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Revista de Antropología Social, ISSN 1131-558X, 12/2018, Volume 27, Issue 2, pp. 381 - 389
As homage to Françoise Héritier’s career, this article reviews –in a necessarily brief way– her professional trajectory, and ethnographic and anthropological... 
dominación masculina | mujer | universalidad | Héritier | cuerpo humano
Journal Article
Revista de Antropología Social, ISSN 1131-558X, 12/2018, Volume 27, Issue 2
Journal Article
Revista de Antropología Social, ISSN 1131-558X, 01/2018, Volume 27, Issue 2, p. 381
A modo de homenaje a la carrera profesional de Françoise Héritier, el artículo repasa de manera necesariamente escueta su trayectoria y aportaciones... 
Journal Article
PLoS Genetics, ISSN 1553-7390, 09/2014, Volume 10, Issue 9, p. e1004580
Journal Article
by Leblond, Claire S and Heinrich, Jutta and Delorme, Richard and Proepper, Christian and Betancur, Catalina and Huguet, Guillaume and Konyukh, Marina and Chaste, Pauline and Ey, Elodie and Rastam, Maria and Anckarsäter, Henrik and Nygren, Gudrun and Gillberg, I. Carina and Melke, Jonas and Toro, Roberto and Regnault, Beatrice and Fauchereau, Fabien and Mercati, Oriane and Lemière, Nathalie and Skuse, David and Poot, Martin and Holt, Richard and Monaco, Anthony P and Järvelä, Irma and Kantojärvi, Katri and Vanhala, Raija and Curran, Sarah and Collier, David A and Bolton, Patrick and Chiocchetti, Andreas and Klauck, Sabine M and Poustka, Fritz and Freitag, Christine M and Waltes, Regina and Kopp, Marnie and Duketis, Eftichia and Bacchelli, Elena and Minopoli, Fiorella and Ruta, Liliana and Battaglia, Agatino and Mazzone, Luigi and Maestrini, Elena and Sequeira, Ana F and Oliveira, Barbara and Vicente, Astrid and Oliveira, Guiomar and Pinto, Dalila and Scherer, Stephen W and Zelenika, Diana and Delepine, Marc and Lathrop, Mark and Bonneau, Dominique and Guinchat, Vincent and Devillard, Françoise and Assouline, Brigitte and Mouren, Marie-Christine and Leboyer, Marion and Gillberg, Christopher and Boeckers, Tobias M and Bourgeron, Thomas and Gillberg Neuropsychiatry Centre and Göteborgs universitet and Gothenburg University and Institutionen för neurovetenskap och fysiologi, sektionen för farmakologi and Gillbergcentrum and Sahlgrenska Academy and Sahlgrenska akademin and Institute of Neuroscience and Physiology, Department of Pharmacology
PLoS Genetics, ISSN 1553-7390, 02/2012, Volume 8, Issue 2, p. e1002521
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in... 
15Q13.3 MICRODELETIONS | SNP GENOTYPING DATA | DE-NOVO MUTATIONS | MENTAL-RETARDATION | HIDDEN-MARKOV MODEL | SCAFFOLDING PROTEIN SHANK3 | GENETICS & HEREDITY | RECURRENT MICRODELETIONS | PSYCHIATRIC-DISORDERS | POSTSYNAPTIC DENSITY | COPY-NUMBER VARIATION | Humans | Child, Preschool | Male | Neurons - cytology | Synapses - genetics | Synapses - pathology | Tissue Distribution | Protein Isoforms - metabolism | Adult | Female | Child | Cell Line | Gene Dosage - genetics | Receptors, Nicotinic - metabolism | RNA Splice Sites - genetics | Alternative Splicing - genetics | Gene Expression Regulation | Nerve Tissue Proteins - genetics | Child Development Disorders, Pervasive - genetics | Adaptor Proteins, Signal Transducing - genetics | Adaptor Proteins, Signal Transducing - metabolism | Receptors, Nicotinic - genetics | Protein Isoforms - genetics | Sequence Deletion - genetics | alpha7 Nicotinic Acetylcholine Receptor | Autism | Gene mutations | Physiological aspects | Genetic aspects | Research | Risk factors | Prevalence studies (Epidemiology) | Medical research | Genetics | Mutation | Genes | Sequence Deletion | RNA Splice Sites | Receptors, Nicotinic | Alternative Splicing | Neurons | Nerve Tissue Proteins | Gene Dosage | Life Sciences | Adaptor Proteins, Signal Transducing | Protein Isoforms | Child Development Disorders, Pervasive | Synapses | Pervasive | Cytology | Child Development Disorders | Receptors | Psykiatri | Preschool | Metabolism | Adaptor Proteins | Nicotinic | Pathology | Signal Transducing | Psychiatry
Journal Article
by Schluth-Bolard, Caroline and Diguet, Flavie and Chatron, Nicolas and Rollat-Farnier, Pierre-Antoine and Bardel, Claire and Afenjar, Alexandra and Amblard, Florence and Amiel, Jeanne and Blesson, Sophie and Callier, Patrick and Capri, Yline and Collignon, Patrick and Cordier, Marie-Pierre and Coubes, Christine and Demeer, Benedicte and Chaussenot, Annabelle and Demurger, Florence and Devillard, Françoise and Doco-Fenzy, Martine and Dupont, Céline and Dupont, Jean-Michel and Dupuis-Girod, Sophie and Faivre, Laurence and Gilbert-Dussardier, Brigitte and Guerrot, Anne-Marie and Houlier, Marine and Isidor, Bertrand and Jaillard, Sylvie and Joly-Hélas, Géraldine and Kremer, Valérie and Lacombe, Didier and Le Caignec, Cédric and Lebbar, Aziza and Lebrun, Marine and Lesca, Gaetan and Lespinasse, James and Levy, Jonathan and Malan, Valérie and Mathieu-Dramard, Michele and Masson, Julie and Masurel-Paulet, Alice and Mignot, Cyril and Missirian, Chantal and Morice-Picard, Fanny and Moutton, Sébastien and Nadeau, Gwenaël and Pebrel-Richard, Céline and Odent, Sylvie and Paquis-Flucklinger, Véronique and Pasquier, Laurent and Philip, Nicole and Plutino, Morgane and Pons, Linda and Portnoï, Marie-France and Prieur, Fabienne and Puechberty, Jacques and Putoux, Audrey and Rio, Marlène and Rooryck-Thambo, Caroline and Rossi, Massimiliano and Sarret, Catherine and Satre, Véronique and Siffroi, Jean-Pierre and Till, Marianne and Touraine, Renaud and Toutain, Annick and Toutain, Jérome and Valence, Stéphanie and Verloes, Alain and Whalen, Sandra and Edery, Patrick and Tabet, Anne-Claude and Sanlaville, Damien
Journal of Medical Genetics, ISSN 0022-2593, 08/2019, Volume 56, Issue 8, pp. 526 - 535
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2016, Volume 170, Issue 1, pp. 116 - 129
Journal Article
Human Mutation, ISSN 1059-7794, 2012, Volume 33, Issue 1, pp. 64 - 72
Journal Article
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 | RETT-SYNDROME | SEVERE MENTAL-RETARDATION | RECURRENT INFECTIONS | XQ28 DUPLICATIONS | GENETICS & HEREDITY | FEMALES | HIRSCHSPRUNGS-DISEASE | MUTATIONS | GENE COPY NUMBER | FILAMIN-A | Life Sciences | Genetics | Human genetics
Journal Article
Soins Pediatrie/Puericulture, ISSN 1259-4792, 05/2018, Volume 39, Issue 302, pp. 36 - 39
The life expectancy of people with trisomy 21 has increased over recent decades. More than half live over 55 years today, compared to just 9 years in 1929.... 
complication | specialised consultation | care pathway | trisomy 21 | physical activity
Journal Article
Soins. Pediatrie, puericulture, ISSN 1259-4792, 05/2018, Volume 39, Issue 302, p. 36
The life expectancy of people with trisomy 21 has increased over recent decades. More than half live over 55 years today, compared to just 9 years in 1929.... 
Journal Article