Zobrazeno 1 - 10
of 115
pro vyhledávání: '"Véronique Satre"'
Autor:
Denis Dacheux, Guillaume Martinez, Christine E Broster Reix, Julie Beurois, Patrick Lores, Magamba Tounkara, Jean-William Dupuy, Derrick Roy Robinson, Corinne Loeuillet, Emeline Lambert, Zeina Wehbe, Jessica Escoffier, Amir Amiri-Yekta, Abbas Daneshipour, Seyedeh-Hanieh Hosseini, Raoudha Zouari, Selima Fourati Ben Mustapha, Lazhar Halouani, Xiaohui Jiang, Ying Shen, Chunyu Liu, Nicolas Thierry-Mieg, Amandine Septier, Marie Bidart, Véronique Satre, Caroline Cazin, Zine Eddine Kherraf, Christophe Arnoult, Pierre F Ray, Aminata Toure, Mélanie Bonhivers, Charles Coutton
Publikováno v:
eLife, Vol 12 (2023)
Male infertility is common and complex, presenting a wide range of heterogeneous phenotypes. Although about 50% of cases are estimated to have a genetic component, the underlying cause often remains undetermined. Here, from whole-exome sequencing on
Externí odkaz:
https://doaj.org/article/2b37a6175cab4e93a36110639ca35769
Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry
Autor:
Edgar Del Llano, Aurore Perrin, Frédéric Morel, Françoise Devillard, Radu Harbuz, Véronique Satre, Florence Amblard, Marie Bidart, Sylviane Hennebicq, Sophie Brouillet, Pierre F. Ray, Charles Coutton, Guillaume Martinez
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 4, p 3664 (2023)
Reciprocal translocation (RT) carriers produce a proportion of unbalanced gametes that expose them to a higher risk of infertility, recurrent miscarriage, and fetus or children with congenital anomalies and developmental delay. To reduce these risks,
Externí odkaz:
https://doaj.org/article/6a67d77a2d174367842ea06ded6d7bcd
Autor:
Guillaume Martinez, Anne-Laure Barbotin, Caroline Cazin, Zeina Wehbe, Angèle Boursier, Amir Amiri-Yekta, Abbas Daneshipour, Seyedeh-Hanieh Hosseini, Nathalie Rives, Aurélie Feraille, Nicolas Thierry-Mieg, Marie Bidart, Véronique Satre, Christophe Arnoult, Pierre F. Ray, Zine-Eddine Kherraf, Charles Coutton
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 3, p 2559 (2023)
Male infertility is a common and complex disease and presents as a wide range of heterogeneous phenotypes. Multiple morphological abnormalities of the sperm flagellum (MMAF) phenotype is a peculiar condition of extreme morphological sperm defects cha
Externí odkaz:
https://doaj.org/article/9d1caf3149cb4a28a25a6f4438afa3db
Autor:
Anna Lamotte, Guillaume Martinez, Françoise Devillard, Jean-Pascal Hograindleur, Véronique Satre, Charles Coutton, Radu Harbuz, Florence Amblard, James Lespinasse, Mehdi Benchaib, Julien Bessonnat, Sophie Brouillet, Sylviane Hennebicq
Publikováno v:
Basic and Clinical Andrology, Vol 28, Iss 1, Pp 1-11 (2018)
Résumé Contexte Le mode de ségrégation chromosomique le plus fréquemment observé chez les patients porteurs de translocation robertsonienne est. un mode équilibré. Les données semblent varier peu selon la translocation analysée. La relative
Externí odkaz:
https://doaj.org/article/f539ff76fb6c4492ac5dedf16e72b95f
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human
Autor:
Charles Coutton, Alexandra S. Vargas, Amir Amiri-Yekta, Zine-Eddine Kherraf, Selima Fourati Ben Mustapha, Pauline Le Tanno, Clémentine Wambergue-Legrand, Thomas Karaouzène, Guillaume Martinez, Serge Crouzy, Abbas Daneshipour, Seyedeh Hanieh Hosseini, Valérie Mitchell, Lazhar Halouani, Ouafi Marrakchi, Mounir Makni, Habib Latrous, Mahmoud Kharouf, Jean-François Deleuze, Anne Boland, Sylviane Hennebicq, Véronique Satre, Pierre-Simon Jouk, Nicolas Thierry-Mieg, Beatrice Conne, Denis Dacheux, Nicolas Landrein, Alain Schmitt, Laurence Stouvenel, Patrick Lorès, Elma El Khouri, Serge P. Bottari, Julien Fauré, Jean-Philippe Wolf, Karin Pernet-Gallay, Jessica Escoffier, Hamid Gourabi, Derrick R. Robinson, Serge Nef, Emmanuel Dulioust, Raoudha Zouari, Mélanie Bonhivers, Aminata Touré, Christophe Arnoult, Pierre F. Ray
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-18 (2018)
Asthenozoospermia is a major cause of male infertility, and multiple morphological abnormalities of the flagella (MMAF) is a particularly severe form. Here, using whole-exome sequencing of 78 MMAF patients, the authors identify mutations in two WDR p
Externí odkaz:
https://doaj.org/article/03b883f351d94cb6999191bf43221e62
Autor:
Charlotte Guyot, Marlène Gandula, Wendy Noordermeer, Céline François-Brazier, Rosemary Moigno, Julien Bessonnat, Sophie Brouillet, Magali Dhellemmes, Marie Bidart, Christophe Arnoult, Véronique Satre, Charles Coutton, Guillaume Martinez
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 19, p 10383 (2021)
Numerical chromosomal aberrations in sperm are considered to be a major factor in infertility, early pregnancy loss and syndromes with developmental and cognitive disabilities in mammals, including primates. Despite numerous studies in human and farm
Externí odkaz:
https://doaj.org/article/09ff6ab07bf6403289b293a054442033
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:
Pascale Kleinfinger, Laurence Lohmann, Armelle Luscan, Detlef Trost, Laurent Bidat, Véronique Debarge, Vanina Castaigne, Marie-Victoire Senat, Marie-Pierre Brechard, Lucie Guilbaud, Gwenaël Le Guyader, Véronique Satre, Hélène Laurichesse Delmas, Hakima Lallaoui, Marie-Christine Manca-Pellissier, Aicha Boughalem, Mylene Valduga, Farah Hodeib, Alexandra Benachi, Jean Marc Costa
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 8, p 2466 (2020)
Atypical fetal chromosomal anomalies are more frequent than previously recognized and can affect fetal development. We propose a screening strategy for a genome-wide non-invasive prenatal test (NIPT) to detect these atypical chromosomal anomalies (AC
Externí odkaz:
https://doaj.org/article/b5f35dddacca4ab0af649b5b2f2d5d06
Autor:
Guillaume Jouret, Matthieu Egloff, Emilie Landais, Olivier Tassy, Fabienne Giuliano, Houda Karmous‐Benailly, Charles Coutton, Véronique Satre, Françoise Devillard, Klaus Dieterich, Gaëlle Vieville, Paul Kuentz, Cédric le Caignec, Claire Beneteau, Bertrand Isidor, Mathilde Nizon, Patrick Callier, Valentine Marquet, Eric Bieth, Jonathan Lévy, Anne‐Claude Tabet, Stanislas Lyonnet, Geneviève Baujat, Marlène Rio, François Cartault, Sophie Scheidecker, Aurélie Gouronc, Audrey Schalk, Clémence Jacquin, Marta Spodenkiewicz, Chloé Angélini, Perrine Pennamen, Caroline Rooryck, Martine Doco‐Fenzy, Céline Poirsier
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 191(1)
A small but growing body of scientific literature is emerging about clinical findings in patients with 19p13.3 microdeletion or duplication. Recently, a proximal 19p13.3 microduplication syndrome was described, associated with growth delay, microceph
Autor:
Tristan Celse, Angèle Tingaud-Sequeira, Klaus Dieterich, Geraldine Siegfried, Cédric Lecaignec, Laurence Bouneau, Madeleine Fannemel, Gaelle Salaun, Fanny Laffargue, Guillaume Martinez, Véronique Satre, Gaelle Vieville, Marie Bidart, Cecilia Soussi Zander, Ann-Charlotte Turesson, Miranda Splitt, Dorothee Reboul, Jean Chiesa, Philippe Khau Van Kien, Manon Godin, Nicolas Gruchy, Himanshu Goel, Elizabeth Palmer, Kalliope Demetriou, Carolyn Shalhoub, Caroline Rooryck, Charles Coutton
Publikováno v:
Journal of medical genetics.
BackgroundOculo-auriculo-vertebral spectrum (OAVS) is the second most common cause of head and neck malformations in children after orofacial clefts. OAVS is clinically heterogeneous and characterised by a broad range of clinical features including e