010⟩
Am J Hum Genet
American Journal of Human Genetics, 2020, 106 (2), pp.153-169. ⟨10.1016/j.ajhg.2019.12.010⟩
HAL
International audience; Cilia and flagella are evolutionarily conserved organelles whose motility relies on the outer and inner dynein arm complexes (ODAs and IDAs). Defects in ODAs and IDAs result in primary ciliary dyskinesia (PCD), a disease chara
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb30b5079ed09552fcbc9d234484c57d
https://hal.archives-ouvertes.fr/hal-02456263/file/S0002929719304744.pdf
https://hal.archives-ouvertes.fr/hal-02456263/file/S0002929719304744.pdf
Autor:
Guy Montantin, Jean-Pierre Siffroi, Serge Amselem, Sylvie Tissier, Sandra Chantot, Laurence Stouvenel, Valérie Mitchell, Philippe Duquesnoy, Anne Laure Barbotin, Catherine Faucon, Jean-François Papon, E. Bequignon, Estelle Escudier, Alain Schmitt, Lucie Thomas, Anne Loyens, Aminata Touré, Bruno Copin, Marie Legendre, Marjorie Whitfield, Florence Dastot
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 105 (1), pp.198-212. ⟨10.1016/j.ajhg.2019.04.015⟩
American Journal of Human Genetics, 2019, 105 (1), pp.198-212. ⟨10.1016/j.ajhg.2019.04.015⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 105 (1), pp.198-212. ⟨10.1016/j.ajhg.2019.04.015⟩
American Journal of Human Genetics, 2019, 105 (1), pp.198-212. ⟨10.1016/j.ajhg.2019.04.015⟩
International audience; Motile cilia and sperm flagella share an evolutionarily conserved axonemal structure. Their structural and/or functional defects are associated with primary ciliary dyskinesia (PCD), a genetic disease characterized by chronic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ee5eb024071362f0c06cb9f06a9ce92
https://europepmc.org/articles/PMC6612517/
https://europepmc.org/articles/PMC6612517/
Autor:
André Coste, Catherine Faucon, Serge Amselem, Bruno Copin, Sylvie Tissier, Estelle Escudier, Sylvain Blanchon, Nathalie Collot, Emilie Bequignon, Philippe Duquesnoy, Ludovic Jeanson, Patrick Lorès, Lucie Thomas, Li Yuan, Bruno Crestani, Aminata Touré, Jean Philippe Wolf, Elma El Khouri, Benoit Vallette, Marie Legendre, Guy Montantin, Gérard Gacon, Florence Dastot-Le Moal, Emmanuel Dulioust, Catherine Patrat, Jean Francois Papon
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, 2016, 99 (2), pp.489-500. ⟨10.1016/j.ajhg.2016.06.022⟩
American Journal of Human Genetics, 2016, 99 (2), pp.489-500. ⟨10.1016/j.ajhg.2016.06.022⟩
International audience; Primary ciliary dyskinesia (PCD) is an autosomal-recessive disease due to functional or ultra-structural defects of motile cilia. Affected individuals display recurrent respiratory-tract infections; most males are infertile as
Autor:
Florence Dastot, Catherine Faucon, André Coste, S. Tissier, Mathieu Bottier, Serge Amselem, J.-F. Papon, Bruno Copin, Annick Clement, Marie Legendre, Guy Montantin, Sylvain Blanchon, Aline Tamalet, Estelle Escudier, Nathalie Collot, Bruno Louis
Publikováno v:
Revue des Maladies Respiratoires. 34:A34
Introduction Les dyskinesies ciliaires primitives (DCP) sont un groupe de maladies genetiques rares responsable d’une anomalie du mouvement des cils respiratoires. Le diagnostic est classiquement confirme grâce a l’identification d’une anomali