Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Patrick Callier"'
Autor:
Julian Delanne, Ange-Line Bruel, Frédéric Huet, Sébastien Moutton, Sophie Nambot, Margot Grisval, Nada Houcinat, Paul Kuentz, Arthur Sorlin, Patrick Callier, Nolwenn Jean-Marcais, Anne-Laure Mosca-Boidron, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Daphné Lehalle, Salima El Chehadeh, Christine Francannet, Marine Lebrun, Laetitia Lambert, Marie-Line Jacquemont, Marion Gerard-Blanluet, Jean-Luc Alessandri, Marjolaine Willems, Julien Thevenon, Mondher Chouchane, Véronique Darmency, Clémence Fatus-Fauconnier, Sébastien Gay, Marie Bournez, Alice Masurel, Vanessa Leguy, Yannis Duffourd, Christophe Philippe, François Feillet, Laurence Faivre, Christel Thauvin-Robinet
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100812-(2021)
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100812-(2021)
Considering that some Inherited Metabolic Disorders (IMDs) can be diagnosed in patients with no distinctive clinical features of IMDs, we aimed to evaluate the power of exome sequencing (ES) to diagnose IMDs within a cohort of 547 patients with unspe
Autor:
Magali Tournaire, Yuri Musizzano, E Mousty, Patrick Callier, Anouck Schneider, Carole Corsini, Vincent Gatinois, Emmanuelle Haquet, Nicole Bigi, Jean-Baptiste Gaillard, Geneviève Lefort, Franck Pellestor, Clémence Ragon, David Geneviève, Patricia Blanchet, Jacques Puechberty, Jean Chiesa, Lucile Pinson, Marie-Josée Perez
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, 2019, 7 (11), pp.e00895. ⟨10.1002/mgg3.895⟩
Molecular Genetics & Genomic Medicine, Wiley Periodicals, Inc. 2019, 7 (11), ⟨10.1002/mgg3.895⟩
Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine, 2019, 7 (11), pp.e00895. ⟨10.1002/mgg3.895⟩
Molecular Genetics & Genomic Medicine, Wiley Periodicals, Inc. 2019, 7 (11), ⟨10.1002/mgg3.895⟩
Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)
BACKGROUND: Tetrasomy 21 is a very rare aneuploidy which could clinically resemble a Down syndrome. It was most often described in its partial form than complete. We report the prenatal, pathological and genetic characteristics of a fetus with mosaic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61cd15b3709ca26efa2c8ef5dc6afc20
https://hal.umontpellier.fr/hal-02562012
https://hal.umontpellier.fr/hal-02562012
Autor:
Muriel Payet, Christel Thauvin-Robinet, Nabila Dhouibi, Laurence Faivre, Bernard Aral, Marie Eliade, Candace Bensignor, Salima El Chehadeh, Anne-Laure Mosca-Boidron, Azarnouche Ardalan, Sylviane Ragot, Nathalie Marle, Clémence Ragon, Laurent Desch, Julien Thevenon, Patrick Callier
Publikováno v:
Molecular Cytogenetics
Background Prader-Willi syndrome (PWS) is characterized by hypotonia, delayed neuropsychomotor development, overeating, obesity and mental deficiency. This phenotype is encountered in other conditions, defining Prader-Willi-like syndrome (PWLS). Case