Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Patrick Callier"'
Autor:
Aziza Lebbar, Sandra Chantot-Bastaraud, Catherine Yardin, Ghislaine Plessis, Patrick Edery, Damien Sanlaville, Laurence Faivre, Aline Receveur, Anne Claude Tabet, Solveig Heide, Laila El Khattabi, Patrick Callier, Christine Francannet, Alice Goldenberg, Eva Pipiras, Michèle Mathieu-Dramard, Chantal Missirian, Odile Boute-Benejean, Cécile Laroche, C. Francois-Fiquet, Pascal Garnier, Alice Masurel-Paulet, Nathalie Marle, Marion Gérard, Jean Michel Dupont, Alexandra Afenjar, Martine Doco Fenzy, Anne Moncla, Marie Pierre Cordier, Brigitte Benzacken, Jean-Hubert Caberg, Gaetan Lesca, Loïc de Pontual, Christine Ioos, Massimiliano Rossi, Nathalie Le Meur, Andrée Delahaye-Duriez, Joris Andrieux, Caroline Vincent-Delorme, Siham Chafai Elalaoui, Lesley Suiro, Philippe Vago, Anne-Laure Mosca-Boidron, Abdelhafid Natiq
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2018, ⟨10.1136/jmedgenet-2018-105389⟩
Journal of Medical Genetics, 2018, ⟨10.1136/jmedgenet-2018-105389⟩
Journal of Medical Genetics, BMJ Publishing Group, 2018, ⟨10.1136/jmedgenet-2018-105389⟩
Journal of Medical Genetics, 2018, ⟨10.1136/jmedgenet-2018-105389⟩
BackgroundThe clinical significance of 16p13.11 duplications remains controversial while frequently detected in patients with developmental delay (DD), intellectual deficiency (ID) or autism spectrum disorder (ASD). Previously reported patients were
Autor:
Christiane Zweier, Jamal Ghoumid, Cornelia Kraus, Sophie Nambot, Laurence Faivre, Antonio Vitobello, Stéphanie Moortgat, Thierry Bienvenu, Christel Thauvin-Robinet, Virginie Carmignac, Benjamin Cogné, Frédéric Tran Mau-Them, Julien Thevenon, Patrick Callier, Alain Verloes, Christophe Philippe, Sophie Naudion, Renaud Touraine, André Reis, Arthur Sorlin, Caroline Thuillier, Bruno Delobel, Thibaud Jouan, Francis Ramond, Cécile Zordan, Daphné Lehalle, Valérie Benoit, Yannis Duffourd, Mathilde Nizon, Emilie Tisserant, Thomas Smol
Publikováno v:
Clinical geneticsREFERENCES. 98(1)
X-linked intellectual disability (XLID) is a genetically heterogeneous condition involving more than 100 genes. To date, 35 pathogenic variants have been reported in the lysine specific demethylase 5C (KDM5C) gene. KDM5C variants are one of the major
Autor:
Brigitte Gilbert-Dussardier, Patrick Edery, Flavie Diguet, Géraldine Joly-Hélas, Fanny Morice-Picard, Nicolas Chatron, Jeanne Amiel, Fabienne Prieur, Jérome Toutain, Sandra Whalen, Marine Lebrun, Gwenaël Nadeau, Sylvie Jaillard, Céline Pebrel-Richard, Annabelle Chaussenot, Bénédicte Demeer, Florence Demurger, Sophie Dupuis-Girod, Marianne Till, Nicole Philip, Jacques Puechberty, Laurent Pasquier, Pierre-Antoine Rollat-Farnier, Claire Bardel, Anne-Marie Guerrot, Anne-Claude Tabet, Sylvie Odent, Annick Toutain, Alain Verloes, Jean-Michel Dupont, Christine Coubes, Aziza Lebbar, Yline Capri, Bertrand Isidor, James Lespinasse, Didier Lacombe, Julie Masson, Sophie Blesson, Marine Houlier, Véronique Paquis-Flucklinger, Michèle Mathieu-Dramard, Florence Amblard, Patrick Callier, Jonathan Levy, Chantal Missirian, Véronique Satre, Marie-France Portnoï, Cyril Mignot, Stéphanie Valence, Catherine Sarret, Sébastien Moutton, Françoise Devillard, Alice Masurel-Paulet, Caroline Schluth-Bolard, Patrick Collignon, Jean-Pierre Siffroi, Marie-Pierre Cordier, Renaud Touraine, Marlène Rio, Céline Dupont, Cédric Le Caignec, Damien Sanlaville, Audrey Putoux, Morgane Plutino, Valérie Kremer, Valérie Malan, Martine Doco-Fenzy, Alexandra Afenjar, Caroline Rooryck-Thambo, Massimiliano Rossi, Linda Pons, Gaetan Lesca, Laurence Faivre
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩
Journal of Medical Genetics, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩
Journal of Medical Genetics, BMJ Publishing Group, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩
Journal of Medical Genetics, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩
BackgroundBalanced chromosomal rearrangements associated with abnormal phenotype are rare events, but may be challenging for genetic counselling, since molecular characterisation of breakpoints is not performed routinely. We used next-generation sequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bfa0d97e8cc1623bbc8d64f06561370
https://hal.archives-ouvertes.fr/hal-02097116
https://hal.archives-ouvertes.fr/hal-02097116
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:
Dominique Bonneau, Luis A Gonzalez-Nieto, Stine Leenskjold, Patrick Callier, Isabelle Thiffault, Katheryn Grand, Pauline Bogaard, Séverine Drunat, Elizabeth J. Bhoj, Hakon Hakonarson, Katherine T. Wild, Elaine H. Zackai, Elena Repnikova, Damien Haye, Irene K Nielsen, Mirena C Astiazaran, Irfan Saadi, Daphné Lehalle, Ida Charlotte Bay Lund, Shivarajan M. Amudhavalli, Annick Toutain, Alain Verloes, Ana Sofia Carvalho, Dong Li, Carol J Saunders, Yoann Vial, Kadri Karaer
Publikováno v:
Eur J Med Genet
Bhoj, E J, Haye, D, Toutain, A, Bonneau, D, Nielsen, I K, Lund, I B, Bogaard, P, Leenskjold, S, Karaer, K, Wild, K T, Grand, K L, Astiazaran, M C, Gonzalez-Nieto, L A, Carvalho, A, Lehalle, D, Amudhavalli, S M, Repnikova, E, Saunders, C, Thiffault, I, Saadi, I, Li, D, Hakonarson, H, Vial, Y, Zackai, E, Callier, P, Drunat, S & Verloes, A 2019, ' Phenotypic spectrum associated with SPECC1L pathogenic variants : new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes ', European Journal of Medical Genetics, vol. 62, no. 12, 103588 . https://doi.org/10.1016/j.ejmg.2018.11.022
Eur J Med Genet, 2019, 62 (12), pp.103588. ⟨10.1016/j.ejmg.2018.11.022⟩
Bhoj, E J, Haye, D, Toutain, A, Bonneau, D, Nielsen, I K, Lund, I B, Bogaard, P, Leenskjold, S, Karaer, K, Wild, K T, Grand, K L, Astiazaran, M C, Gonzalez-Nieto, L A, Carvalho, A, Lehalle, D, Amudhavalli, S M, Repnikova, E, Saunders, C, Thiffault, I, Saadi, I, Li, D, Hakonarson, H, Vial, Y, Zackai, E, Callier, P, Drunat, S & Verloes, A 2019, ' Phenotypic spectrum associated with SPECC1L pathogenic variants : new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes ', European Journal of Medical Genetics, vol. 62, no. 12, 103588 . https://doi.org/10.1016/j.ejmg.2018.11.022
Eur J Med Genet, 2019, 62 (12), pp.103588. ⟨10.1016/j.ejmg.2018.11.022⟩
International audience; The SPECC1L protein plays a role in adherens junctions involved in cell adhesion, actin cytoskeleton organization, microtubule stabilization, spindle organization and cytokinesis. It modulates PI3K-AKT signaling and controls c
Autor:
Vincent des Portes, Salima El Chehadeh, Odile Boespflug-Tanguy, Nathalie Marle, Charles Coutton, Didier Lacombe, Patrick Callier, Anne Moncla, Mathilde Nizon, Christine Francannet, Marlène Rio, Valérie Cormier-Daire, Jean-Paul Bonnefont, Pierre-Simon Jouk, Anne-Laure Mosca-Boidron, Christophe Philippe, Alice Goldenberg, Hubert Journel, Mathilde Lefebvre, Bertrand Isidor, Bernard Echenne, Séverine Drunat, Françoise Devillard, Sébastien Lebon, Jeanne Amiel, Nicole Philip, Jean-Marie Cuisset, Nathalie Perreton, Marie-Claude Addor, Fabienne Prieur, Christel Thauvin-Robinet, Laurent Pasquier, Sophie Julia, Christèle Dubourg, Danièle Martinet, Laurent Guibaud, Laetitia Lambert, Jeanne Andrieux, Cédric Le Caignec, Catherine Badens, Catherine Sarret, Alice Masurel, Julien Thevenon, Renaud Touraine, Ghislaine Plessis, Fanny Laffargue, Lydie Burglen, Laurence Perrin, Bruno Leheup, Thierry Bienvenu, Valérie Malan, Alexandra Afenjar, Albert David, Clarisse Baumann, Marie-Ange Delrue, Jacqueline Vigneron, Annick Toutain, Laurence Faivre
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, 2016, 170 (1), pp.116-129. ⟨10.1002/ajmg.a.37384⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (1), pp.116-129. ⟨10.1002/ajmg.a.37384⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (1), pp.116-129. 〈10.1002/ajmg.a.37384〉
American Journal of Medical Genetics Part A, 2016, 170 (1), pp.116-129. ⟨10.1002/ajmg.a.37384⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (1), pp.116-129. ⟨10.1002/ajmg.a.37384⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (1), pp.116-129. 〈10.1002/ajmg.a.37384〉
International audience; Xq28 duplications encompassing MECP2 have been described in male patients with a severe neurodevelopmental disorder associated with hypotonia and spasticity, severe learning disability, stereotyped movements, and recurrent pul