المؤلفون: Manoëlle, Kossorotoff, Basile, Kerleroux, Grégoire, Boulouis, Béatrice, Husson, Kim, Tran Dong, François, Eugene, Lena, Damaj, Augustin, Ozanne, Céline, Bellesme, Anne, Rolland, Romain, Bourcier, Aude, Triquenot-Bagan, Gaultier, Marnat, Jean-Philippe, Neau, Sylvie, Joriot, Alexandra, Perez, Maud, Guillen, Maximilien, Perivier, Frederique, Audic, Jean François, Hak, Christian, Denier, Olivier, Naggara, Denis, Herbreteaux

المصدر: JAMA network open. 5(9)

مصطلحات موضوعية: Adult, Male, Endovascular Procedures, Infant, Newborn, General Medicine, United States, Brain Ischemia, Cohort Studies, Stroke, Humans, Child, Cerebral Hemorrhage, Ischemic Stroke, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d16e9e4c1218495d7a82f7a54c8f4b5
https://pubmed.ncbi.nlm.nih.gov/36107427

المؤلفون: Thomas Wirth, Giacomo Garone, Manju A. Kurian, Amélie Piton, Francisca Millan, Aida Telegrafi, Nathalie Drouot, Gabrielle Rudolf, Jamel Chelly, Warren Marks, Lydie Burglen, Diane Demailly, Phillipe Coubes, Mayte Castro‐Jimenez, Sylvie Joriot, Jamal Ghoumid, Jérémie Belin, Jean‐Marc Faucheux, Lubov Blumkin, Mariam Hull, Mered Parnes, Claudia Ravelli, Gaëtan Poulen, Nadège Calmels, Andrea H. Nemeth, Martin Smith, Angela Barnicoat, Claire Ewenczyk, Aurélie Méneret, Emmanuel Roze, Boris Keren, Cyril Mignot, Christophe Beroud, Fernando Acosta, Catherine Nowak, William G. Wilson, Dora Steel, Alessandro Capuano, Marie Vidailhet, Jean‐Pierre Lin, Christine Tranchant, Laura Cif, Diane Doummar, Mathieu Anheim

المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: MOVEMENT DISORDERS
MOVEMENT DISORDERS, 2022, 37 (7), pp.1547-1554. ⟨10.1002/mds.29074⟩

مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics, Dystonia, Movement Disorders, Phenotype, Neurology, Parkinsonian Disorders, Dystonic Disorders, Humans, Neurology (clinical), GTP-Binding Protein alpha Subunits, Gi-Go

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a419c9cf727eb83b1be54bf8ebbace2
https://pubmed.ncbi.nlm.nih.gov/35722775

المؤلفون: Laurence Chaton, Emilie Bourel-Ponchel, Marie-Dominique Lamblin, Sylvie Joriot, Laure Lacan, Philippe Derambure, Sylvie Nguyen, Florence Flamein

المصدر: Neurophysiologie Clinique. 53:102883

مصطلحات موضوعية: Neurology, Physiology (medical), Neurology (clinical), General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ae05ed6851315e2dc3a125cf67c6e6d7
https://doi.org/10.1016/j.neucli.2023.102883

المؤلفون: Morgane Billotte, Valérie Deken, Sylvie Joriot, Guy Vaksmann, Adélaïde Richard, Ivan Bouzguenda, François Godart, Jean-Benoit Baudelet, Thameur Rakza, Sylvie Nguyen The Tich, Marie-Paule Guillaume

المصدر: European journal of pediatrics. 180(4)

مصطلحات موضوعية: Adult, Heart Defects, Congenital, Pediatrics, medicine.medical_specialty, Heart disease, Disease, 030204 cardiovascular system & hematology, Logistic regression, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Surveys and Questionnaires, Developmental care, medicine, Humans, Mass Screening, 030212 general & internal medicine, Trial registration, Child, Social adaptation, business.industry, medicine.disease, Family life, 3. Good health, Neurodevelopmental Disorders, Pediatrics, Perinatology and Child Health, Observational study, Care program, Cardiology and Cardiovascular Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e28d469fc5eb4251ac3ec886d0973d7c
https://pubmed.ncbi.nlm.nih.gov/33119792

المؤلفون: Florence Feucht, Cindy Colson, Veronique Debarge, Maryse Bonniere, Pascal Vaast, Ouardia Mamouri, Sylvie Joriot

المصدر: European Journal of Obstetrics & Gynecology and Reproductive Biology. 236:252-254

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Reproductive Medicine, business.industry, Amniotic Band, medicine, Polymicrogyria, Obstetrics and Gynecology, business, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::36434892326924e75cfe55a1f201517c
https://doi.org/10.1016/j.ejogrb.2019.03.015

المؤلفون: Thameur Rakza, Sophie Gautier, Véronique Houfflin-Debarge, G. Chevalier, Sylvie Joriot

المصدر: Journal of Gynecology Obstetrics and Human Reproduction. 47:573-575

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Substance-Related Disorders, Hydrops Fetalis, MEDLINE, Gestational Age, Prenatal care, Aortic Coarctation, Ultrasonography, Prenatal, Cocaine-Related Disorders, Tobacco Use, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Hypoplastic Left Heart Syndrome, Humans, Medicine, Oxazolidinones, Cannabis, Fetus, Epilepsy, 030219 obstetrics & reproductive medicine, business.industry, Obstetrics, Infant, Newborn, Pregnancy Outcome, Obstetrics and Gynecology, Gestational age, Prenatal Care, Prognosis, medicine.disease, Pregnancy Complications, Alcoholism, Reproductive Medicine, Fetal Alcohol Spectrum Disorders, Polysubstance dependence, 030220 oncology & carcinogenesis, Hypoplastic left heart, Female, Ultrasonography, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f49a6d59a32b02b1cdec3745cafa65c7
https://doi.org/10.1016/j.jogoh.2018.09.002

المؤلفون: Véronique Houfflin-Debarge, T. Fourquet, Charles Garabedian, Sylvie Joriot, C. Coulon, P. Verpillat, Pascal Vaast, Louise Ghesquiere

المصدر: European journal of obstetrics, gynecology, and reproductive biology. 228

مصطلحات موضوعية: medicine.medical_specialty, Neuroimaging, Fetal brain, 03 medical and health sciences, 0302 clinical medicine, Fetal anemia, Pregnancy, Hydrops fetalis, medicine, Fetal mri, Humans, 030212 general & internal medicine, Intrauterine transfusion, Retrospective Studies, 030219 obstetrics & reproductive medicine, Obstetrics, business.industry, Ultrasound, Obstetrics and Gynecology, Brain, Anemia, medicine.disease, Magnetic Resonance Imaging, Fetal Diseases, Reproductive Medicine, Female, Hemoglobin, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40fcda79da46619690d1b1792687dff7
https://pubmed.ncbi.nlm.nih.gov/29902780

المؤلفون: Hélène Tubeuf, Vincent El Ghouzzi, Sylvie Joriot, Amanda Moccia, Lyn S. Chitty, Sandrine Passemard, Pierre Gressens, Alain Verloes, Brian Harding, Séverine Drunat, Ferdinando Di Cunto, Omar Soukarieh, Stephanie L. Bielas, Alexandra Martins

المساهمون: Department of Pathology and Laboratory Medicine [Philadelphia, PA, USA], University of Pennsylvania [Philadelphia]-Perelman School of Medicine, University of Pennsylvania [Philadelphia], University of Michigan Medical School [Ann Arbor], University of Michigan [Ann Arbor], University of Michigan System-University of Michigan System, Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Génétique du cancer et des maladies neuropsychiatriques (GMFC), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Cardiac Unit, Institute of Child Health (UCL), University College of London [London] (UCL), Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Neuro-pédiatrie[Lille], Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), University of Turin, Children’s Hospital of Philadelphia (CHOP ), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Diderot - Paris 7 (UPD7), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université Paris Diderot - Paris 7 (UPD7), King‘s College London

المصدر: Harding, BN, Moccia, A, Drunat, S, Soukarieh, O, Tubeuf, H, Chitty, LS, Verloes, A, Gressens, P, El Ghouzzi, V, Joriot, S, Di Cunto, F, Martins, A, Passemard, S & Bielas, SL 2016, ' Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons ', American Journal of Human Genetics, vol. 99, no. 2, pp. 511–520 . https://doi.org/10.1016/j.ajhg.2016.07.003
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 99 (2), pp.511-520. ⟨10.1016/j.ajhg.2016.07.003⟩

مصطلحات موضوعية: 0301 basic medicine, Male, Microcephaly, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Neocortex, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], 0302 clinical medicine, Cerebellum, Cleavage furrow, Genetics(clinical), Child, Genetics (clinical), Genetics, Neurons, primary microcephaly, Neurogenesis, Autosomal, Intracellular Signaling Peptides and Proteins, autosomal recessive, 3. Good health, Cell biology, Midbody, neurogenesis, Female, lissencephaly, RNA Splicing, Lissencephaly, Genes, Recessive, cytokinesis, Biology, Protein Serine-Threonine Kinases, splicing mutation, 03 medical and health sciences, Report, citron kinase, medicine, Humans, Mitosis, Infant, Newborn, Infant, medicine.disease, Spindle apparatus, 030104 developmental biology, [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, 030217 neurology & neurosurgery, Cytokinesis

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ba16c588665aa42841cb751c282c46d
http://hdl.handle.net/2318/1610619

المؤلفون: Laurent Pasquier, Anne V. Snow, David T. Miller, Louise Harewood, Christina Triantafallou, Timothy P.L. Roberts, Leighton B. Hinkley, Zili Chu, Louis Vallée, Alyss Lian Cavanagh, Evica Rajcan-Separovic, Patricia Blanchet, Fiona Miller, Robin P. Goin-Kochel, Beau Reilly, Bettina Cerban, Vanessa Siffredi, Bridget A. Fernandez, Roger Vaughan, Brianna M. Paul, Fanny Morice-Picard, Elisabeth Flori, Dominique Campion, Gérard Didelot, Anne Philippe, Christa Lese Martin, Srikantan S. Nagarajan, Joris Andrieux, Jacques Puechberty, Marie Pierre Cordier, Jill V. Hunter, Ellen van Binsbergen, Catherine Vincent-Delorme, Vivek Swarnakar, Jean Marie Cuisset, Monica Proud, Patrick Callier, Bert B.A. de Vries, Jeffrey I. Berman, Sarah J. Spence, Alexandra Bowe, Wendy K. Chung, Katy Ankenman, Katherine Hines, Sarah E. Gobuty, Philippe Jonveaux, Lisa Blaskey, Alice Goldenberg, Sylvie Jaillard, Alessandra Renieri, Anne M. Maillard, Tracy Luks, Lee Anne Green Snyder, Elliott H. Sherr, Sarah Y. Khan, Fabienne Prieur, Simon A. Zwolinski, Andres Metspalu, Ghislaine Plessis, Jean Chiesa, Rita J. Jeremy, Valérie Malan, Michèle Mathieu-Dramard, Loyse Hippolyte, Bethanny Smith-Packard, Andrea M. Paal, Bénédicte Duban Bedu, Claudine Rieubland, Jordan Burko, Sylvie Joriot, Philippe Conus, Dominique Bonneau, Benoit Arveiler, Nicole de Leeuw, Allison G. Dempsey, John E. Spiro, Julia Wenegrat, Bertrand Isidor, Cédric Le Caignec, Kyle J. Steinman, Bruno Delobel, Ashlie Llorens, Jacques S. Beckmann, Kelly Johnson, Sean Ackerman, Polina Bukshpun, Silvia Garza, Alexandre Reymond, Damien Sanlaville, Ellen Hanson, Martine Doco-Fenzy, Jacques Thonney, Mari Wakahiro, Juliane Hoyer, Jacqueline Vigneron, Katrin Õunap, Arthur L. Beaudet, Mandy Barker, Nicole Visyak, Sonia Bouquillon, W. Andrew Faucett, Raphael Bernier, Sudha Kilaru Kessler, Audrey Lynn Bibb, Dennis Shaw, R. Frank Kooy, Suzanne M E Lewis, Anna L. Laakman, Nicholas J. Pojman, Hubert Journel, Laura Bernardini, Arianne Stevens, Julia P. Owen, Rebecca Mc Nally Keehn, Stéphanie Selmoni, Sébastien Lebon, Aurélien Macé, Bruno Leheup, Saba Qasmieh, Zoltán Kutalik, Anita Rauch, Yiping Shen, Elysa J. Marco, Nathalie Van der Aa, Carina Ferrari, Noam D. Beckmann, Delphine Héron, Jennifer Tjernage, Benjamin Aaronson, Albert David, Marie Pierre Lemaitre, Muriel Holder, Eve Õiglane-Shlik, Anneke T. Vulto-van Silfhout, Flore Zufferey, Constance Atwell, Marta Benedetti, Ellen Grant, Jenna Elgin, Patricia Z. Page, Caroline Rooryck, Randy L. Buckner, Qixuan Chen, Laurence Faivre, Sébastien Jacquemont, Kerri P. Nowell, Florence Fellmann, Disciglio Vittoria, Katharina Magdalena Rötzer, Hana Lee, Alastair J. Martin, Marion Greenup, David H. Ledbetter, Katrin Männik, Morgan W. Lasala, Jennifer Gerdts, Hanalore Alupay, Florence Petit, Elizabeth Aylward, Gerald D. Fischbach, Mafalda Mucciolo, Maxwell Cheong, Gabriela Marzano, Frédérique Béna, Danielle Martinet, Timothy J. Moss, Odile Boute, Jennifer Olson, Marco Belfiore, Christina Fagerberg, Corby L. Dale, Robert M. Witwicki, Yolanda L. Evans, Melissa B. Ramocki, Marie-Claude Addor, Christèle Dubourg, Mariken Ruiter, Tuhin K. Sinha, Mieke M. van Haelst, Alan Packer, Kathleen E. McGovern, Christie M. Brewton, Stephen M. Kanne, Richard I. Fisher, Tracey Ward, Sophie Dupuis-Girod, Pratik Mukherjee

المساهمون: Simons VIP Consortium, 16p11.2 European Consortium, Addor, MC., Arveiler, B., Belfiore, M., Bena, F., Bernardini, L., Blanchet, P., Bonneau, D., Boute, O., Callier, P., Campion, D., Chiesa, J., Cordier, MP., Cuisset, JM., David, A., de Leeuw, N., de Vries, B., Didelot, G., Doco-Fenzy, M., Bedu, BD., Dubourg, C., Dupuis-Girod, S., Fagerberg, CR., Faivre, L., Fellmann, F., Fernandez, BA., Fisher, R., Flori, E., Goldenberg, A., Heron, D., Holder, M., Hoyer, J., Isidor, B., Jaillard, S., Jonveaux, P., Joriot, S., Journel, H., Kooy, F., le Caignec, C., Leheup, B., Lemaitre, MP., Lewis, S., Malan, V., Mathieu-Dramard, M., Metspalu, A., Morice-Picard, F., Mucciolo, M., Oiglane-Shlik, E., Ounap, K., Pasquier, L., Petit, F., Philippe, A., Plessis, G., Prieur, F., Puechberty, J., Rajcan-Separovic, E., Rauch, A., Renieri, A., Rieubland, C., Rooryck, C., Rötzer, KM., Ruiter, M., Sanlaville, D., Selmoni, S., Shen, Y., Siffredi, V., Thonney, J., Vallée, L., van Binsbergen, E., Van der Aa, N., van Haelst MM., Vigneron, J., Vincent-Delorme, C., Vittoria, D., Vulto-van Silfhout AT., Witwicki, RM., Zwolinski, SA., Bowe, A., Beaudet, AL., Brewton, CM., Chu, Z., Dempsey, AG., Evans, YL., Garza, S., Kanne, SM., Laakman, AL., Lasala, MW., Llorens, AV., Marzano, G., Moss, TJ., Nowell, KP., Proud, MB., Chen, Q., Vaughan, R., Berman, J., Blaskey, L., Hines, K., Kessler, S., Khan, SY., Qasmieh, S., Bibb, AL., Paal, AM., Page, PZ., Smith-Packard, B., Buckner, R., Burko, J., Cavanagh, AL., Cerban, B., Snow, AV., Snyder, LG., Keehn, RM., Miller, DT., Miller, FK., Olson, JE., Triantafallou, C., Visyak, N., Atwell, C., Benedetti, M., Fischbach, GD., Greenup, M., Packer, A., Bukshpun, P., Cheong, M., Dale, C., Gobuty, SE., Hinkley, L., Jeremy, RJ., Lee, H., Luks, TL., Marco, EJ., Martin, AJ., McGovern, KE., Nagarajan, SS., Owen, J., Paul, BM., Pojman, NJ., Sinha, T., Swarnakar, V., Wakahiro, M., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Elgin, J., Gerdts, J., Johnson, K., Reilly, B., Shaw, D., Stevens, A., Ward, T., Wenegrat, J., Other departments, Service de génétique médicale, Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), CHU Pontchaillou [Rennes], Department of Medical Genetics, Université de Lausanne (UNIL), Centre de Génétique Chromosomique, Hôpital Saint Vincent de Paul-GHICL, Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Baylor University-Baylor University, Texas Children's Hospital [Houston, USA], Department of pediatrics, Primary palliative Care Research Group, Community Health Sciences, General Practice Section, University of Edinburgh, Center for Integrative Genomics - Institute of Bioinformatics, Génopode (CIG), Swiss Institute of Bioinformatics [Lausanne] (SIB), Université de Lausanne (UNIL)-Université de Lausanne (UNIL), Physiopathologie et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Developmental Brain and Behaviour Unit, University of Southampton, Institute of Molecular and Cell Biology, University of Tartu, Department of Human Genetics, UCLA, University of California [Los Angeles] (UCLA), University of California-University of California-Semel Institute, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Université de Lausanne = University of Lausanne (UNIL), Hôpital Saint Vincent de Paul-Groupement des Hôpitaux de l'Institut Catholique de Lille (GHICL), Université catholique de Lille (UCL)-Université catholique de Lille (UCL), Université de Lausanne = University of Lausanne (UNIL)-Université de Lausanne = University of Lausanne (UNIL), University of California (UC)-University of California (UC)-Semel Institute, Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Rennes (UR)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Kooy, Frank

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, vol. 49, no. 10, pp. 660-668
Journal of medical genetics, 49(10), 660-668. BMJ Publishing Group
Journal of Medical Genetics, BMJ Publishing Group, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of Medical Genetics, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of medical genetics
JOURNAL OF MEDICAL GENETICS

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Heterozygote, Adolescent, [SDV]Life Sciences [q-bio], Developmental Disabilities, Biology, Body Mass Index, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Gene Order, Genetics, medicine, Humans, Copy-number variation, Clinical genetics, Obesity, Young adult, Child, Genetics (clinical), 030304 developmental biology, Child Development Disorders, Pervasive/diagnosis, Child Development Disorders, Pervasive/genetics, Chromosome Deletion, Chromosomes, Human, Pair 16, Developmental Disabilities/diagnosis, Developmental Disabilities/genetics, Female, Intelligence Tests, Phenotype, Syndrome, 2. Zero hunger, Psychiatry, 0303 health sciences, Intelligence quotient, Neuropsychology, Complex traits, medicine.disease, Comorbidity, 3. Good health, Autism spectrum disorder, Child Development Disorders, Pervasive, Autism, Medical genetics, Human medicine, Copy-Number Variation, 030217 neurology & neurosurgery

وصف الملف: application/pdf; pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ea30c8d8ed101ea6de6cdb0eddb7b91
http://europepmc.org/articles/PMC3494011

المؤلفون: Joris Andrieux, Véronique David, Dominique Bonneau, Magalie Barth, Hubert Journel, Muriel Holder-Espinasse, Alice Goldenberg, Sylvie Jaillard, Aude Charollais, Thierry Frebourg, Nathalie Le Meur, Cécile Boucher, Sylvie Manouvrier-Hanu, Christèle Dubourg, Stéphane Auvin, Agnès Guichet, Sylvie Joriot, Pascale Saugier-Veber, Jean-Pierre Kerckaert, Patrizia Amati-Bonneau

المساهمون: Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Laboratoire de Cytogénétique, Etablissement français du sang - Normandie (EFS), Service de Génétique clinique, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institut de Génétique et Développement de Rennes (IGDR), Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Service de Neuropédiatrie, Hôpital Roger Salengro [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Mitochondrie : Régulations et Pathologie, Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Service de pédiatrie néonatale et réanimation - neuropédiatrie [CHU Rouen], Hôpital Charles Nicolle [Rouen]-CHU Rouen, Génétique Médicale, Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA)-Hôpital Chubert, Service de neurologie pédiatrique et maladies métaboliques, Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Plateforme de Génomique Fonctionnelle, Université de Lille, Droit et Santé, Service de biologie moléculaire, Hôpital Pontchaillou, Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques, Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Génétique Clinique, Hôpital Jeanne de Flandre [Lille]-Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS), Université de Rennes (UR)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Hôpital Charles Nicolle [Rouen], Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2010, 47 (1), pp.22-9. ⟨10.1136/jmg.2009.069732⟩
Journal of Medical Genetics, 2010, 47 (1), pp.22-9. ⟨10.1136/jmg.2009.069732⟩

مصطلحات موضوعية: MESH: Cerebrum, Haploidy, Epilepsy, 0302 clinical medicine, MESH: Child, MESH: Mental Retardation, MEF2C, Child, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), seizures, Genetics, 0303 health sciences, MEF2 Transcription Factors, MESH: Myogenic Regulatory Factors, MESH: Haploidy, MESH: Stereotypic Movement Disorder, MESH: Infant, Hypotonia, Stereotypic movement disorder, Myogenic Regulatory Factors, Child, Preschool, MESH: Epilepsy, Chromosomes, Human, Pair 5, Medical genetics, Chromosome Deletion, medicine.symptom, Haploinsufficiency, MESH: Chromosomes, Human, Pair 5, medicine.medical_specialty, MESH: Chromosome Deletion, 5q14.3 microdeletion, Nonsense mutation, Stereotypic Movement Disorder, MADS Domain Proteins, Biology, mental retardation, Article, MESH: MADS Domain Proteins, 03 medical and health sciences, Intellectual Disability, medicine, Humans, Cerebrum, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, MESH: Child, Preschool, Infant, medicine.disease, Developmental disorder, array-CGH, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13b1de3b4e94945354d9ea395e18d562
https://doi.org/10.1136/jmg.2009.069732