Zobrazeno 101 - 110
of 277
pro vyhledávání: '"Christel Thauvin‐Robinet"'
Autor:
Virginie Carmignac, David Vandroux, Nathalie Droin, Patrick Callier, Guillaume Meurice, Laurence Faivre, Noémie Pata-Merci, Romaric Loffroy, Christel Thauvin-Robinet, Ange-Line Bruel, Romain Da Costa, Julien Thevenon, Olivier Bouchot, Laurence Duplomb, Eric Solary
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2017, 26 (23), pp.4680-4688. ⟨10.1093/hmg/ddx349⟩
Human Molecular Genetics, Oxford University Press (OUP), 2017, 〈https://academic.oup.com/hmg/article-abstract/doi/10.1093/hmg/ddx349/4110401?redirectedFrom=fulltext〉. 〈10.1093/hmg/ddx349〉
Human Molecular Genetics, Oxford University Press (OUP), 2017, 26 (23), pp.4680-4688. ⟨10.1093/hmg/ddx349⟩
Human Molecular Genetics, Oxford University Press (OUP), 2017, 〈https://academic.oup.com/hmg/article-abstract/doi/10.1093/hmg/ddx349/4110401?redirectedFrom=fulltext〉. 〈10.1093/hmg/ddx349〉
IF 5.340; International audience; The main identified function of BCL2 protein is to prevent cell death by apoptosis. Mice knock-out for Bcl2 demonstrate growth retardation, severe polycystic kidney disease (PKD), gray hair and lymphopenia, and die p
Autor:
Julien Thevenon, Christiane Zweier, Hilde Olivié, Nicole Revencu, Aurélia Jacquette, Megan T. Cho, Anne-Laure Mosca-Boidron, Marjolein H. Willemsen, Laurence Faivre, Yannis Duffourd, Odile Boute-Benejean, Elaine H. Zackai, Carey McDougall, Amber Begtrup, Anita Rauch, Christel Thauvin-Robinet, Perrine Charles, Koen L.I. van Gassen, Thomas Smol, Laurence Duplomb-Jego, Daphné Lehalle, Amanda Clarkson, Orrin Devinsky, Catherine Vincent-Delorme, Paul Kuentz, Bénédicte Gérard, Patrick Callier, Karol Rubin, Jean-Baptiste Rivière, Sébastien Moutton, Deborah J. Shears, Ana Lisa Taylor Tavares, Ingrid Simonic, Paulien A. Terhal, Soo-Mi Park, Alice Masurel-Paulet, Golder N. Wilson
Publikováno v:
Journal of Medical Genetics, 54(7), 479. BMJ Publishing Group
Journal of Medical Genetics, 54, 479-488
Journal of Medical Genetics, 54, 7, pp. 479-488
Journal of Medical Genetics, 54, 479-488
Journal of Medical Genetics, 54, 7, pp. 479-488
Item does not contain fulltext BACKGROUND: Cohesinopathies are rare neurodevelopmental disorders arising from a dysfunction in the cohesin pathway, which enables chromosome segregation and regulates gene transcription. So far, eight genes from this p
Autor:
Joshi Stephen, Alexander G. Bassuk, Hatem El-Shanti, Yasser Al-Sarraj, Christel Thauvin-Robinet, May Christine V. Malicdan, Judith St-Onge, William P. Bone, James C. Mullikin, Ariane Soldatos, Yannis Dufford, Jean Baptiste Rivière, Tawfeg Ben-Omran, Alice Masurel-Paulet, Julien Thevenon, Jamil Al-Alami, Allison Cox, Hala Boulos, Marios Kambouris, William A. Gahl, Corrine Chantegret, Nisc Comparative Sequencing Program, Laurence Faivre
Publikováno v:
Annals of Clinical and Translational Neurology. 4:26-35
Objectives Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the ot
Autor:
Aurélie Bourchany, Dan Lipsker, Sylvie Fraitag, Maria Cristina Antal, Rosalie Abida, Hélène Dollfus, Jamel Chelly, Mathilde Lefebvre, Nadège Calmels, Fanny Morice-Picard, Salima El Chehadeh, Christel Thauvin-Robinet, Marie Gonzales, Laurence Faivre, Vincent Laugel, A. S. Weingertner, Pierre Vabres, Julien Thevenon, Jean-Baptiste Rivière, Yannis Duffourd, Marguerite Miguet, Elise Schaefer, Valérie Kremer, Jean-Louis Mandel
Publikováno v:
Prenatal Diagnosis. 36:1276-1279
Autor:
Jean Donadieu, Delphine Héron, Laurence Faivre, Salima El Chehadeh, Daphné Lehalle, Claire Briandet, Elodie Gautier, Julien Thevenon, Daniel Amram, Thibaud Jouan, Jean-Baptiste Rivière, Judith Melki, Laurence Duplomb-Jego, Frédéric Huet, Christine Bellanné-Chantelot, Christel Thauvin-Robinet, Ange-Line Bruel, Yannis Duffourd, Lucile Pinson, Isabelle Maystadt, Judith St-Onge, Sophia Julia, Alexandra Gauthier-Vasserot, Paul Kuentz
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2016, ⟨10.1002/ajmg.a.37969⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 〈10.1002/ajmg.a.37969〉
American Journal of Medical Genetics Part A, 2016, ⟨10.1002/ajmg.a.37969⟩
American Journal of Medical Genetics Part A, Wiley, 2016, ⟨10.1002/ajmg.a.37969⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 〈10.1002/ajmg.a.37969〉
American Journal of Medical Genetics Part A, 2016, ⟨10.1002/ajmg.a.37969⟩
International audience; Neutropenia can be qualified as congenital when of neonatal onset or when associated with extra-hematopoietic manifestations. Overall, 30% of patients with congenital neutropenia (CN) remain without a molecular diagnosis after
Autor:
Florence Demurger, Christine Binquet, Muriel Holder, Frédéric Tran Mau-Them, Salima El Chehadeh, Martine Doco-Fenzy, Geneviève Baujat, Delphine Héron, Judith St-Onge, Christophe Philippe, Elodie Gautier, Robert Olaso, Rebecca A. Barnard, Paul Kuentz, François Lecoquierre, Stanislas Lyonnet, Gwenaëlle Collod-Béroud, Dominique Martin-Coignard, Isabelle Missotte, Anne Boland, Cyril Goizet, Laurence Perrin, Valérie Cormier-Daire, Sébastien Moutton, Nadine Hanna, Jean-François Deleuze, Audrey Putoux, Guillaume Jondeau, Sylvie Odent, Doris Lechner, Arnold Munnich, Thibaud Jouan, Aurélia Jacquette, Pierre-Simon Jouk, Martin Chevarin, Virginie Carmignac, Elisabetta Lapi, Alice Goldenberg, Christel Thauvin-Robinet, Sujatha Jagadeesh, P. Callier, Fatma Daoud, Yannis Duffourd, Frédéric Huet, Nathalie Marle, Charlotte Poe, Gipsy Lopez, Cyril Mignot, Florence Petit, Khadija Amarof, Brian J. O'Roak, Caroline Cabret, Fanny Morice-Picard, Jean Baptiste Rivière, Mirna Assoum, Marie Ange Delrue, Julien Thevenon, Laurence Faivre, David Geneviève, Elisabeth Sarrazin, Ange Line Bruel, Pauline Arnaud, Catherine Boileau, Christine Coubes, Didier Lacombe, Laurence Duplomb, Alice Masurel, Patrick Collignon, Antonio Vitobello, Julien Van-Gils, Bruno Leheup, Nolwenn Jean-Marçais
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2020, 57 (7), pp.466-474. ⟨10.1136/jmedgenet-2019-106425⟩
Journal of Medical Genetics, 2020, 57 (7), pp.466-474. ⟨10.1136/jmedgenet-2019-106425⟩
Journal of Medical Genetics, BMJ Publishing Group, 2020, 57 (7), pp.466-474. ⟨10.1136/jmedgenet-2019-106425⟩
Journal of Medical Genetics, 2020, 57 (7), pp.466-474. ⟨10.1136/jmedgenet-2019-106425⟩
PurposeMarfanoid habitus (MH) combined with intellectual disability (ID) (MHID) is a clinically and genetically heterogeneous presentation. The combination of array CGH and targeted sequencing of genes responsible for Marfan or Lujan–Fryns syndrome
Autor:
Melissa L. Crenshaw, Karin M. Dent, Ange Line Bruel, Mirna Assoum, Ingrid M. Wentzensen, Antonio Vitobello, Laurence Faivre, Kirsty McWalter, Paul Kuentz, Julian Delanne, Christel Thauvin-Robinet, Julien Thevenon, Yannis Duffourd
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 182(4)
In 2011, KIAA1033/WASHC4 was associated with autosomal recessive intellectual disability (ARID) in a large consanguineous family comprising seven affected individuals with moderate ID and short stature. Since then, no other cases of KIAA1033 variants
Autor:
Julien Thevenon, Sophie Dupuis-Girod, Pierre Ancet, Aurélie Godard, Lorraine Joly, Aurore Pélissier, Christine Juif, Audrey Putoux, Laurence Faivre, Elodie Cretin, Elodie Gautier, Gaetan Lesca, Dominique Salvi, Paulette Morin, Yannis Duffourd, Alice Masurel, Christel Thauvin-Robinet, Olivier Putois, Nolwenn Jean-Marçais, Christine Peyron, Aline Chassagne, Françoise Houdayer, Daphné Lehalle, Marie-Pierre Cordier, D Sanlaville, Massimiliano Rossi, Sophie Béjean, Sarah Kidri, Anne-Sophie Lapointe, Jean-Baptiste Rivière, Patrick Edery, Marianne Till
Publikováno v:
Eur J Hum Genet
Exome sequencing (ES) has revolutionized diagnostic procedures in medical genetics, particularly for developmental diseases. The variety and complexity of the information produced has raised issues regarding its use in a clinical setting. Of particul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ac94ba50f218916eff8c6631747399e
https://europepmc.org/articles/PMC6461801/
https://europepmc.org/articles/PMC6461801/
Autor:
Sebastien Moutton, Aurore Garde, Laurence Faivre, François Feillet, Christel Thauvin-Robinet, Paul Kuentz, Antonio Vitobello, Frédéric Huet, Arthur Sorlin, Roberto Colombo, Nada Houcinat, Yannis Duffourd, Caroline Racine, Julian Delanne, Christophe Philippe, Daphné Lehalle, Michael J. O'Grady, Julien Thevenon, Frédéric Tran Mau-Them, Bénédicte Héron, Sandrine Marlin, Sophie Nambot
Publikováno v:
American journal of medical genetics. Part A. 179(9)
Alpha-mannosidosis (AM) is a very rare (prevalence: 1/500000 births) autosomal recessive lysosomal storage disorder. It is characterized by multi-systemic involvement associated with progressive intellectual disability, hearing loss, skeletal anomali
Autor:
Robert Smigiel, Géraldine Joly-Helas, Linyan Meng, Gregory M. Cooper, Nolwenn Jean-Marçais, Christel Thauvin-Robinet, Bruno Kieffer, Christopher T. Gordon, Laurence Faivre, Rhonda E. Schnur, Sarah L. Dugan, Seema R. Lalani, Heather C Mefford, Susan M. Hiatt, Marlène Rio, Seiamak Bahram, Jamel Chelly, Caroline Schluth-Bolard, Tatiana Tvrdik, Alison M. Muir, Eva Erdmann, Aline Kolmer, Aurore Garde, Angélique Pichot, Raphael Carapito, Mary K. Kukolich, Andrea M. Lewis, David Hunt, Clémantine Dimartino, Aurore Morlon, Anne Molitor, Ingrid M. Wentzensen, Fabien Dutreux, Nicodème Paul, Carlos A. Bacino, Nina B. Gold, Frédéric Tran Mau-Them, Olaf Bodamer, Deciphering Developmental Disorders Study, Zijie Sun, Pinar Bayrak-Toydemir, Heather P. Crawford, Victoria Harrison, Jocelyn Céraline, Jeanne Amiel, Mira Kharbanda, Christina Hung, A. Hanauer, Anne-Marie Guerrot, David Viskochil, Bertrand Isidor, Maya Chopra, Kirsty McWalter, Lydie Naegely, Meredith Phillips, Xia Wang, Rafał Płoski, Noel Mensah-Bonsu, Ekaterina L. Ivanova, Magalie S. Leduc
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104, pp.319-330. ⟨10.1016/j.ajhg.2018.12.007⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104, pp.319-330. ⟨10.1016/j.ajhg.2018.12.007⟩
ZMIZ1 is a coactivator of several transcription factors, including p53, the androgen receptor, and NOTCH1. Here, we report 19 subjects with intellectual disability and developmental delay carrying variants in ZMIZ1. The associated features include gr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25ce89018be6a7579f0f2e0f77c8b7d7