Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Anne Faudet"'
Autor:
Estelle Colin, Yannis Duffourd, Emilie Tisserant, Raissa Relator, Ange-Line Bruel, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Hana Safraou, Julian Delanne, Nolwenn Jean-Marçais, Boris Keren, Bertrand Isidor, Marie Vincent, Cyril Mignot, Delphine Heron, Alexandra Afenjar, Solveig Heide, Anne Faudet, Perrine Charles, Sylvie Odent, Yvan Herenger, Arthur Sorlin, Sébastien Moutton, Jennifer Kerkhof, Haley McConkey, Martin Chevarin, Charlotte Poë, Victor Couturier, Valentin Bourgeois, Patrick Callier, Anne Boland, Robert Olaso, Christophe Philippe, Bekim Sadikovic, Christel Thauvin-Robinet, Laurence Faivre, Jean-François Deleuze, Antonio Vitobello
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Purpose: Patients with rare or ultra-rare genetic diseases, which affect 350 million people worldwide, may experience a diagnostic odyssey. High-throughput sequencing leads to an etiological diagnosis in up to 50% of individuals with heterogeneous ne
Externí odkaz:
https://doaj.org/article/dc232e817b8e4d02a082ed5b52095a4f
Autor:
Marta Massimello, Delphine Héron, Tania Attié-Bitach, Myrtille Spentchian, Anne Faudet, Marie-Amélie Rocchisanni, Laurent Mandelbrot, Alexandra Benachi, Julien Saada, Florence Bretelle, Stéphanie Friszer, Paul Maurice, Catherine Garel, Julien Buratti, Mathilde Nizon, Valérie Layet, Jean-Marie Jouannic, Thierry Billette de Villemeur, Corinne Mach, Mathieu Milh, Lucie Guilbaud, Stéphanie Valence, Agnès Guët, Genevieve Quenum‐Miraillet, Sébastien Moutton, Rodolphe Dard, Sandra Chantot-Bastaraud, Valérie Olin, Magali Gorce, Daphné Lehalle, Marta Spodenkiewic, Marie-Laure Moutard, Linda Mouthon, Solveig Heide, Elodie Lejeune, Vassili Tsatsaris, Claire Beneteau, Marie Vincent, Laurent Guibaud, Sandra Whalen, Cyril Mignot, Vincent des Portes, Eléonore Blondiaux, Mathilde Lefebvre, Audrey Putoux, Boris Keren
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 2020, 22 (11), pp.1887-1891. ⟨10.1038/s41436-020-0872-8⟩
Genetics in Medicine, 2020, 22 (11), pp.1887-1891. ⟨10.1038/s41436-020-0872-8⟩
International audience; Purpose: Abnormality of the corpus callosum (AbnCC) is etiologically a heterogeneous condition and the prognosis in prenatally diagnosed cases is difficult to predict. The purpose of our research was to establish the diagnosti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0322356e1f172baed1f1a77a7d76a05
https://doi.org/10.1038/s41436-020-0872-8
https://doi.org/10.1038/s41436-020-0872-8
Autor:
Roseline Vibert, Cyril Mignot, Boris Keren, Sandra Chantot‐Bastaraud, Marie‐France Portnoï, Marie‐Christine Nouguès, Marie‐Laure Moutard, Anne Faudet, Sandra Whalen, Damien Haye, Catherine Garel, Nicolas Chatron, Massimiliano Rossi, Catherine Vincent‐Delorme, Odile Boute, Bruno Delobel, Joris Andrieux, Françoise Devillard, Charles Coutton, Jacques Puechberty, Céline Pebrel‐Richard, Cindy Colson, Marion Gerard, Chantal Missirian, Sabine Sigaudy, Tiffany Busa, Martine Doco‐Fenzy, Valérie Malan, Marlène Rio, Bérénice Doray, Damien Sanlaville, Jean‐Pierre Siffroi, Delphine Héron, Solveig Heide
Publikováno v:
Clinical Genetics
Clinical Genetics, 2022, 101 (3), pp.307-316. ⟨10.1111/cge.14096⟩
Clinical Genetics, 2022, 101 (3), pp.307-316. ⟨10.1111/cge.14096⟩
International audience; Inverted duplication deletion 8p [invdupdel(8p)] is a complex and rare chromosomal rearrangement that combines a distal deletion and an inverted interstitial duplication of the short arm of chromosome 8. Carrier patients usual
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2105f721b0cce4c780286d83238add0
https://pubmed.ncbi.nlm.nih.gov/34866188
https://pubmed.ncbi.nlm.nih.gov/34866188
Autor:
Amélie Piton, Melanie Bahlo, Paul J. Lockhart, Vesna Lukic, Caroline Nava, David J. Amor, Pierre Bitoun, Vicki Anderson, Fabien Lesne, Greta Gillies, Amanda G. Wood, Justine Guegan, Gail Robinson, Catherine Garel, Alexis Brice, Sarah E.M. Stephenson, Guy A. Rouleau, Aurélie Méneret, Delphine Héron, Kate Pope, Solveig Heide, Cyril Mignot, Emmanuel Roze, Angélique Quartier, Jean-Louis Mandel, Annalisa Paolino, Quentin Welniarz, Sylvie Odent, Florence Riant, George McGillivray, Linda J. Richards, Ilan Gobius, Elliott H. Sherr, Tania Attié-Bitach, Charles A. Galea, Timothy J. Edwards, Myriam Srour, Megan Spencer-Smith, Oriane Trouillard, Laura Morcom, Boris Keren, Christel Depienne, Marie Laure Moutard, Anne Faudet, Richard J. Leventer, Alissandra McIlroy, Agnès Rastetter, Thierry Billette de Villemeur, Simone Mandelstam, Jens Bunt, Martin B. Delatycki, Rick M. Tankard, Ashley P L Marsh
Publikováno v:
Nature Genetics
Nature Genetics, Nature Publishing Group, 2017, 49 (4), pp.511-514. ⟨10.1038/ng.3794⟩
Nature Genetics, Nature Publishing Group, 2017, 49 (4), pp.511-514. 〈10.1038/ng.3794〉
Nature Genetics, 2017, 49 (4), pp.511-514. ⟨10.1038/ng.3794⟩
Nature Genetics, Nature Publishing Group, 2017, 49 (4), pp.511-514. ⟨10.1038/ng.3794⟩
Nature Genetics, Nature Publishing Group, 2017, 49 (4), pp.511-514. 〈10.1038/ng.3794〉
Nature Genetics, 2017, 49 (4), pp.511-514. ⟨10.1038/ng.3794⟩
International audience; Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8ed48cf72d3e7ff3e948cd8c5c51c1d
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01502133/file/Mutations_in_DCC_cause_isolated_agenesis.pdf
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01502133/file/Mutations_in_DCC_cause_isolated_agenesis.pdf
Autor:
Isabelle Marey, Anne Faudet, Sandra Chantot-Bastaraud, Caroline Rooryck, Annick Toutain, Damien Haye, Vincent des Portes, Corinne Mach, Laurence Olivier-Faivre, Thierry Billette de Villemeur, Sandra Whalen, Eric Fonteneau, Marie-Laure Moutard, Delphine Héron, Alice Masurel-Paulet, D Sanlaville, Sophie Naudion, Christel Depienne, Cyril Mignot, Cédric Le Caignec, Christel Thauvin-Robinet, Didier Lacombe, Caroline Nava, Dorothée Ville, Aurélia Jacquette, Boris Keren, Jean-Pierre Siffroi, Fabien Lesne, Solveig Heide, Elodie Lejeune
Publikováno v:
The Journal of Pediatrics
The Journal of Pediatrics, 2017, 185, pp.160-166.e1. ⟨10.1016/j.jpeds.2017.02.023⟩
Journal of Pediatrics
Journal of Pediatrics, Elsevier, 2017, 185, pp.160-166.e1. ⟨10.1016/j.jpeds.2017.02.023⟩
The Journal of Pediatrics, 2017, 185, pp.160-166.e1. ⟨10.1016/j.jpeds.2017.02.023⟩
Journal of Pediatrics
Journal of Pediatrics, Elsevier, 2017, 185, pp.160-166.e1. ⟨10.1016/j.jpeds.2017.02.023⟩
International audience; OBJECTIVE:To evaluate the role that chromosomal micro-rearrangements play in patients with both corpus callosum abnormality and intellectual disability, we analyzed copy number variations (CNVs) in patients with corpus callosu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51b4139616623bd8f0fb46c5f22d4db9
https://u-bourgogne.hal.science/hal-01560200
https://u-bourgogne.hal.science/hal-01560200
Autor:
Marion Leboyer, Didier Périsse, Anne Faudet, Eric Fonteneau, Delphine Héron, Cyril Mignot, David Cohen, Nathalie Dorison, Sandra Whalen, Aurélia Jacquette, Sandra Chantot-Bastaraud, Diane Doummar, Claire Amiet, Boris Keren, Jean-Pierre Siffroi, Claudine Laurent, Caroline Nava, Agnès Rastetter, Alexis Brice, Alexandra Afenjar, Christel Depienne
Publikováno v:
European Journal of Human Genetics. 22:71-78
Copy number variants (CNVs) have repeatedly been found to cause or predispose to autism spectrum disorders (ASDs). For diagnostic purposes, we screened 194 individuals with ASDs for CNVs using Illumina SNP arrays. In several probands, we also analyze
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83b830240ca15bab182e17c18f08bece
https://doi.org/10.1038/ejhg.2013.88
https://doi.org/10.1038/ejhg.2013.88
Autor:
Alain Verloes, Caroline Alby, Cécile Masson, Caroline Nava, Aurélia Jacquette, Tania Attié-Bitach, Catherine Garel, Thierry Bienvenu, Anne Faudet, Cyril Mignot, Christine Bole-Feysot, Patrick Nitschké, Alexandra Afenjar, Fabien Lesne, Didier Lacombe, Diane Doummar, Solveig Heide, Delphine Héron, Agnès Rastetter, Christel Depienne, Thierry Billette, Lucile Boutaud, Marie-Laure Moutard
Publikováno v:
Brain : a journal of neurology. 139(11)
Sir, In their extensive review article in Brain , Edwards et al. (2014) presented physiological processes underlying the formation of the corpus callosum, as well as pathological conditions in mice and humans leading to agenesis of the corpus callosu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::496dfded4831c15cdb43d2593a4a8736
https://pubmed.ncbi.nlm.nih.gov/27474217
https://pubmed.ncbi.nlm.nih.gov/27474217
Autor:
Séverine Lejeune, Khadija Lahlou-Laforet, Josué Feingold, Marcela Gargiulo, Anne Faudet, Marie-Laure Tanguy, Alexandra Durr, David Cohen
Publikováno v:
European Journal of Human Genetics. 17:165-171
Our study on long-term outcome of presymptomatic testing for Huntington disease had two aims: the comparison of the psychological well-being and social adjustment of carriers and non-carriers of the mutation, and the identification of psychological d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6565b67ae836194e1b62fb4d3094297e
https://doi.org/10.1038/ejhg.2008.146
https://doi.org/10.1038/ejhg.2008.146
Autor:
Caroline, Nava, Johanna, Rupp, Jean-Paul, Boissel, Cyril, Mignot, Agnès, Rastetter, Claire, Amiet, Aurélia, Jacquette, Céline, Dupuits, Delphine, Bouteiller, Boris, Keren, Merle, Ruberg, Anne, Faudet, Diane, Doummar, Anne, Philippe, Didier, Périsse, Claudine, Laurent, Nicolas, Lebrun, Vincent, Guillemot, Jamel, Chelly, David, Cohen, Delphine, Héron, Alexis, Brice, Ellen I, Closs, Christel, Depienne
Publikováno v:
Amino Acids
Amino Acids, Springer Verlag, 2015, 47 (12), pp.2647-2658. 〈10.1007/s00726-015-2057-3〉
Amino Acids, 2015, 47 (12), pp.2647-2658. ⟨10.1007/s00726-015-2057-3⟩
Amino Acids, Springer Verlag, 2015, 47 (12), pp.2647-2658. ⟨10.1007/s00726-015-2057-3⟩
Amino Acids, Springer Verlag, 2015, 47 (12), pp.2647-2658. 〈10.1007/s00726-015-2057-3〉
Amino Acids, 2015, 47 (12), pp.2647-2658. ⟨10.1007/s00726-015-2057-3⟩
Amino Acids, Springer Verlag, 2015, 47 (12), pp.2647-2658. ⟨10.1007/s00726-015-2057-3⟩
Cationic amino acid transporters (CATs) mediate the entry of L-type cationic amino acids (arginine, ornithine and lysine) into the cells including neurons. CAT-3, encoded by the SLC7A3 gene on chromosome X, is one of the three CATs present in the hum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6d460b7750dbb96e4ffe20a17ebb10ce
https://hal.sorbonne-universite.fr/hal-01191525/file/Nava_2015_Hypomorphic.pdf
https://hal.sorbonne-universite.fr/hal-01191525/file/Nava_2015_Hypomorphic.pdf
Autor:
Annick Toutain, Tania Attié-Bitach, Cyril Mignot, Delphine Héron, Anne Faudet, Vincent des Portes, Didier Lacombe, Catherine Garel, Sandra Whalen, Laurence Faivre, Thierry Billette de Villemeur, Sandra Chantot-Bastaraud, Boris Keren, Christel Depienne, Lucile Boutaud, Solveig Heide, Marie-Laure Moutard, Caroline Nava, Agnès Rastetter, Alexandra Afenjar
Publikováno v:
European Journal of Paediatric Neurology. 21:e84
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::378db7a31b12ff4e22202ddaa26eeb3b
https://doi.org/10.1016/j.ejpn.2017.04.859
https://doi.org/10.1016/j.ejpn.2017.04.859