Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Patrick Callier"'
Autor:
Ji-eun Yoon, Arjun Krishnan, Marie Vincent, Marco Fichera, Claire Beneteau, Erik A. Sistermans, Nathalie Marle, Luana Mandarà, Sau Wai Cheung, R. Frank Kooy, Teresa Mattina, Rachel L. Kember, Mathilde Nizon, Jill A. Rosenfeld, Alexandre Reymond, Bertrand Isidor, Sophie Blesson, Jean-Hubert Caberg, Cindy Skinner, Emanuela Avola, Charles Perrine, Paolo Prontera, Susan Zeesman, Małgorzata J.M. Nowaczyk, Kate Pope, Lucilla Pizzo, David J. Amor, Boris Keren, Matthew Jensen, Katrin Männik, Patrick Callier, Pawel Stankiewicz, Damian Pazuchanics, Els Voorhoeve, Ornella Galesi, Joris Andrieux, Lucia Castiglia, Anne Laure Mosca-Boidron, Mathilde Lefebvre, Charles E. Schwartz, Santhosh Girirajan, Elizabeth McCready, Anke Van Dijck, Sandra Mercier, Maja Bucan, Corrado Romano, Laurence Faivre, Francesca Mari, Dominique Martin-Coignard, Vijay Kumar, Alessandra Renieri, Andrew Polyak, Emily Huber, Cédric Le Caignec, Aurora Currò, Olivier Pichon
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-018-0266-3⟩
Genetics in Medicine, 21(4), 816-825. Lippincott Williams and Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine, vol. 21, no. 4, pp. 816-825
Pizzo, L, Jensen, M, Polyak, A, Rosenfeld, J A, Mannik, K, Krishnan, A, McCready, E, Pichon, O, Le Caignec, C, Van Dijck, A, Pope, K, Voorhoeve, E, Yoon, J, Stankiewicz, P, Cheung, S W, Pazuchanics, D, Huber, E, Kumar, V, Kember, R L, Mari, F, Curró, A, Castiglia, L, Galesi, O, Avola, E, Mattina, T, Fichera, M, Mandarà, L, Vincent, M, Nizon, M, Mercier, S, Bénéteau, C, Blesson, S, Martin-Coignard, D, Mosca-Boidron, A L, Caberg, J H, Bucan, M, Zeesman, S, Nowaczyk, M J M, Lefebvre, M, Faivre, L, Callier, P, Skinner, C, Keren, B, Perrine, C, Prontera, P, Marle, N, Renieri, A, Reymond, A, Kooy, R F, Isidor, B, Schwartz, C, Romano, C, Sistermans, E, Amor, D J, Andrieux, J & Girirajan, S 2019, ' Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants ', Genetics in Medicine, vol. 21, no. 4, pp. 816-825 . https://doi.org/10.1038/s41436-018-0266-3
Genetics in medicine
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-018-0266-3⟩
Genetics in Medicine, 21(4), 816-825. Lippincott Williams and Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine, vol. 21, no. 4, pp. 816-825
Pizzo, L, Jensen, M, Polyak, A, Rosenfeld, J A, Mannik, K, Krishnan, A, McCready, E, Pichon, O, Le Caignec, C, Van Dijck, A, Pope, K, Voorhoeve, E, Yoon, J, Stankiewicz, P, Cheung, S W, Pazuchanics, D, Huber, E, Kumar, V, Kember, R L, Mari, F, Curró, A, Castiglia, L, Galesi, O, Avola, E, Mattina, T, Fichera, M, Mandarà, L, Vincent, M, Nizon, M, Mercier, S, Bénéteau, C, Blesson, S, Martin-Coignard, D, Mosca-Boidron, A L, Caberg, J H, Bucan, M, Zeesman, S, Nowaczyk, M J M, Lefebvre, M, Faivre, L, Callier, P, Skinner, C, Keren, B, Perrine, C, Prontera, P, Marle, N, Renieri, A, Reymond, A, Kooy, R F, Isidor, B, Schwartz, C, Romano, C, Sistermans, E, Amor, D J, Andrieux, J & Girirajan, S 2019, ' Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants ', Genetics in Medicine, vol. 21, no. 4, pp. 816-825 . https://doi.org/10.1038/s41436-018-0266-3
Genetics in medicine
Purpose: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants. Methods: We analyzed quantitative cl
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:
Jennifer E. Posey, Arthur Sorlin, Fatema Al Zahrani, Jérôme Govin, Nathalie Marle, Thomas Besnard, Anne-Sophie Denommé-Pichon, Sebastien Moutton, Jill A. Madden, Patrick Callier, Christophe Philippe, Eleina M. England, Julian Delanne, Benjamin Cogné, Ange-Line Bruel, Pankaj B. Agrawal, Maria Iascone, Tabib Dabir, Solène Conrad, Thierry Gautier, Quentin Thomas, Nebal Waill Saadi, Lydie Burglen, Laurence Duplomb, Fowzan S. Alkuraya, Yannis Duffourd, Sylvie Nguyen, Siddharth Banka, Dana Marafi, Marjolaine Willems, Christel Thauvin-Robinet, Philippine Garret, Laurence Faivre, Frédéric Tran Mau-Them, Antonio Vitobello, James R. Lupski, Adam Jackson, Diana Rodriguez, Alice Masurel, Romano Tenconi, Martin Chevarin, Bertand Isidor
Publikováno v:
Genetics in Medicine
Thomas, Q, Gautier, T, Marafi, D, Besnard, T, Willems, M, Moutton, S, Isidor, B, Cogné, B, Conrad, S, Tenconi, R, Iascone, M, Sorlin, A, Masurel, A, Dabir, T, Jackson, A, Banka, S, Delanne, J, Lupski, J R, Saadi, N W, Alkuraya, F S, Zahrani, F A, Agrawal, P B, England, E, Madden, J A, Posey, J E, Burglen, L, Rodriguez, D, Chevarin, M, Nguyen, S, Mau-Them, F T, Duffourd, Y, Garret, P, Bruel, A-L, Callier, P, Marle, N, Denomme-Pichon, A-S, Duplomb, L, Philippe, C, Thauvin-Robinet, C, Govin, J, Faivre, L & Vitobello, A 2021, ' Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-021-01218-6
Thomas, Q, Gautier, T, Marafi, D, Besnard, T, Willems, M, Moutton, S, Isidor, B, Cogné, B, Conrad, S, Tenconi, R, Iascone, M, Sorlin, A, Masurel, A, Dabir, T, Jackson, A, Banka, S, Delanne, J, Lupski, J R, Saadi, N W, Alkuraya, F S, Zahrani, F A, Agrawal, P B, England, E, Madden, J A, Posey, J E, Burglen, L, Rodriguez, D, Chevarin, M, Nguyen, S, Mau-Them, F T, Duffourd, Y, Garret, P, Bruel, A-L, Callier, P, Marle, N, Denomme-Pichon, A-S, Duplomb, L, Philippe, C, Thauvin-Robinet, C, Govin, J, Faivre, L & Vitobello, A 2021, ' Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-021-01218-6
PURPOSE: ADP ribosylation factor guanine nucleotide exchange factors (ARFGEFs) are a family of proteins implicated in cellular trafficking between the Golgi apparatus and the plasma membrane through vesicle formation. Among them is ARFGEF1/BIG1, a pr
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:
Stéphane Triau, Christel Thauvin-Robinet, Julien Thevenon, Guillaume Captier, David Geneviève, Audrey Putoux, Yannis Duffourd, Delphine Héron, Patrick Callier, Mirna Assoum, Laurence Faivre, Daphné Lehalle, Patrick Edery, Alice Goldenberg, Sarah Grotto, Bettina Bessières, Catherine Vincent-Delorme, Ange-Line Bruel, Hülya Kayserili, Christelle Cabrol, Nursel Elcioglu, Geneviève Baujat, Myriam Vezain, Alice Masurel, Massimiliano Rossi, Umut Altunoglu, Pierre Vabres, Pascale Saugier-Veber, Sandrine Marlin
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2018, 176 (12), pp.2740-2750. ⟨10.1002/ajmg.a.40662⟩
American Journal of Medical Genetics Part A, 2018, 176 (12), pp.2740-2750. ⟨10.1002/ajmg.a.40662⟩
American Journal of Medical Genetics Part A, Wiley, 2018, 176 (12), pp.2740-2750. ⟨10.1002/ajmg.a.40662⟩
American Journal of Medical Genetics Part A, 2018, 176 (12), pp.2740-2750. ⟨10.1002/ajmg.a.40662⟩
IF 2.264; International audience; The oculoauriculofrontonasal syndrome (OAFNS) is a rare disorder characterized by the association of frontonasal dysplasia (widely spaced eyes, facial cleft, and nose abnormalities) and oculo-auriculo-vertebral spect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed85d9dcbee7c7e221189cbeb14ae4d7
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02005698
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02005698
Autor:
Jeanne Amiel, Sophie Julia, Catherine Vincent-Delorme, Christel Thauvin-Robinet, Paul Kuentz, Salima El Chehadeh, Stanislas Lyonnet, Bruno Leheup, Elodie Gautier, Odile Boute-Benejean, Nathalie Le Meur, Sandrine Marlin, Irène François, Delphine Héron, Marianne Till, Patrick Edery, Houda Karmous Benailly, Serge Romana, Nicole Philip, Patrick Callier, Valérie Cormier-Daire, Bénédicte Héron, Adeline Vigouroux-Castera, Mathilde Lefebvre, Chantal Missirian, Sylvie Odent, Fanny Morice-Picard, Roseline Caumes, Dominique Martin, Cédric Le Caignec, Nicolas Chassaing, Claire Benneteau, Anne-Laure Mosca-Boidron, Claude Ferrec, Anne-Marie Guerrot, Sylvie Manouvrier-Hanu, Eva Piparas, Damien Sanlaville, Florence Petit, Stéphanie Arpin, Sébastien Moutton, Marie-Pierre Alex-Cordier, Elodie Cretin, Laurence Faivre, Sabine Sigaudy, Tiffany Busa, Brigitte Gilbert-Dussardier, Sandra Chantot-Bastaraud, Julien Thevenon, Alexandra Afenjar, Annick Toutain, Boris Keren, Anne Philippe, Valérie Malan, Laetitia Lambert, Sandra Mercier, Elise Schaefer, James Lespinasse, Nathalie Marle, Sylvia Redon, Fabienne Giuliano, Isabelle Mortemousque, Philippe Khau Van Kien, Pierre Bitoun, Alice Goldenberg, Sophie Blesson, Michèle Marti-Dramard
Publikováno v:
Clinical Genetics. 89:630-635
Microarray-based comparative genomic hybridization (aCGH) is commonly used in diagnosing patients with intellectual disability (ID) with or without congenital malformation. Because aCGH interrogates with the whole genome, there is a risk of being con
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