Zobrazeno 1 - 10
of 78
pro vyhledávání: '"Anne-Claude, Tabet"'
Autor:
Elodie Fiot, Bertille Alauze, Bruno Donadille, Dinane Samara-Boustani, Muriel Houang, Gianpaolo De Filippo, Anne Bachelot, Clemence Delcour, Constance Beyler, Emilie Bois, Emmanuelle Bourrat, Emmanuel Bui Quoc, Nathalie Bourcigaux, Catherine Chaussain, Ariel Cohen, Martine Cohen-Solal, Sabrina Da Costa, Claire Dossier, Stephane Ederhy, Monique Elmaleh, Laurence Iserin, Hélène Lengliné, Armelle Poujol-Robert, Dominique Roulot, Jerome Viala, Frederique Albarel, Elise Bismuth, Valérie Bernard, Claire Bouvattier, Aude Brac, Patricia Bretones, Nathalie Chabbert-Buffet, Philippe Chanson, Regis Coutant, Marguerite de Warren, Béatrice Demaret, Lise Duranteau, Florence Eustache, Lydie Gautheret, Georges Gelwane, Claire Gourbesville, Mickaël Grynberg, Karinne Gueniche, Carina Jorgensen, Veronique Kerlan, Charlotte Lebrun, Christine Lefevre, Françoise Lorenzini, Sylvie Manouvrier, Catherine Pienkowski, Rachel Reynaud, Yves Reznik, Jean-Pierre Siffroi, Anne-Claude Tabet, Maithé Tauber, Vanessa Vautier, Igor Tauveron, Sebastien Wambre, Delphine Zenaty, Irène Netchine, Michel Polak, Philippe Touraine, Jean-Claude Carel, Sophie Christin-Maitre, Juliane Léger
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss S1, Pp 1-39 (2022)
Abstract Turner syndrome (TS; ORPHA 881) is a rare condition in which all or part of one X chromosome is absent from some or all cells. It affects approximately one in every 1/2500 liveborn girls. The most frequently observed karyotypes are 45,X (40
Externí odkaz:
https://doaj.org/article/47d7e0d1bd19414b82a3ff48728cebb1
Autor:
Ilaria Parenti, Elsa Leitão, Alma Kuechler, Laurent Villard, Cyril Goizet, Cécile Courdier, Allan Bayat, Alessandra Rossi, Sophie Julia, Ange-Line Bruel, Frédéric Tran Mau-Them, Sophie Nambot, Daphné Lehalle, Marjolaine Willems, James Lespinasse, Jamal Ghoumid, Roseline Caumes, Thomas Smol, Salima El Chehadeh, Elise Schaefer, Marie-Thérèse Abi-Warde, Boris Keren, Alexandra Afenjar, Anne-Claude Tabet, Jonathan Levy, Anna Maruani, Ángel Aledo-Serrano, Waltraud Garming, Clara Milleret-Pignot, Anna Chassevent, Marije Koopmans, Nienke E. Verbeek, Richard Person, Rebecca Belles, Gary Bellus, Bonnie A. Salbert, Frank J. Kaiser, Laure Mazzola, Philippe Convers, Laurine Perrin, Amélie Piton, Gert Wiegand, Andrea Accogli, Francesco Brancati, Fabio Benfenati, Nicolas Chatron, David Lewis-Smith, Rhys H. Thomas, Federico Zara, Pasquale Striano, Gaetan Lesca, Christel Depienne
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Synapsin-I (SYN1) is a presynaptic phosphoprotein crucial for synaptogenesis and synaptic plasticity. Pathogenic SYN1 variants are associated with variable X-linked neurodevelopmental disorders mainly affecting males. In this study, we expand on the
Externí odkaz:
https://doaj.org/article/c1a36df17ff14365b4007779f383c9f0
Autor:
Livia O. Loureiro, Jennifer L. Howe, Miriam S. Reuter, Alana Iaboni, Kristina Calli, Delnaz Roshandel, Iva Pritišanac, Alan Moses, Julie D. Forman-Kay, Brett Trost, Mehdi Zarrei, Olivia Rennie, Lynette Y. S. Lau, Christian R. Marshall, Siddharth Srivastava, Brianna Godlewski, Elizabeth D. Buttermore, Mustafa Sahin, Dean Hartley, Thomas Frazier, Jacob Vorstman, Stelios Georgiades, Suzanne M. E. Lewis, Peter Szatmari, Clarrisa A. (Lisa) Bradley, Anne-Claude Tabet, Marjolaine Willems, Serge Lumbroso, Amélie Piton, James Lespinasse, Richard Delorme, Thomas Bourgeron, Evdokia Anagnostou, Stephen W. Scherer
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-12 (2021)
Abstract Autism Spectrum Disorder (ASD) is genetically complex with ~100 copy number variants and genes involved. To try to establish more definitive genotype and phenotype correlations in ASD, we searched genome sequence data, and the literature, fo
Externí odkaz:
https://doaj.org/article/54f8fe923ab549de9877b0baef9d1c16
Autor:
Hadia Hijazi, Linda M. Reis, Davut Pehlivan, Jonathan A. Bernstein, Michael Muriello, Erin Syverson, Devon Bonner, Mehrdad A. Estiar, Ziv Gan-Or, Guy A. Rouleau, Ekaterina Lyulcheva, Lynn Greenhalgh, Marine Tessarech, Estelle Colin, Agnès Guichet, Dominique Bonneau, R.H. van Jaarsveld, A.M.A. Lachmeijer, Lyse Ruaud, Jonathan Levy, Anne-Claude Tabet, Rafal Ploski, Małgorzata Rydzanicz, Łukasz Kępczyński, Katarzyna Połatyńska, Yidan Li, Jawid M. Fatih, Dana Marafi, Jill A. Rosenfeld, Zeynep Coban-Akdemir, Weimin Bi, Richard A. Gibbs, Grace M. Hobson, Jill V. Hunter, Claudia M.B. Carvalho, Jennifer E. Posey, Elena V. Semina, James R. Lupski
Publikováno v:
Am J Hum Genet
An Xq22.2 region upstream of PLP1 has been proposed to underly a neurological disease trait when deleted in 46,XX females. Deletion mapping revealed that heterozygous deletions encompassing the smallest region of overlap (SRO) spanning six Xq22.2 gen
Autor:
Malek Bouassida, Matthieu Egloff, Jonathan Levy, Nicolas Chatron, Laura Bernardini, Gwenaël Le Guyader, Anne-Claude Tabet, Caroline Schluth-Bolard, Francesco Brancati, Maria Grazia Giuffrida, Rodolphe Dard, Juliette Clorennec, Juliette Coursimault, François Vialard, Bérénice Hervé
Publikováno v:
European Journal of Human Genetics.
Autor:
Aline Vitrac, Claire S. Leblond, Thomas Rolland, Freddy Cliquet, Alexandre Mathieu, Anna Maruani, Richard Delorme, Michael Schön, Andreas M. Grabrucker, Conny van Ravenswaaij-Arts, Katy Phelan, Anne-Claude Tabet, Thomas Bourgeron
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, 2023, 66 (5), pp.104732. ⟨10.1016/j.ejmg.2023.104732⟩
European journal of medical genetics, 66(5):104732. ELSEVIER SCIENCE BV
European Journal of Medical Genetics, 2023, 66 (5), pp.104732. ⟨10.1016/j.ejmg.2023.104732⟩
European journal of medical genetics, 66(5):104732. ELSEVIER SCIENCE BV
International audience; SHANK3-related Phelan-McDermid syndrome (PMS) is caused by a loss of the distal part of chromosome 22, including SHANK3, or by a pathological SHANK3 variant. There is an important genetic and phenotypic diversity among patient
Autor:
Cécile Courdier, John Boudjarane, Valérie Malan, Christine Muti, Brian Sperelakis‐Beedham, Sylvie Odent, Sylvie Jaillard, Chloé Quelin, Cédric Le Caignec, Olivier Patat, Charlotte Dubucs, Sophie Julia, Caroline Schluth‐Bolard, Carole Goumy, Sylvia Redon, Jean‐Baptiste Gaillard, Minh Tuan Huynh, Céline Dupont, Anne‐Claude Tabet, Guillaume Cogan, François Vialard, Rodolphe Dard, Guillaume Jedraszak, Florence Jobic, Mathilde Lefebvre, Geneviève Quenum, Saori Inai, Mélanie Rama, Fanny Sauvestre, Frédéric Coatleven, Julie Thomas, Caroline Rooryck
Publikováno v:
Prenatal Diagnosis
Prenatal Diagnosis, 2023, ⟨10.1002/pd.6340⟩
Prenatal Diagnosis, 2023, ⟨10.1002/pd.6340⟩
International audience; Objective: We aimed to gather fetal cases carrying a 7q11.23 copy number variation (CNV) and collect precise clinical data to broaden knowledge of antenatal features in these syndromes.Methods: We retrospectively recruited unr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2298cfc427024007f848f111933c8ba8
https://hal-u-picardie.archives-ouvertes.fr/hal-04032330
https://hal-u-picardie.archives-ouvertes.fr/hal-04032330
Autor:
Glen D. Thomson, Olga Calabrese, Hong Cui, Sandra Chantot Bastaraud, Frances Elmslie, Renee Carroll, Agnès Guët, Sandra Whalen, Anne Slavotinek, Thierry Billette de Villemeur, Vishal Kumar, Brian Kirmse, Patrick Yap, Elise Brischoux-Boucher, Florence Riccardi, Jenny Morton, Carroll Jennifer, Jonathan Levy, Manoelle Kossorotoff, Alessandro Mauro Spinelli, Elisabeth Forsythe, Annelies Dheedene, Anne McCabe, Cecile Cieuta Walti, Jozef Gecz, Anne Claude Tabet, Laurent Villard, Cyril Mignot, Kristen V. Truxal, Jessica N. Hartley, Annick Raas-Rothschild, Jillian R Ozmore, Marie Shaw, Jan Liebelt, Delphine Héron, Patrick Frosk, Benjamin Kamien, Jane A. Hurst, Antonella Pini
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2021, ⟨10.1038/s41431-021-00821-0⟩
European Journal of Human Genetics, 2021, ⟨10.1038/s41431-021-00821-0⟩
Eur J Hum Genet
European journal of human genetics : EJHG, vol 29, iss 9
European journal of human genetics, 29(9), 1405-1417. Nature Publishing Group
European Journal of Human Genetics, Nature Publishing Group, 2021, ⟨10.1038/s41431-021-00821-0⟩
European Journal of Human Genetics, 2021, ⟨10.1038/s41431-021-00821-0⟩
Eur J Hum Genet
European journal of human genetics : EJHG, vol 29, iss 9
European journal of human genetics, 29(9), 1405-1417. Nature Publishing Group
International audience; The BCAP31 gene, located at Xq28, encodes BAP31, which plays a role in ER-to-Golgi anterograde transport. To date, BCAP31 pathogenic variants have been reported in 12 male cases from seven families (six loss of function (LoF)
Autor:
Malek Bouassida, Matthieu Egloff, Jonathan Levy, Nicolas Chatron, Laura Bernardini, Gwenael Le Guyader, Anne-Claude Tabet, Caroline Schluth-Bolard, Francesco Brancati, Maria Giuffrida, Rodolphe Dard, Juliette Clorennec, Juliette Coursimault, François Vialard, Bérénice Herve
Microduplications involving the MYT1L gene have mostly been described in series of patients with isolated schizophrenia. However, few reports have been published, and the phenotype has still not been well characterized. We sought to further character
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b1aaf6311267770c1208f5856d01852f
https://doi.org/10.21203/rs.3.rs-2126594/v1
https://doi.org/10.21203/rs.3.rs-2126594/v1
Autor:
Marcello Niceta, Simone Pizzi, Francesca Inzana, Angela Peron, Somayeh Bakhtiari, Mathilde Nizon, Jonathan Levy, Cecilia Mancini, Benjamin Cogné, Francesca Clementina Radio, Emanuele Agolini, Dario Cocciadiferro, Antonio Novelli, Mustafa A. Salih, Maria Paola Recalcati, Rosangela Arancio, Marianne Besnard, Anne‐Claude Tabet, Michael C. Kruer, Manuela Priolo, Bruno Dallapiccola, Marco Tartaglia
Publikováno v:
Clinical geneticsREFERENCES. 103(2)
CNOT2 haploinsufficiency underlies a rare neurodevelopmental disorder named Intellectual Developmental disorder with NAsal speech, Dysmorphic Facies, and variable Skeletal anomalies (IDNADFS, OMIM 618608). The condition clinically overlaps with chrom