المؤلفون: Flore Rozenberg, Richard Delorme, Pierre Ellul, Odile Boespflug-Tanguy, Vincent Bondet, Yanick J. Crow, Theresa Kwon, Darragh Duffy, Isabelle Melki, Monique Elmaleh-Bergès, Séverine Drunat, Anaël Ayrolles, Florence Renaldo

المساهمون: Service Psychiatrie de l'Enfant et de l'Adolescent, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Génétique Humaine et Fonctions Cognitives, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Service de neurologie pédiatrique et maladies métaboliques, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), 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), Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), 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), Service 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), Service de Néphrologie pédiatrique [Hôpital Robert Debré, Paris], Service de Virologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Immunobiologie des Cellules dendritiques, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratory of neurogenetics and neuroinflammation (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), MRC Institute of Genetics and Molecular Medicine [Edinburgh] (IGMM), University of Edinburgh-Medical Research Council, Centre de référence des rhumatismes inflammatoires et maladies autoimmunes systémiques rares de l'enfant [Paris] (RAISE), Département d'Immunologie, hématologie et rhumatologie pédiatriques [Hôpital Necker-Enfants malades - APHP], CHU Necker - Enfants Malades [AP-HP], We acknowledge the contribution of the General Paediatrics, Infectious Disease and Internal Medicine Department, the Child and Adolescent Psychiatry Department, the Child Neurology Department, the Pediatric Nephrology Department and the Genetics Department of Robert Debre Hospital. We thank the patient and his family members for allowing us to report the findings of his case., Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)

المصدر: Schizophrenia Research
Schizophrenia Research, Elsevier, 2020, Online ahead of print, ⟨10.1016/j.schres.2020.05.064⟩
Schizophrenia Research, 2020, Online ahead of print, ⟨10.1016/j.schres.2020.05.064⟩
Ayrolles, A, Ellul, P, Renaldo, F, Boespflug, O, Delorme, R, Drunat, S, Elmaleh-Berges, M, Kwon, T, Rozenberg, F, Bondet, V, Duffy, D, Crow, Y & Melki, I 2020, ' Catatonia in a patient with Aicardi-Goutières syndrome efficiently treated with immunoadsorption ', Schizophrenia Research . https://doi.org/10.1016/j.schres.2020.05.064Test

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Catatonia, Alpha interferon, Interstitial lung disease, Aicardi-Goutières syndrome, Nervous System Malformations, 03 medical and health sciences, Autoimmune Diseases of the Nervous System, 0302 clinical medicine, medicine, Humans, Immunoadsorption, Biological Psychiatry, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 0303 health sciences, business.industry, Interferon-alpha, medicine.disease, 3. Good health, Psychiatry and Mental health, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Aicardi–Goutières syndrome, [SDV.IMM]Life Sciences [q-bio]/Immunology, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], business, 030217 neurology & neurosurgery

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5690ce06a033f55e05386c5184185d7Test
https://hal-pasteur.archives-ouvertes.fr/pasteur-02900829Test

المؤلفون: Anita Rauch, Nathalie Pouvreau, Séverine Drunat, Yves Alembik, Anais Ernault, Liza Vera, Hala Nasser, Katharina Steindl, Fabien Guimiot, Pierre Gressens, Vincent El Ghouzzi, Sophie Guilmin Crepon, Delphine Héron, Nathalie Kubis, Alain Verloes, Natacha Teissier, Marie Laure Moutard, Sandrine Passemard, Florentia Kaguelidou, Alexandra Afenjar, Paolo Milani, Marcella Zollino, Pascaline Letard, Martha Momtchilova, Monique Elmaleh-Bergès

المساهمون: University of Zurich, Passemard, Sandrine, Service d'imagerie pédiatrique, Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), 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), AP-HP Hôpital universitaire Robert-Debré [Paris], Hôpital Robert Debré, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Department of Medical Genetics, Hôpitaux Universitaires de Strasbourg, Service de Neurologie Pédiatrique, HFME, Bron, France, Hôpital Lariboisière, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Lariboisière-Université Paris Diderot - Paris 7 (UPD7), Unité fonctionnelle de génétique clinique, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Istituto di Genetica Medica, 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], Institute of Medical Genetics, University of Zürich [Zürich] (UZH), 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), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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)-Université Paris Diderot - Paris 7 (UPD7), Universität Zürich [Zürich] = University of Zurich (UZH)

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2020, pp.jmedgenet-2019-106474. ⟨10.1136/jmedgenet-2019-106474⟩

مصطلحات موضوعية: Microcephaly, Pathology, medicine.medical_specialty, 2716 Genetics (clinical), 10039 Institute of Medical Genetics, [SDV]Life Sciences [q-bio], CDK5RAP2, intellectual disability, MCPH, primary microcephaly, retinal alteration, sensorineural hearing loss, 610 Medicine & health, Settore MED/03 - GENETICA MEDICA, Microphthalmia, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Holoprosencephaly, 1311 Genetics, Genetics, medicine, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), Cochlea, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 0303 health sciences, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Retinal, medicine.disease, chemistry, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Brain size, 570 Life sciences, biology, Sensorineural hearing loss, business, 030217 neurology & neurosurgery

وصف الملف: 389.full-1.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::909838f5c1cffdd3cdf86d26707ae3d7Test
http://hdl.handle.net/10807/153423Test

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: 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: Monique Elmaleh-Bergès, Veronique Pingault, N. Noël-Pétroff, Vincent Couloigner, Emmanuelle Faubert, Nadege Bondurand, Natalie Loundon, H. Ducou Le Pointe, Viviane Baral, Françoise Denoyelle, Souad Gherbi, Sandrine Marlin

المصدر: Clinical Genetics. 88:352-359

مصطلحات موضوعية: Pathology, medicine.medical_specialty, medicine.diagnostic_test, Kallmann syndrome, Waardenburg syndrome, Hearing loss, Cochlear nerve, Anosmia, Magnetic resonance imaging, Anatomy, Biology, medicine.disease, Hyposmia, Temporal bone, otorhinolaryngologic diseases, Genetics, medicine, medicine.symptom, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::01690a40cd0a2cdc5610b85dc9f5d86eTest
https://doi.org/10.1111/cge.12506Test

المؤلفون: Bogdana Tilea, Marianne Alison, Corinne Alberti, Monique Elmaleh-Bergès, Nadia Belarbi, Guy Sebag, Pierre Gressens, Priscilla Boizeau, Jean-François Oury, Agnès Sartor, Owen J. Arthurs

المصدر: Prenatal Diagnosis. 34:357-366

مصطلحات موضوعية: Reproducibility, Pregnancy, Pathology, medicine.medical_specialty, Correlation coefficient, business.industry, Obstetrics and Gynecology, Gestational age, medicine.disease, Pons, White matter, medicine.anatomical_structure, Cerebellar hemisphere, medicine, Effective diffusion coefficient, Nuclear medicine, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c7137dd904d6d687d4fd6ca85427c5cdTest
https://doi.org/10.1002/pd.4309Test

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: 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: 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: H. Ogier de Baulny, J. Viala, Abdelhamid Slama, Guy Sebag, Monique Elmaleh-Bergès, P. Rousset

المصدر: Journal of Neuroradiology. 35:121-124

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Radiological and Ultrasound Technology, medicine.diagnostic_test, business.industry, Mitochondrial disease, Leukodystrophy, Magnetic resonance imaging, medicine.disease, Cachexia, White matter, medicine.anatomical_structure, medicine, Radiology, Nuclear Medicine and imaging, Neurology (clinical), Thymidine phosphorylase, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::181f48f013693e124fed8b1551f92ae5Test
https://doi.org/10.1016/j.neurad.2007.07.003Test