Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Sylvie Tissier"'
Autor:
Imed Mabrouk, Nawal Al-Harthi, Rahma Mani, Guy Montantin, Sylvie Tissier, Rihab Lagha, Fethi Ben Abdallah, Mohamad M. Hassan, Majid Alhomrani, Ahmed Gaber, Walaa F. Alsanie, Hanadi Ouali, Fatma A. Jambi, Talal M. Almaghamsi, Nawal A. Alqarni, Nawaf A. Alfarsi, Khadija Kashgari, Hasna J. Al-Zahrani, Zamel A. Al-Shamary, Abdullah Al-Harbi, Serge Amselem, Estelle Escudier, Marie Legendre
Publikováno v:
Journal of Human Genetics. 67:381-386
Primary ciliary dyskinesia (PCD) is a clinically and genetically heterogeneous ciliopathy. Dysfunction of motile respiratory and nodal cilia results in sinopulmonary symptoms associated with laterality defects (LD) found in half of the patients. The
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:
Serge Amselem, Alice De Ligniville, Dominique Valeyre, Nadia Nathan, Bruno Copin, Annick Clement, Nathalie Kuziner, Thierry Chinet, Valérie Nau, Florence Dastot-Le Moal, Raphael Borie, Clément Picard, Lamisse Mansour Hendili, Violaine Giraud, Hilario Nunes, Laurent Gouya, Aurore Coulomb, Louis-Jean Couderc, Bruno Crestani, Martine Reynaud Gaubert, Sylvie Tissier, Maud Simansour, Marie Legendre, Philippe Duquesnoy, Caroline Kannengiesser, Laurie Galeron
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, 2016, 25 (8), pp.1457-1467. ⟨10.1093/hmg/ddw014⟩
Human Molecular Genetics, Oxford University Press (OUP), 2016, 25 (8), pp.1457-1467. ⟨10.1093/hmg/ddw014⟩
Human Molecular Genetics, 2016, 25 (8), pp.1457-1467. ⟨10.1093/hmg/ddw014⟩
Human Molecular Genetics, Oxford University Press (OUP), 2016, 25 (8), pp.1457-1467. ⟨10.1093/hmg/ddw014⟩
Background: Idiopathic interstitial pneumonia (IIP) comprise a heterogeneous group of rare lung parenchyma disorders with high morbidity and mortality. They have been associated with an increased frequency of lung cancer. A genetic cause is identifie
Autor:
André Coste, Aline Tamalet, Esther Kott, Bruno Copin, Jacques Cadranel, Philippe Duquesnoy, Harriet Corvol, Anissa Souayah, Ludovic Jeanson, Jean Francois Papon, Marie Legendre, Jacques de Blic, Guy Montantin, Bruno Louis, Estelle Escudier, Nathalie Collot, Annick Clement, Julie Désir, Serge Amselem, Sylvie Tissier, Florence Dastot-Le Moal
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, 2015, 97 (1), pp.153-162. ⟨10.1016/j.ajhg.2015.05.004⟩
American Journal of Human Genetics, 2015, 97 (1), pp.153-162. ⟨10.1016/j.ajhg.2015.05.004⟩
International audience; Primary ciliary dyskinesia (PCD) is a rare autosomal-recessive condition resulting from structural and/or functional defects of the axoneme in motile cilia and sperm flagella. The great majority of mutations identified so far
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::127dda28f345843946ee47e3f4668c88
https://hal.archives-ouvertes.fr/hal-03829114
https://hal.archives-ouvertes.fr/hal-03829114