المؤلفون: Monique Elmaleh-Bergès, Alix Marhic, Thierry Van Den Abbeele, Natacha Teissier, Abdullah Bahakim, Martine François, Rémi Hervochon

المصدر: International journal of pediatric otorhinolaryngology. 139

مصطلحات موضوعية: medicine.medical_specialty, Sensitivity and Specificity, 03 medical and health sciences, 0302 clinical medicine, Predictive Value of Tests, 030225 pediatrics, Temporal bone, otorhinolaryngologic diseases, False positive paradox, Medicine, Humans, Medical history, 030223 otorhinolaryngology, Child, Retrospective Studies, Cholesteatoma, Middle Ear, business.industry, Cholesteatoma, Retrospective cohort study, General Medicine, medicine.disease, Predictive value, Magnetic Resonance Imaging, medicine.anatomical_structure, Diffusion Magnetic Resonance Imaging, Otorhinolaryngology, Pediatrics, Perinatology and Child Health, Etiology, Middle ear, Radiology, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::168f12c083a6ddc99a1be8bb24ba01d4Test
https://pubmed.ncbi.nlm.nih.gov/33771366Test

المؤلفون: Monique Elmaleh-Bergès, Hélène Ogier de Baulny, Bastien Roche, Roseline Froissart, Oriane Mercati, Odile Fenneteau, Manuel Schiff, Marie Ouachee, Samia Pichard, Yves Bertrand, Marie T. Vanier

المصدر: European Journal of Paediatric Neurology. 21:907-911

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Pediatrics, Early death, Disease, Biology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Child, Cord blood transplantation, Niemann-Pick Diseases, Mutation, Siblings, Homozygote, General Medicine, Intermediate type, Pedigree, Sphingomyelin Phosphodiesterase, Treatment Outcome, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Neurodevelopmental delay, Female, Cord Blood Stem Cell Transplantation, Neurology (clinical), Acid sphingomyelinase, Neurocognitive, 030217 neurology & neurosurgery, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a93a823580bf8756495aa82e5569d852Test
https://doi.org/10.1016/j.ejpn.2017.07.015Test

المؤلفون: Françoise Bernaudin, Monique Elmaleh-Bergès, Charlotte Jubert, Olivier Taïeb, Elisabeth Ducros-Miralles, Camille Runel, Eleonore Petras, Catherine Paillard, Corinne Guitton, Claire Galambrun, Aurore Malric, Emmanuella Leveillé, Valentine Brousse, Jean-Hugues Dalle, Isabelle Thuret, Régis Peffault de Latour, Gérard Socié, Gisèle Elana, Annie Kamdem, Suzanne Verlhac, Manuela Vasile, Benedicte Neven, Lydia Divialle-Doumdo, Sylvie Chevret, Florence Missud, Elise Drain, Corinne Pondarré, Cécile Arnaud

المساهمون: Centre Hospitalier Intercommunal de Créteil (CHIC), Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Robert Debré Paris, Hôpital Robert Debré, Service de pédiatrie générale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Service de pédiatrie, d'hématologie et d'oncologie [Hôpital de La Timone - APHM], Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Service d'immuno-hématologie pédiatrique [CHU Necker], Aix Marseille Université (AMU), Hôpital de Hautepierre [Strasbourg], Les Hôptaux universitaires de Strasbourg (HUS), CHU Strasbourg, CHI Créteil, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), CHU Bordeaux [Bordeaux], CHU de la Martinique [Fort de France], Service de psychopathologie de l'enfant et de l'adolescent, psychiatrie générale [Avicenne], Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Avicenne [AP-HP], Hôpital Robert Debré-Centre Hospitalier Universitaire de Reims (CHU Reims), Service de biostatistique et information médicale de l’hôpital Saint Louis (Equipe ECSTRA) (SBIM), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut national du cancer [Boulogne] (INCA)-Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Saint Louis [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Avicenne, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut national du cancer [Boulogne] (INCA)-CHU Saint Louis [APHP], Université Paris 13 (UP13)-Hôpital Avicenne [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut national du cancer [Boulogne] (INCA)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Diderot - Paris 7 (UPD7)-Université Sorbonne Paris Cité (USPC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Recherche Agronomique (INRA), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint Louis [APHP]-Institut national du cancer [Boulogne] (INCA), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Recherche Agronomique (INRA)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)

المصدر: JAMA Cardiology
JAMA Cardiology, American Medical Association 2019, 321 (3), pp.266. ⟨10.1001/jama.2018.20059⟩

مصطلحات موضوعية: Male, Blood transfusion, Transplantation Conditioning, Ultrasonography, Doppler, Transcranial, medicine.medical_treatment, Graft vs Host Disease, Hematopoietic stem cell transplantation, 01 natural sciences, hydroxyurea, 0302 clinical medicine, 030212 general & internal medicine, Child, Stroke, Original Investigation, transfusions, Hematopoietic Stem Cell Transplantation, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, General Medicine, Allografts, Tissue Donors, Sickle cell anemia, 3. Good health, extracranial internal carotid artery Doppler sonography, Cerebrovascular Circulation, HSCT, Female, Blood Flow Velocity, medicine.medical_specialty, Anemia, Sickle Cell, 03 medical and health sciences, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, cerebral MRI/MRA, Internal medicine, medicine, ischemic stroke, Humans, 0101 mathematics, Sibling, Propensity Score, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, transcranial Doppler imaging, business.industry, Siblings, 010102 general mathematics, medicine.disease, Transcranial Doppler, Transplantation, Propensity score matching, Ferritins, Quality of Life, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97e2a8e2a461a60c710a2a976008002bTest
https://hal.sorbonne-universite.fr/hal-02305907/documentTest

المؤلفون: Jean Claude Carel, Anne Paulsen, Laetitia Martinerie, Dominique Simon, Nicolas de Roux, Emmanuel Ecosse, D. Zenaty, Georges Gelwane, Caroline Storey, Selmen Wannes, Monique Elmaleh-Bergès, Juliane Léger

المصدر: European journal of endocrinology. 179(6)

مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Endocrinology, Diabetes and Metabolism, Encephalopathy, Hypothalamus, Puberty, Precocious, 030209 endocrinology & metabolism, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Prevalence, Humans, Testosterone, Neurofibromatosis, Child, Optic nerve hypoplasia, Estradiol, business.industry, General Medicine, medicine.disease, Pathophysiology, Ectopic Posterior Pituitary, Child, Preschool, Autism, Female, business, Sentinel Surveillance, 030217 neurology & neurosurgery, Narcolepsy, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::628c37a1640b02d12e61babccc2eb8ddTest
https://pubmed.ncbi.nlm.nih.gov/30324796Test

المؤلفون: Jean-François Benoist, Guy Touati, Nathalie Guffon, Isabelle Rouvet, Dries Dobbelaere, Cécile Acquaviva-Bourdain, Manuel Schiff, François Labarthe, Christine Vianey-Saban, Samia Pichard, Stéphanie Paquay, Pascale de Lonlay, Karine Mention, Monique Elmaleh-Bergès, Hélène Ogier de Baulny, Agnès Bourillon, Vassili Valayannopoulos, Alain Fouilhoux

المساهمون: UCL - (SLuc) Service de neurologie pédiatrique, Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National de la Recherche Agronomique (INRA), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL)

المصدر: Journal of Inherited Metabolic Disease, Vol. 40, no.3, p. 415-422 (2017)
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, Springer Verlag, 2017, 40 (3), pp.415-422. ⟨10.1007/s10545-017-0021-y⟩

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, INBORN-ERRORS, [SDV]Life Sciences [q-bio], Ketone Bodies, Basal Ganglia, 0302 clinical medicine, Extrapyramidal symptoms, Basal ganglia, Young adult, BRAIN, Acetyl-CoA C-Acetyltransferase, Child, Genetics (clinical), 2-METHYLACETOACETATE, Putamen, DEFECTS, Acetyl-CoA C-Acyltransferase, 3. Good health, Mitochondria, Globus pallidus, Child, Preschool, Female, medicine.symptom, PROPIONIC ACIDEMIA, Adult, medicine.medical_specialty, 3-OXOTHIOLASE DEFICIENCY, Adolescent, 03 medical and health sciences, Young Adult, Neonatal Screening, Internal medicine, Genetics, medicine, Humans, Decompensation, Isoleucine, Amino Acid Metabolism, Inborn Errors, Retrospective Studies, AMINO-ACID-METABOLISM, Newborn screening, business.industry, ISOLEUCINE DEGRADATION, Infant, Newborn, Infant, Ketosis, medicine.disease, COENZYME-A, Ketoacidosis, 030104 developmental biology, Endocrinology, BETA-KETOTHIOLASE DEFICIENCY, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3e95690a6e31fc2412ae31343f873d7Test
https://hdl.handle.net/2078.1/194947Test

المؤلفون: Jean-Claude Carel, Marianne Alison, Laetitia Martinerie, Juliane Léger, Loukia C. Tzarouchi, Monique Elmaleh-Bergès, Liesbeth Cardoen, Imane El Sanharawi

المصدر: Pediatric radiology. 47(5)

مصطلحات موضوعية: Male, Adolescent, Pituitary Diseases, Contrast Media, Sensitivity and Specificity, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Meglumine, Anterior pituitary, Pituitary Gland, Posterior, Organometallic Compounds, Medicine, Humans, Radiology, Nuclear Medicine and imaging, Child, Neuroradiology, Retrospective Studies, Pituitary stalk, medicine.diagnostic_test, business.industry, Infant, Reproducibility of Results, Magnetic resonance imaging, Anatomy, Image Enhancement, Magnetic Resonance Imaging, Sagittal plane, Ectopic Posterior Pituitary, Contrast medium, medicine.anatomical_structure, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, business, 030217 neurology & neurosurgery, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::924993580ee4c2ef7a4190c31993d016Test
https://pubmed.ncbi.nlm.nih.gov/28255689Test

المؤلفون: Vincent Couloigner, Guy Sebag, Monique Elmaleh-Bergès, N. Noël-Pétroff, Meredith Wilson, Sandrine Marlin, A. Sekkal, Koenraad Devriendt, Veronique Pingault, Clarisse Baumann

المصدر: AJNR Am J Neuroradiol

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Hearing loss, Hearing Loss, Sensorineural, Context (language use), Pediatrics, Diagnosis, Differential, Young Adult, Temporal bone, otorhinolaryngologic diseases, medicine, Humans, Parotid Gland, Waardenburg Syndrome, Radiology, Nuclear Medicine and imaging, Child, Cochlear Nerve, Retrospective Studies, Semicircular canal, SOXE Transcription Factors, Waardenburg syndrome, business.industry, Infant, Newborn, Cochlear nerve, Infant, Temporal Bone, Anatomy, medicine.disease, Olfactory Bulb, Semicircular Canals, Hypoplasia, Cochlea, Radiography, medicine.anatomical_structure, Child, Preschool, Ear, Inner, Agenesis, Mutation, Female, sense organs, Neurology (clinical), medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c1e7cb3465a5599fb6da97dfd7cb5f5Test
https://doi.org/10.3174/ajnr.a3367Test

المؤلفون: Stephan Eliez, Pierre Gressens, Odile Boespflug-Tanguy, Monique Elmaleh-Bergès, Marie Schaer, Séverine Drunat, Bertrand Isidor, Karen Hernandez, Jorge Gallego, Wieland B. Huttner, Thierry Billette de Villemeur, Alain Verloes, Corinne Alberti, Marion Laurent, Nathalie Pouvreau, Vincent El Ghouzzi, Sandrine Passemard, Bénédicte Gérard

المساهمون: Physiopathologie, conséquences fonctionnelles et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 (UPD7)-IFR2-Institut National de la Santé et de la Recherche Médicale (INSERM), Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), 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), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Robert Debré, Unité fonctionnelle de génétique clinique, Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Epidémiologie Clinique et Evaluation Economique Appliquées aux Populations Vulnérables (ECEVE (U1123 / UMR_S_1123)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Département de génétique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Laboratoire de Génétique Moléculaire [CHRU Strasbourg], CHRU Strasbourg, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), GRC ConCer-LD, Université Pierre et Marie Curie - Paris 6 (UPMC), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Université de Lorraine (UL), Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital universitaire Robert-Debré [Paris]-Université Paris Diderot - Paris 7 (UPD7), AP-HP Hôpital universitaire Robert-Debré [Paris], Department of psychiatry, Geneva University Hospital (HUG)

المصدر: Cortex
Cortex, Elsevier, 2016, 74, pp.158-176. ⟨10.1016/j.cortex.2015.10.010⟩
Cortex, Vol. 74 (2016) pp. 158-176

مصطلحات موضوعية: 0301 basic medicine, Male, Microcephaly, Memory, Long-Term, Adolescent, hippocampus, Cognitive Neuroscience, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Hippocampus, Experimental and Cognitive Psychology, Neocortex, Nerve Tissue Proteins, Neuropsychological Tests, White matter, ASPM, memory, 03 medical and health sciences, Young Adult, ddc:616.89, 0302 clinical medicine, Cognition, medicine, Humans, human cerebral cortex, 10. No inequality, Child, Gyrification, ComputingMilieux_MISCELLANEOUS, MCPH, Long-term memory, [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, medicine.disease, White Matter, Brain development, 030104 developmental biology, Neuropsychology and Physiological Psychology, medicine.anatomical_structure, Cortical map, [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Brain size, Mutation, Female, Psychology, Neuroscience, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3062a96a98bac6253a321530bac38d8cTest
https://hal.archives-ouvertes.fr/hal-02324797Test

المؤلفون: Séverine Drunat, Patrick Edery, Laurence Perrin, Alain Verloes, Audrey Labalme, Sandrine Passemard, Azzedine Aboura, Manuel Schiff, D Sanlaville, Andrée Delahaye, Sylvie Manouvrier-Hanu, Brigitte Benzacken, Sonia Bouquillon, Joris Andrieux, Catherine Vincent-Delorme, Monique Elmaleh-Bergès

المصدر: European Journal of Medical Genetics. 53:303-308

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Lissencephaly, Classical Lissencephalies and Subcortical Band Heterotopias, Haploinsufficiency, Young Adult, PAFAH1B1, Ductus arteriosus, Genetics, medicine, Humans, Abnormalities, Multiple, Child, YWHAE, Genetics (clinical), Coloboma, business.industry, Macrocephaly, General Medicine, medicine.disease, Microcornea, medicine.anatomical_structure, 14-3-3 Proteins, Child, Preschool, 1-Alkyl-2-acetylglycerophosphocholine Esterase, Cancer research, Female, Chromosome Deletion, medicine.symptom, business, Microtubule-Associated Proteins, Chromosomes, Human, Pair 17

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5719ac6f2e4bb06e43c136458a50326fTest
https://doi.org/10.1016/j.ejmg.2010.06.009Test

المؤلفون: Julien Lefèvre, Jean-François Mangin, David Germanaud, Aurore Curie, D. Lamblin, Alain Verloes, Stephan Eliez, M. Bintner, Marie Schaer, Grégory Operto, Monique Elmaleh-Bergès, V. des Portes, Roberto Toro, Clara Fischer, Sandrine Passemard, Lucie Hertz-Pannier

المساهمون: Epilepsies de l'Enfant et Plasticité Cérébrale (U1129), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité de recherche en NeuroImagerie Applicative Clinique et Translationnelle (UNIACT), Service NEUROSPIN (NEUROSPIN), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Hôpital Robert Debré Paris, Hôpital Robert Debré, Laboratoire des Sciences de l'Information et des Systèmes (LSIS), Aix Marseille Université (AMU)-Université de Toulon (UTLN)-Arts et Métiers Paristech ENSAM Aix-en-Provence-Centre National de la Recherche Scientifique (CNRS), CHU Sud Saint Pierre [Ile de la Réunion], Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Institut des Sciences cognitives Marc Jeannerod - Laboratoire sur le langage, le cerveau et la cognition (L2C2), École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Université de Genève (UNIGE), AP-HP Hôpital universitaire Robert-Debré [Paris], Université Paris Diderot - Paris 7 (UPD7), Unité Analyse et Traitement de l'Information (UNATI), University of Geneva [Switzerland], Stanford University School of Medicine [Stanford], Stanford University [Stanford], Génétique Humaine et Fonctions Cognitives, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), The cerebral MRIs of the ASPM control group were collected within the framework of a longitudinal study focusing on the brain development of patients with 22q11.2 deletion syndrome, funded by the Swiss National Research Foundation (grants 3200–063135, 3232–063134, and PP00B-102864 to S.E.), with additional support for MRI acquisition at the Center for Biomedical Imaging (www.cibm.ch). The cerebral MRIs of the PQBP1 patients and control groups were collected within the framework of a transversal study on X-linked mental retardation supported by a grant from the French Ministry of Health (PHRC national 2008) with additional support for MRI acquisition at the CERMEP in vivo imaging center (http://www.cermep.frTest). D.G., J.L, R.T., J.F.M., L.H.P. are funded by the Agence Nationale de la Recherche (ANR-12-JS03-001-01, MODEGY)., ANR-12-JS03-0001,MODEGY,Modèles et Descripteurs pour le développement du plissement cortical normal et pathologique(2012), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Genève = University of Geneva (UNIGE), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Stanford School of Medicine [Stanford], Stanford Medicine, Stanford University-Stanford University, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Arts et Métiers Paristech ENSAM Aix-en-Provence-Université de Toulon (UTLN)-Aix Marseille Université (AMU), École normale supérieure - Lyon (ENS Lyon)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon

المصدر: NeuroImage
NeuroImage, Elsevier, 2014, 102 (2), pp.317-331. ⟨10.1016/j.neuroimage.2014.07.057⟩
NeuroImage, 2014, 102 (2), pp.317-331. ⟨10.1016/j.neuroimage.2014.07.057⟩
NeuroImage, Vol. 102P2 (2014) pp. 317-331

مصطلحات موضوعية: Adult, Male, Adolescent, Cognitive Neuroscience, [SDV]Life Sciences [q-bio], Population, Nerve Tissue Proteins, ASPM, Young Adult, 03 medical and health sciences, ddc:616.89, 0302 clinical medicine, Image Interpretation, Computer-Assisted, Humans, Spectral analysis, Child, education, Scaling, Gyrification, 030304 developmental biology, Cerebral Cortex, Brain Mapping, Spatial Analysis, 0303 health sciences, education.field_of_study, Allometry, Spectral, Nuclear Proteins, Complexity, Middle Aged, DNA-Binding Proteins, Neurology, Fetal Alcohol Spectrum Disorders, Simplified gyral pattern, Evolutionary biology, Mutation, Brain size, Microcephaly, Female, Carrier Proteins, Psychology, Neuroscience, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7950116d8b0933d1622da7949d5931e7Test
https://hal-pasteur.archives-ouvertes.fr/pasteur-01967177Test