Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Véronique Satre"'
Autor:
Zine‐Eddine Kherraf, Marie Christou‐Kent, Thomas Karaouzene, Amir Amiri‐Yekta, Guillaume Martinez, Alexandra S Vargas, Emeline Lambert, Christelle Borel, Béatrice Dorphin, Isabelle Aknin‐Seifer, Michael J Mitchell, Catherine Metzler‐Guillemain, Jessica Escoffier, Serge Nef, Mariane Grepillat, Nicolas Thierry‐Mieg, Véronique Satre, Marc Bailly, Florence Boitrelle, Karin Pernet‐Gallay, Sylviane Hennebicq, Julien Fauré, Serge P Bottari, Charles Coutton, Pierre F Ray, Christophe Arnoult
Publikováno v:
EMBO Molecular Medicine, Vol 9, Iss 8, Pp 1132-1149 (2017)
Abstract Azoospermia, characterized by the absence of spermatozoa in the ejaculate, is a common cause of male infertility with a poorly characterized etiology. Exome sequencing analysis of two azoospermic brothers allowed the identification of a homo
Externí odkaz:
https://doaj.org/article/acfdace776ce4e4b925803c814b43c54
Autor:
Mary R. Sy, Jaynee Chauhan, Katrina Prescott, Aliza Imam, Alison Kraus, Ana Beleza, Lee Salkeld, Saraswati Hosdurga, Michael Parker, Pradeep Vasudevan, Lily Islam, Himanshu Goel, Nicole Bain, Soo‐Mi Park, Shehla Mohammed, Klaus Dieterich, Charles Coutton, Véronique Satre, Gaëlle Vieville, Alan Donaldson, Claire Beneteau, Jamal Ghoumid, Kris Van Den Bogaert, Anneleen Boogaerts, Elise Boudry, Clémence Vanlerberghe, Florence Petit, Laura Bernardini, Barbara Torres, Teresa Mattina, Diana Carli, Giorgia Mandrile, Michele Pinelli, Nicola Brunetti‐Pierri, Katherine Neas, Rachel Beddow, Pernille M. Tørring, Flavio Faletra, Beatrice Spedicati, Paolo Gasparini, Alessandro Mussa, Giovanni Battista Ferrero, Anne Lampe, Wayne Lam, Weimin Bi, Carlos A. Bacino, Akela Kuwahara, Jeffrey O. Bush, Xiaonan Zhao, Pamela N. Luna, Chad A. Shaw, Jill A. Rosenfeld, Daryl A. Scott
Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a life-threatening birth defect that often occurs with other major birth defects (EA/TEF+). Despite advances in genetic testing, a molecular diagnosis can only be made in a minority of EA/TEF+
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dbf2e7cf7e23b99bd24320dbc96276a
https://hdl.handle.net/11368/3032878
https://hdl.handle.net/11368/3032878
Autor:
Quentin Testard, Xavier Vanhoye, Kevin Yauy, Marie-Emmanuelle Naud, Gaelle Vieville, Francis Rousseau, Benjamin Dauriat, Valentine Marquet, Sylvie Bourthoumieu, David Genevieve, Vincent Gatinois, Constance Wells, Marjolaine Willems, Christine Coubes, Lucile Pinson, Rodolphe Dard, Aude Tessier, Bérénice Hervé, François Vialard, Ines Harzallah, Renaud Touraine, Benjamin Cogné, Wallid Deb, Thomas Besnard, OIivier Pichon, Béatrice Laudier, Laurent Mesnard, Alice Doreille, Tiffany Busa, Chantal Missirian, Véronique Satre, Charles Coutton, Tristan Celse, Radu Harbuz, Laure Raymond, Jean-François Taly, Julien Thevenon
BackgroundDespite the availability of whole exome (WES) and genome sequencing (WGS), chromosomal microarray (CMA) remains the first-line diagnostic test in most rare disorders diagnostic workup, looking for copy number variations (CNVs), with a diagn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::802e35e0415f3246533a03d287191c78
https://doi.org/10.1101/2021.10.14.21264732
https://doi.org/10.1101/2021.10.14.21264732
Autor:
Renaud Touraine, Véronique Adouard, Pierre-Simon Jouk, Véronique Satre, Radu Harbuz, Claire Vettier, Claire Barro, Charles Coutton, Francis Ramond, Julien Thevenon, Brice Poreau, Klaus Dieterich
Publikováno v:
American Journal of Medical Genetics Part A. 179:650-654
The AMME syndrome defined as the combination of Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis (AMME) is known to be a contiguous gene syndrome associated with microdeletions in the region Xq22.3q23. Recently, using
Autor:
Ségolène Veau, Gilles Schuler, Aline Papaxanthos, Julien Bessonnat, Marine Poulain, H. Lejeune, Laurent Pasquier, Rosalie Cabry, Raoudha Zouari, Amandine Septier, Flore Mietton, Myriam Chaabouni, Vincent Achard, Zine-Eddine Kherraf, Charles Coutton, Antoine Clergeau, Dominique Lauton, Christophe Sifer, Béatrice Dorphin, Catherine Guillemain, Mahmoud Kharouf, Tristan Celse, Sebti Benbouhadja, Nathalie Sermondade, Selima Fourati Ben Mustapha, Pierre F. Ray, Delphine Martinez, Bernard Foliguet, Julie Beurois, Valérie Mitchell, Guillaume Martinez, Abdelali Zoghmar, Véronique Satre, Ahmed Chargui, Gérard Tachdjian, Cynthia Frapsauce, Chema Triki, Sylviane Hennebicq, Jacques Puechberty, Caroline Cazin, Christophe Arnoult, Nicolas Thierry-Mieg, Lionel Mery
Publikováno v:
Human Genetics
Human Genetics, Springer Verlag, 2021, Molecular Genetics of Male Infertility, 140 (1), pp.43-57. ⟨10.1007/s00439-020-02229-0⟩
Human Genetics, Springer Verlag, In press, ⟨10.1007/s00439-020-02229-0⟩
Human Genetics, 2021, Molecular Genetics of Male Infertility, 140 (1), pp.43-57. ⟨10.1007/s00439-020-02229-0⟩
Human Genetics, Springer Verlag, 2021, Molecular Genetics of Male Infertility, 140 (1), pp.43-57. ⟨10.1007/s00439-020-02229-0⟩
Human Genetics, Springer Verlag, In press, ⟨10.1007/s00439-020-02229-0⟩
Human Genetics, 2021, Molecular Genetics of Male Infertility, 140 (1), pp.43-57. ⟨10.1007/s00439-020-02229-0⟩
International audience; Globozoospermia is a rare phenotype of primary male infertility inducing the production of round-headed spermatozoa without acrosome. Anomalies of DPY19L2 account for 50-70% of all cases and the entire deletion of the gene is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f529143440a28307c54a227d5849354
https://hal.archives-ouvertes.fr/hal-03025179
https://hal.archives-ouvertes.fr/hal-03025179
Autor:
Guillaume, Martinez, Julie, Beurois, Denis, Dacheux, Caroline, Cazin, Marie, Bidart, Zine-Eddine, Kherraf, Derrick R, Robinson, Véronique, Satre, Gerald, Le Gac, Chandran, Ka, Isabelle, Gourlaouen, Yann, Fichou, Graciane, Petre, Emmanuel, Dulioust, Raoudha, Zouari, Nicolas, Thierry-Mieg, Aminata, Touré, Christophe, Arnoult, Mélanie, Bonhivers, Pierre, Ray, Charles, Coutton
Publikováno v:
Journal of medical genetics. 57(10)
Multiple morphological abnormalities of the flagella (MMAF) consistently lead to male infertility due to a reduced or absent sperm motility defined as asthenozoospermia. Despite numerous genes recently described to be recurrently associated with MMAF
Autor:
Julie Beurois, Marie Bidart, Véronique Satre, Aminata Touré, Nicolas Thierry-Mieg, Graciane Petre, Amir Amiri-Yekta, Pierre F. Ray, Sophie Brouillet, Zine-Eddine Kherraf, Charles Coutton, Guillaume Martinez, Caroline Cazin, Christophe Arnoult
Publikováno v:
Human reproduction (Oxford, England). 34(10)
The use of high-throughput sequencing techniques has allowed the identification of numerous mutations in genes responsible for severe astheno-teratozoospermia due to multiple morphological abnormalities of the sperm flagella (MMAF). However, more tha
Autor:
Thomas Karaouzène, Seyedeh Hanieh Hosseini, Nicolas Thierry-Mieg, Emmanuel Dulioust, Laurence Stouvenel, Pierre F. Ray, Abbas Daneshipour, Aminata Touré, Frederick N. Dong, Véronique Satre, Mélanie Bonhivers, Patrick Lorès, Amir Amiri-Yekta, Haiqing Zhao, Christophe Arnoult, Julie Tek, Antoine Saut, Hamid Gourabi, Guillaume Martinez, Sophie Brouillet, Charles Coutton
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (4), pp.636-648. ⟨10.1016/j.ajhg.2018.03.007⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (4), pp.636-648. ⟨10.1016/j.ajhg.2018.03.007⟩
The multiple morphological abnormalities of the flagella (MMAF) phenotype is among the most severe forms of sperm defects responsible for male infertility. The phenotype is characterized by the presence in the ejaculate of immotile spermatozoa with s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::febb9c33ed17186e55f0459638c7d614
https://hal.archives-ouvertes.fr/hal-01877985
https://hal.archives-ouvertes.fr/hal-01877985
Autor:
Mahmoud Kharouf, Guillaume Martinez, Jessica Escoffier, Denis Dacheux, Alain Schmitt, Raoudha Zouari, Zine-Eddine Kherraf, Pierre-Simon Jouk, Mélanie Bonhivers, Lazhar Halouani, Julien Fauré, Anne Boland, Elma El Khouri, Valérie Mitchell, Nicolas Thierry-Mieg, Emmanuel Dulioust, Serge P. Bottari, Serge Nef, Karin Pernet-Gallay, Jean-François Deleuze, Amir Amiri-Yekta, Habib Latrous, Patrick Lorès, Hamid Gourabi, Pauline Le Tanno, Nicolas Landrein, Thomas Karaouzène, Selima Fourati Ben Mustapha, Aminata Touré, Alexandra Vargas, Derrick R. Robinson, Véronique Satre, Ouafi Marrakchi, Béatrice Conne, Serge Crouzy, Seyedeh Hanieh Hosseini, Mounir Makni, Laurence Stouvenel, Clémentine Wambergue-Legrand, Abbas Daneshipour, Charles Coutton, Pierre F. Ray, Sylviane Hennebicq, Christophe Arnoult, Jean-Philippe Wolf
Publikováno v:
Nature Communications
Nature Communications, 2018, 9, pp.686. ⟨10.1038/s41467-017-02792-7⟩
Nature Communications, Vol 9, Iss 1, Pp 1-18 (2018)
Nature Communications, Nature Publishing Group, 2018, 9, pp.686. ⟨10.1038/s41467-017-02792-7⟩
Nature Communications, Vol. 9, No 1 (2018) P. 686
Nature Communications, 2018, 9, pp.686. ⟨10.1038/s41467-017-02792-7⟩
Nature Communications, Vol 9, Iss 1, Pp 1-18 (2018)
Nature Communications, Nature Publishing Group, 2018, 9, pp.686. ⟨10.1038/s41467-017-02792-7⟩
Nature Communications, Vol. 9, No 1 (2018) P. 686
Spermatogenesis defects concern millions of men worldwide, yet the vast majority remains undiagnosed. Here we report men with primary infertility due to multiple morphological abnormalities of the sperm flagella with severe disorganization of the spe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::131014d2865f04abad4e856b758bd5d6
https://hal.science/hal-01724640
https://hal.science/hal-01724640
Autor:
Mélanie Bonhivers, Nicolas Thierry-Mieg, Amir Amiri-Yekta, Thomas Karaouzène, Raoudha Zouari, Marie Bidart, Charles Coutton, Véronique Satre, Mahmoud Kharouf, Aminata Touré, Pierre F. Ray, Karin Pernet-Gallay, Guillaume Martinez, Jean-Pascal Hograindleur, Antoine Saut, Denis Dacheux-Deschamps, Anne Bertrand, Zine-Eddine Kherraf, Christophe Arnoult, Selima Fourati Ben Mustapha
Publikováno v:
Human Reproduction
Human Reproduction, Oxford University Press (OUP), 2018, 33 (10), pp.1973-1984. ⟨10.1093/humrep/dey264⟩
Human Reproduction, Oxford University Press (OUP), 2018, 33 (10), pp.1973-1984. ⟨10.1093/humrep/dey264⟩
Study question Can whole-exome sequencing (WES) of infertile patients identify new genes responsible for multiple morphological abnormalities of the sperm flagella (MMAF)? Summary answer WES analysis of 78 infertile men with a MMAF phenotype permitte