Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Véronique Satre"'
Autor:
Yunxia Cao, Véronique Satre, Chunyu Liu, Charles Coutton, Qunshan Shen, Marjorie Whitfield, Kuokuo Li, Julie Beurois, Hongbin Liu, Xiaojin He, Dan Liang, Pierre F. Ray, Guillaume Martinez, Marie Bidart, Tristan Celse, Nicolas Thierry-Mieg, Huan Wu, Feng Zhang, Zine-Eddine Kherraf, Fangbiao Tao, Caroline Cazin, Christophe Arnoult, Mingrong Lv, Bing Song, Amir Amiri-Yekta, Aminata Touré
Publikováno v:
Human Genetics
Human Genetics, Springer Verlag, 2021, 140 (9), pp.1367-1377. ⟨10.1007/s00439-021-02313-z⟩
Human Genetics, 2021, 140 (9), pp.1367-1377. ⟨10.1007/s00439-021-02313-z⟩
Human Genetics, Springer Verlag, 2021, 140 (9), pp.1367-1377. ⟨10.1007/s00439-021-02313-z⟩
Human Genetics, 2021, 140 (9), pp.1367-1377. ⟨10.1007/s00439-021-02313-z⟩
International audience; Spermatozoa are polarized cells with a head and a flagellum joined together by the connecting piece. Flagellum integrity is critical for normal sperm function, and flagellum defects consistently lead to male infertility. Multi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0056c77d0a1bd6fcea6d737f3474c0fd
https://hal.archives-ouvertes.fr/hal-03365264
https://hal.archives-ouvertes.fr/hal-03365264
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:
Marie-Victoire Senat, Lucie Guilbaud, Farah Hodeib, Aïcha Boughalem, Jean Marc Costa, Pascale Kleinfinger, Alexandra Benachi, Armelle Luscan, Marie-Christine Manca-Pellissier, Hakima Lallaoui, Laurent Bidat, V. Debarge, Gwenaël Le Guyader, Hélène Laurichesse Delmas, Véronique Satre, Vanina Castaigne, Laurence Lohmann, Detlef Trost, Mylène Valduga, Marie-Pierre Brechard
Publikováno v:
Journal of Clinical Medicine
Volume 9
Issue 8
Journal of Clinical Medicine, MDPI, 2020, 9 (8), pp.2466. ⟨10.3390/jcm9082466⟩
Journal of Clinical Medicine, 2020, 9 (8), pp.2466. ⟨10.3390/jcm9082466⟩
Journal of Clinical Medicine, Vol 9, Iss 2466, p 2466 (2020)
Volume 9
Issue 8
Journal of Clinical Medicine, MDPI, 2020, 9 (8), pp.2466. ⟨10.3390/jcm9082466⟩
Journal of Clinical Medicine, 2020, 9 (8), pp.2466. ⟨10.3390/jcm9082466⟩
Journal of Clinical Medicine, Vol 9, Iss 2466, 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
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:
Séverine Drunat, Frédérique Amsellem, Dominique Martin, Laurence Faivre, Sandra Chantot-Bastaraud, Bertrand Isidor, James Lespinasse, Sandrine Passemard, Jean Chiesa, Roberto Toro, Olivier Pichon, Françoise Devillard, Céline Dupont, Damien Haye, Julien Buratti, Hubert Journel, Sandra Whalen, Marie Ducloy, Cédric Le Caignec, Thomas Rolland, Alexandre Mathieu, Jean-Michel Dupont, Marie-Laure Vuillaume, Annick Toutain, Alain Verloes, Delphine Héron, Didier Lacombe, Jonathan M. Levy, Nicole Philip, Damien Sanlaville, Laurence Perrin, Anne-Claude Tabet, Laetitia Gouas, Caroline Rooryck, Mélanie Fradin, Richard Delorme, Philippe Vago, Christèle Dubourg, Eva Pipiras, Klaus Dieterich, Vincent Gatinois, Claire Beneteau, Jacques Puechberty, Thomas Bourgeron, Véronique Satre, Aurélia Jacquette, Lucile Pinson, Boris Keren, Albert David, Brigitte Benzacken, Anne-Laure Mosca-Boidron, Cyril Mignot, Charles Coutton, Patrick Edery, Chantal Missirian, Chloé Quélin, Alexandra Afenjar, Yline Capri, Stephan Kemeny, Abdelamdjid Benmansour, Isabelle Marey
Phelan-McDermid syndrome (PMS) is characterized by a variety of clinical symptoms with heterogeneous degrees of severity, including intellectual disability, speech impairment, and autism spectrum disorders (ASD). It results from a deletion of the 22q
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7580b45171c56f7e1f74b66ffe0efaea
https://doi.org/10.1101/117978
https://doi.org/10.1101/117978
Autor:
Catherine Poirot, François Vialard, Agnès Guichet, Jean Pierre Soulie, Florence Lestrade, Pierre-Simon Jouk, Christophe Arnoult, Joël Lunardi, Nathalie Rives, Pascale May-Panloup, Sylviane Hennebicq, Véronique Satre, Charles Coutton, Chema Triki, J. Rollet, Raoudha Zouari, Béatrice Dorphin, Ghaya Merdassi, Pierre F. Ray, Brigitte Benzacken, Farid Abada, Michael G. B. Blum, Isabelle Koscinski, Valérie Mitchell, Laeticia Hesters, Mariem Ben Khelifa, Radu Harbuz, Leila Keskes, Stéphane Viville
Publikováno v:
Human Reproduction
Human Reproduction, Oxford University Press (OUP), 2012, 27 (11), pp.3337-46. ⟨10.1093/humrep/des296⟩
Human Reproduction, 2012, 27 (11), pp.3337-46. ⟨10.1093/humrep/des296⟩
Human Reproduction, Oxford University Press (OUP), 2012, 27 (11), pp.3337-46. ⟨10.1093/humrep/des296⟩
Human Reproduction, 2012, 27 (11), pp.3337-46. ⟨10.1093/humrep/des296⟩
International audience; STUDY QUESTION: Can we identify new sequence variants in the aurora kinase C gene (AURKC) of patients with macrozoospermia and establish a genotype-phenotype correlation? SUMMARY ANSWER: We identified a new non-sense mutation,
Autor:
Anne Blanchard, Joël Lunardi, Haifa Hichri, Rémi Salomon, Michel Remesy, Rosa Vargas Poussou, Geneviève Baujat, Nicole Monnier, Charles Coutton, Bruno Ranchin, Véronique Satre, Olivier Dorseuil, John Rendu, François Nobili
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2011, 32 (4), pp.379. ⟨10.1002/humu.21391⟩
Human Mutation, Wiley, 2011, 32 (4), pp.379. 〈10.1002/humu.21391〉
Human Mutation, Wiley, 2011, 32 (4), pp.379-88. ⟨10.1002/humu.21391⟩
Human Mutation, 2011, 32 (4), pp.379-88. ⟨10.1002/humu.21391⟩
Human Mutation; Vol 32
Human Mutation, Wiley, 2011, 32 (4), pp.379. ⟨10.1002/humu.21391⟩
Human Mutation, Wiley, 2011, 32 (4), pp.379. 〈10.1002/humu.21391〉
Human Mutation, Wiley, 2011, 32 (4), pp.379-88. ⟨10.1002/humu.21391⟩
Human Mutation, 2011, 32 (4), pp.379-88. ⟨10.1002/humu.21391⟩
Human Mutation; Vol 32
International audience; Mutations of OCRL1 are associated with both the oculocerebrorenal syndrome Lowe, a multi-systemic and Dent-2 disease, a renal tubulopathy. We have identified a mutation in 130 Lowe syndrome families and 6 affected by Dent-2 di
Autor:
Marrakchi Ouafi, Isabelle Koscinski, Ghaya Merdassi, B. Sèle, Fethi Zhioua, François Vialard, Stéphane Viville, Raoudha Zouari, Thérèse Schweitzer, Mariem Ben Khelifa, Radu Harbuz, Mounir Makni, Lazhar Halouani, Charles Coutton, Christophe Arnoult, Nathalie Sermondade, Pierre-Simon Jouk, Amel Zhioua, Virginie Pierre, Véronique Satre, Mahmoud Kharouf, Jessica Escoffier, Chema Triki, Yorgos Nikas, Pierre F. Ray, Habib Latrous, Sylviane Hennebicq, Joël Lunardi, Farid Abada
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2011, 88 (3), pp.351-61. ⟨10.1016/j.ajhg.2011.02.007⟩
American Journal of Human Genetics, 2011, 88 (3), pp.351-61. ⟨10.1016/j.ajhg.2011.02.007⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2011, 88 (3), pp.351-61. ⟨10.1016/j.ajhg.2011.02.007⟩
American Journal of Human Genetics, 2011, 88 (3), pp.351-61. ⟨10.1016/j.ajhg.2011.02.007⟩
International audience; An increasing number of couples require medical assistance to achieve a pregnancy, and more than 2% of the births in Western countries now result from assisted reproductive technologies. To identify genetic variants responsibl
Autor:
Charles Coutton, P. S. Jouk, Véronique Satre, Brice Poreau, Françoise Devillard, C. Durand, C. Rozel, Sylvie Odent, Gaëlle Vieville, Florence Amblard
Publikováno v:
Molecular Syndromology
Molecular Syndromology, 2014, 5 (1), pp.25--31. ⟨10.1159/000355391⟩
Molecular Syndromology, Karger, 2014, 5 (1), pp.25--31. ⟨10.1159/000355391⟩
Molecular Syndromology, 2014, 5 (1), pp.25--31. ⟨10.1159/000355391⟩
Molecular Syndromology, Karger, 2014, 5 (1), pp.25--31. ⟨10.1159/000355391⟩
Holoprosencephaly (HPE) is the most common forebrain defect in humans. It results from incomplete midline cleavage of the prosencephalon and can be caused by environmental and genetic factors. HPE is usually described as a continuum of brain malforma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dd371639ea0df67983637566019461c
https://hal.science/hal-01064850
https://hal.science/hal-01064850
Autor:
Charles Coutton, Nicolas Thierry-Mieg, Thomas Karaouzène, Véronique Satre, Pierre F. Ray, Farid Abada, Christophe Arnoult, Damien Sanlaville, Pierre-Simon Jouk, Joël Lunardi
Publikováno v:
PLoS Genetics
PLoS Genetics, Public Library of Science, 2013, 9 (3), pp.e1003363. ⟨10.1371/journal.pgen.1003363⟩
PLoS Genetics, Vol 9, Iss 3, p e1003363 (2013)
PLoS Genetics, Public Library of Science, 2013, 9 (3), pp.e1003363. ⟨10.1371/journal.pgen.1003363⟩
PLoS Genetics, Vol 9, Iss 3, p e1003363 (2013)
We demonstrated previously that 75% of infertile men with round, acrosomeless spermatozoa (globozoospermia) had a homozygous 200-Kb deletion removing the totality of DPY19L2. We showed that this deletion occurred by Non-Allelic Homologous Recombinati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c98cea90b64b709040cf39d1194b4b35
https://hal.archives-ouvertes.fr/hal-00809646
https://hal.archives-ouvertes.fr/hal-00809646