المؤلفون: Clémence Labasse, J. Wade Harper, Anne Lombès, Jean-François Benoist, Mylène Gilleron, Monique Elmaleh-Bergès, Emmanuelle Lacène, Hélène Ogier de Baulny, Eric S. Goetzman, P. Rustin, Manuel Schiff, Joao A. Paulo, Norma B. Romero, Paule Bénit, Abdelhamid Slama, Dominique Chrétien, Agnès Bourillon, Virginia Guarani, Imen Dorboz, Pauline Gaignard, Claude Jardel, Apolline Imbard

مصطلحات موضوعية: Liver disease, business.industry, Mutation (genetic algorithm), Immunology, medicine, Mitochondrial encephalopathy, medicine.disease, business, Early onset

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6972e8a8cc23348390c1fd1136dff586Test
https://doi.org/10.7554/elife.17163.012Test

المؤلفون: Simon Samaan, Anne-Lise Poulat, Yosra Bouyacoub, Florence Renaldo, Karima Boussaid, Monique Elmaleh Bergès, Christophe Rousselle, Haifa Jmel, Odile Boespflug-Tanguy, Hélène Dumay-Odelot, Imen Dorboz, Claude Cances, Pauline Barreau, Céline Bar, Martin Teichmann, Eleonore Eymard-Pierre

المساهمون: 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), Laboratoire de Biologie et de Pharmacologie Appliquée (LBPA), École normale supérieure - Cachan (ENS Cachan)-Centre National de la Recherche Scientifique (CNRS), 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), Centre de référence des leucodystrophies et leucoencéphalopathies de cause rare [AP-HP Hôpital Robert-Debré] (LEUKOFRANCE), Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory (LR11IPT05), Université de Tunis El Manar (UTM)-Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Service de Cytogénétique Médicale [CHU Clermont-Ferrand], CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Département de Pédiatrie [CHU Toulouse], CHU Toulouse [Toulouse], Service d'endocrinologie pédiatrique [CHU Hôpital des Enfants, Toulouse], Service de neurologie pédiatrique [HCL, Lyon] (Hôpital Femme Mère Enfant), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Agence nationale de sécurité sanitaire de l'alimentation, de l'environnement et du travail (ANSES), Département de Radiologie Pédiatrique [AP-HP Hôpital Robert-Debré], 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), Acides Nucléiques : Régulations Naturelle et Artificielle (ARNA), Université de Bordeaux (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), This study was supported by the European Leukodystrophy Association (ELA), grant number ELA 2009-007I4, and by the European Union FP7 RD Connect project., Ben Hassine, AbdelHakim, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service Endocrinologie, génétique et gynécologie médicale pédiatrique [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)

المصدر: Neurology Genetics
Neurology Genetics, American Academy of Neurology, 2018, 4 (6), pp.e289. ⟨10.1212/nxg.0000000000000289⟩
Neurology: Genetics
Neurology Genetics, 2018, 4 (6), pp.e289. ⟨10.1212/nxg.0000000000000289⟩

مصطلحات موضوعية: 0301 basic medicine, Genetics, Biallelic Mutation, Mutation, biology, [SDV]Life Sciences [q-bio], Ribosomal RNA, biology.organism_classification, medicine.disease_cause, Disease gene identification, Article, 3. Good health, [SDV] Life Sciences [q-bio], 03 medical and health sciences, 030104 developmental biology, Eukaryotic translation, Transfer RNA, medicine, Neurology (clinical), Zebrafish, Gene, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22b0a49c95ea1c7e42607f688709f8b4Test
https://doi.org/10.1212/nxg.0000000000000289Test

المؤلفون: Julien Masliah-Planchon, Davide Tonduti, Diana Rodriguez, Imen Dorboz, Odile Boespflug-Tanguy, Florence Renaldo, Monique Elmaleh-Bergès, Hélène Dalens

المصدر: Neurology. 84:2195-2197

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, medicine.disease_cause, Leukoencephalopathy, Leukoencephalopathies, Laminin, Humans, Medicine, In patient, Gene, Mutation, biology, Cysts, business.industry, Cerebral white matter, Siblings, Cortical dysplasia, medicine.disease, Phenotype, Malformations of Cortical Development, biology.protein, Female, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0de5981d40746bb5940abef63a63e220Test
https://doi.org/10.1212/wnl.0000000000001607Test

المؤلفون: Guy Sebag, Monique Elmaleh-Bergès, Nadia Belarbi, Marie-Noëlle de Milly, Jean-François Oury, Marianne Alison, Edith Vuillard, Owen J. Arthurs

المصدر: Prenatal Diagnosis. 33:273-278

مصطلحات موضوعية: medicine.medical_specialty, Ectrodactyly, medicine.diagnostic_test, business.industry, Corpus Callosum Agenesis, Ultrasound, Obstetrics and Gynecology, Retrognathism, Retrospective cohort study, Magnetic resonance imaging, Prenatal diagnosis, medicine.disease, Surgery, Medicine, Radiology, Secondary palate, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bb0ff057a8de39253d655d81a3f429a0Test
https://doi.org/10.1002/pd.4058Test

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: Philippe Evrard, Manuel Schiff, Julie Sommet, Raphaël Blanc, Monique Elmaleh-Bergès

المصدر: Pediatric Radiology. 40:1417-1420

مصطلحات موضوعية: medicine.medical_specialty, Corpus callosum, Asymptomatic, Corpus Callosum, Dysgenesis, Aneurysm, otorhinolaryngologic diseases, medicine, Humans, Radiology, Nuclear Medicine and imaging, Cerebral Hemorrhage, Neuroradiology, medicine.diagnostic_test, Brain Neoplasms, business.industry, Infant, Intracranial Aneurysm, Magnetic resonance imaging, Anatomy, Lipoma, medicine.disease, Magnetic Resonance Imaging, Radiography, Agenesis, Pediatrics, Perinatology and Child Health, Female, Radiology, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c580e83bbd42a02e6fe04676eb640c5bTest
https://doi.org/10.1007/s00247-009-1534-9Test

المؤلفون: Chantal Loirat, Monique Elmaleh-Bergès, Raphaël Blanc, Jacques Moret, Charles Majoie, Theresa Kwon, Véronique Frémeaux-Bacchi, Georges Deschênes, Timothy H.J. Goodship, Marie-Alice Macher, Jean-Claude Davin, Julien Savatovsky

المساهمون: Amsterdam Cardiovascular Sciences, Amsterdam Neuroscience, Radiology and Nuclear Medicine, Amsterdam institute for Infection and Immunity, Paediatric Nephrology

المصدر: Nephrology, dialysis, transplantation, 25(10), 3421-3425. Oxford University Press

مصطلحات موضوعية: medicine.medical_specialty, Adolescent, Vertebral artery, medicine.medical_treatment, Ischemia, Arterial Occlusive Diseases, Internal medicine, medicine.artery, Angioplasty, Atypical hemolytic uremic syndrome, medicine, Humans, cardiovascular diseases, Transplantation, Arterial stenosis, business.industry, medicine.disease, Surgery, Renal Replacement Therapy, Stenosis, Nephrology, Factor H, Hemolytic-Uremic Syndrome, Mutation, Pulmonary artery, Cardiology, cardiovascular system, Female, business, Complement Factor B

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::395ffcbbffb1f58daa410cfda3d16cceTest
https://doi.org/10.1093/ndt/gfq319Test

المؤلفون: Natacha Teissier, Monique Elmaleh-Bergès, S Bennaceur, Marie-Line Jacquemont, Jean-Philippe Blancal, Thierry Van Den Abbeele

المصدر: The Cleft Palate-Craniofacial Journal. 46:93-96

مصطلحات موضوعية: Male, medicine.medical_specialty, medicine.medical_treatment, Oral Surgical Procedures, Nonunion, Ribs, Mandible, medicine, Humans, Reduction (orthopedic surgery), Hypoplastic mandible, Bone Transplantation, business.industry, musculoskeletal, neural, and ocular physiology, Snoring, Pharynx, Glossoptosis, Anterior projection, medicine.disease, Chin, respiratory tract diseases, Surgery, Airway Obstruction, medicine.anatomical_structure, Otorhinolaryngology, Child, Preschool, Pycnodysostosis, Oral Surgery, medicine.symptom, business, Mandibulofacial Dysostosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f388d3bd9f49a0095fd3a66a557a16aTest
https://doi.org/10.1597/06-199.1Test