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Orphanet journal of rare diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 96 - 96
Journal Article
Journal Article
Pediatrics (Evanston), ISSN 1098-4275, 2011, Volume 128, Issue 1, pp. e152 - e159
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Journal Article
Nature genetics, ISSN 1546-1718, 2016, Volume 48, Issue 11, pp. 1359 - 1369
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Journal Article
Npj genomic medicine, ISSN 2056-7944, 2019, Volume 4, Issue 1, pp. 1 - 10
... Carton1,2,3,4, Guillaume Huguet1,2,3,4, Alexandre Mathieu1,2,3,4, Thomas Kergrohen1,2,3,4, Julien Buratti1,2,3,4, Nathalie Lemière1,2,3,4, Laurence Cuisset5, Thierry... 
Autism | Life Sciences | Genetics | Human genetics | Psykiatri | Psychiatry
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by Miguet, Marguerite and Faivre, Laurence and Amiel, Jeanne and Nizon, Mathilde and Touraine, Renaud and Prieur, Fabienne and Pasquier, Laurent and Lefebvre, Mathilde and Thevenon, Julien and Dubourg, Christèle and Julia, Sophie and Sarret, Catherine and Remerand, Ganaëlle and Francannet, Christine and Laffargue, Fanny and Boespflug-Tanguy, Odile and David, Albert and Isidor, Bertrand and Vigneron, Jacqueline and Leheup, Bruno and Lambert, Laetitia and Philippe, Christophe and Béri-Dexheimer, Mylène and Cuisset, Jean-Marie and Andrieux, Joris and Plessis, Ghislaine and Toutain, Annick and Guibaud, Laurent and Cormier-Daire, Valérie and Rio, Marlene and Bonnefont, Jean-Paul and Echenne, Bernard and Journel, Hubert and Burglen, Lydie and Chantot-Bastaraud, Sandrine and Bienvenu, Thierry and Baumann, Clarisse and Perrin, Laurence and Drunat, Séverine and Jouk, Pierre-Simon and Dieterich, Klaus and Devillard, Françoise and Lacombe, Didier and Philip, Nicole and Sigaudy, Sabine and Moncla, Anne and Missirian, Chantal and Badens, Catherine and Perreton, Nathalie and Thauvin-Robinet, Christel and AChro-Puce, Réseau and Pedespan, Jean-Michel and Rooryck, Caroline and Goizet, Cyril and Vincent-Delorme, Catherine and Duban-Bedu, Bénédicte and Bahi-Buisson, Nadia and Afenjar, Alexandra and Maincent, Kim and Héron, Delphine and Alessandri, Jean-Luc and Martin-Coignard, Dominique and Lesca, Gaëtan and Rossi, Massimiliano and Raynaud, Martine and Callier, Patrick and Mosca-Boidron, Anne-Laure and Marle, Nathalie and Coutton, Charles and Satre, Véronique and Caignec, Cédric Le and Malan, Valérie and Romana, Serge and Keren, Boris and Tabet, Anne-Claude and Kremer, Valérie and Scheidecker, Sophie and Vigouroux, Adeline and Lackmy-Port-Lis, Marilyn and Sanlaville, Damien and Till, Marianne and Carneiro, Maryline and Gilbert-Dussardier, Brigitte and Willems, Marjolaine and Van Esch, Hilde and Portes, Vincent Des and El Chehadeh, Salima
Journal of Medical Genetics, ISSN 0022-2593, 06/2018, Volume 55, Issue 6, pp. 359 - 371
The Xq28 duplication involving the MECP2 gene (MECP2 duplication) has been mainly described in male patients with severe developmental delay (DD) associated... 
X-linked | genetic counselling | MECP2duplication syndrome | Xq28 duplication | MECP2gene | facial dysmorphism | INCLUDING MECP2 | MENTAL-RETARDATION | RETT-SYNDROME | ABNORMALITIES | XQ28 | MUTATION | GENETICS & HEREDITY | FEMALES | HIRSCHSPRUNGS-DISEASE | GENE COPY NUMBER | FILAMIN-A | Life Sciences | Genetics | Human genetics
Journal Article
Seminars in Arthritis and Rheumatism, ISSN 0049-0172, 2012, Volume 42, Issue 3, pp. 327 - 331
Journal Article
by Jacquemont, Sébastien and Reymond, Alexandre and Zufferey, Flore and Harewood, Louise and Walters, Robin G and Kutalik, Zoltán and Martinet, Danielle and Shen, Yiping and Valsesia, Armand and Beckmann, Noam D and Thorleifsson, Gudmar and Belfiore, Marco and Bouquillon, Sonia and Campion, Dominique and de Leeuw, Nicole and de Vries, Bert B. A and Esko, Tõnu and Fernandez, Bridget A and Fernández-Aranda, Fernando and Fernández-Real, José Manuel and Gratacòs, Mònica and Guilmatre, Audrey and Hoyer, Juliane and Jarvelin, Marjo-Riitta and Frank Kooy, R and Kurg, Ants and Le Caignec, Cédric and Männik, Katrin and Platt, Orah S and Sanlaville, Damien and Van Haelst, Mieke M and Villatoro Gomez, Sergi and Walha, Faida and Wu, Bai-lin and Yu, Yongguo and Aboura, Azzedine and Addor, Marie-Claude and Alembik, Yves and Antonarakis, Stylianos E and Arveiler, Benoît and Barth, Magalie and Bednarek, Nathalie and Béna, Frédérique and Bergmann, Sven and Beri, Mylène and Bernardini, Laura and Blaumeiser, Bettina and Bonneau, Dominique and Bottani, Armand and Boute, Odile and Brunner, Han G and Cailley, Dorothée and Callier, Patrick and Chiesa, Jean and Chrast, Jacqueline and Coin, Lachlan and Coutton, Charles and Cuisset, Jean-Marie and Cuvellier, Jean-Christophe and David, Albert and de Freminville, Bénédicte and Delobel, Bruno and Delrue, Marie-Ange and Demeer, Bénédicte and Descamps, Dominique and Didelot, Gérard and Dieterich, Klaus and Disciglio, Vittoria and Doco-Fenzy, Martine and Drunat, Séverine and Duban-Bedu, Bénédicte and Dubourg, Christèle and El-Sayed Moustafa, Julia S and Elliott, Paul and Faas, Brigitte H. W and Faivre, Laurence and Faudet, Anne and Fellmann, Florence and Ferrarini, Alessandra and Fisher, Richard and Flori, Elisabeth and Forer, Lukas and Gaillard, Dominique and Gerard, Marion and Gieger, Christian and Gimelli, Stefania and Gimelli, Giorgio and Grabe, Hans J and Guichet, Agnès and Guillin, Olivier and Hartikainen, Anna-Liisa and Heron, Délphine and Hippolyte, Loyse and Holder, Muriel and Homuth, Georg and Isidor, Bertrand and Jaillard, Sylvie and Jaros, Zdenek and Jiménez-Murcia, Susana and Joly Helas, Géraldine and ...
Nature (London), ISSN 1476-4687, 2011, Volume 478, Issue 7367, pp. 97 - 102
Both obesity and being underweight have been associated with increased mortality. Underweight, defined as a body mass index (BMI) DEPENDENT PROBE AMPLIFICATION | FAILURE-TO-THRIVE | METABOLIC SYNDROME | RELATIVE QUANTIFICATION | SNP GENOTYPING DATA | HIDDEN-MARKOV MODEL | MULTIDISCIPLINARY SCIENCES | BODY-MASS INDEX | TIME QUANTITATIVE PCR | COPY NUMBER VARIATION | CIRCULAR BINARY SEGMENTATION | Humans | Middle Aged | Child, Preschool | RNA, Messenger - analysis | Head - anatomy & histology | Infant | Male | Developmental Disabilities - genetics | Gene Expression Profiling | North America | Obesity - genetics | Case-Control Studies | Young Adult | Mental Disorders - genetics | Aging | Gene Duplication - genetics | Adult | Female | Transcription, Genetic | Energy Metabolism - genetics | Child | Infant, Newborn | Chromosomes, Human, Pair 16 - genetics | Body Mass Index | Gene Dosage - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Europe | RNA, Messenger - genetics | Mutation - genetics | Body Height - genetics | Thinness - genetics | Phenotype | Comparative Genomic Hybridization | Adolescent | Heterozygote | Aged | Cohort Studies | Sequence Deletion - genetics | Obesity | Chromosome mapping | Usage | Genetic variation | Genetic aspects | Cognition disorders | Research | Risk factors | Schizophrenia | Gender | Behavior | Gene expression | Bias | Life Sciences | Human health and pathology | Genetics | Endocrinology and metabolism | Gene Duplication | Developmental Disabilities | Sequence Deletion | Thinness | genetics | Genetic Predisposition to Disease | Head | Gene Dosage | analysis | Energy Metabolism | Mental Disorders | Chromosomes, Human, Pair 16 | Body Height | Mutation | anatomy & histology | RNA, Messenger
Journal Article