نتائج البحث - "Monique Elmaleh-Bergès"

51

Hemiconvulsion-hemiplegia-epilepsy syndrome: current understandings

المؤلفون: Dana Merdariu, Odile Boespflug-Tanguy, Stéphane Auvin, Catherine Delanoë, Vanina Bellavoine, Monique Elmaleh-Bergès, Pierre Gressens

المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 16(5)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Epilepsy, Basic science, business.industry, Brain, Hemiplegia, General Medicine, Status epilepticus, Syndrome, medicine.disease, Corpus callosum, Epileptogenesis, Anesthesia, Febrile seizure, Pediatrics, Perinatology and Child Health, Etiology, medicine, Humans, Ictal, Neurology (clinical), medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21c4eb3bc4872e8eb157bb74bc0dac70Test
https://pubmed.ncbi.nlm.nih.gov/22341151Test

52

Auteurs et collaborateurs

المؤلفون: Georges Caputo, Florence Metge-Galatoire, Carl Arndt, John Conrath, Aude Affortit-Demoge, Cédric Aknin, François Audren, Christophe Baeteman, Chrysanthi Basdekidou, Frank Becquet, Francine Behar-Cohen, Olivier Bergès, Jean-Paul Berrod, Sébastien Bonnel, Étienne Bovey, Antoine P. Brézin, Nathalie Cassoux, Dominique Chauvaud, Christophe Chiquet, Isabelle Cochereau, Catherine Creuzot-Garcher, Jean-Baptiste Daudin, Sabine Defoort-Dhellemmes, Éric Denion, Laurence Desjardins, François Devin, Jean-Michel Devys, François-Xavier Donnette, Alain Ducasse, Pascal Dureau, Catherine Edelson, Monique Elmaleh-Bergès, Mohamed El Sanharawi, Catherine Favard, Éric Frau, Aurélien Freton, Olivier Galatoire, Frédéric Galland, Pierre Gastaud, Alain Gaudric, Jean-François Girmens, Agnès Glacet-Bernard, Alexandra Guez-Daudin, Belkacem Haouchine, Jean-Claude Jeanny, Jean-François Korobelnik, Valérie Krivosic, Jacques Laloum, Yannick Le Mer, Jean-François Le Rouic, Amélie Lecleire-Collet, Livia Lumbroso-Le Rouic, Pascale Massin, Isabelle Meunier, Claire Monin, Christophe Morel, Bruno Morin, Alexandre Moulin, Véronique Pagot-Mathis, Éric Parrat, Vincent Pierre-Kahn, Bernard Puech, Michèle Savoldelli, Ramin Tadayoni, Nicolas Teyssot, Gilles Thuret, Michel Weber, Thomas J. Wolfensberger, Yann Yhuel, Jean-Christophe Zech

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5a66430aed950f32ae288ff02e40fd85Test
https://doi.org/10.1016/b978-2-294-71471-9.50074-6Test

53

Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia

المؤلفون: Laurence Legeai-Mallet, Nadia Messaddeq, Vincent Couloigner, Monique Elmaleh-Bergès, Stéphanie Pannier, Arnold Munnich, Raymond Romand

المساهمون: Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service Oto-Rhino-Laryngologie-Chirurgie Cervico-faciale, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Louis Pasteur - Strasbourg I, Service d'imagerie pédiatrique, Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), This research was supported by EUROGROW and GIS-Maladies Rares. APHP/ CANAM was awarded to SP, Peney, Maité, Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement ( Inserm U781 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Institut de génétique et biologie moléculaire et cellulaire ( IGBMC ), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 ( UPD7 )

المصدر: BBA-Biochimica et Biophysica Acta
BBA-Biochimica et Biophysica Acta, Elsevier, 2009, 1792 (2), pp.140-7. ⟨10.1016/j.bbadis.2008.11.010⟩
BBA-Biochimica et Biophysica Acta, 2009, 1792 (2), pp.140-7. ⟨10.1016/j.bbadis.2008.11.010⟩
BBA-Biochimica et Biophysica Acta, Elsevier, 2009, 1792 (2), pp.140-7. 〈10.1016/j.bbadis.2008.11.010〉

مصطلحات موضوعية: MESH : Tyrosine, Thanatophoric dysplasia, Labyrinth Diseases, Dwarfism, Hypochondroplasia, MESH: Tyrosine, Mice, 0302 clinical medicine, MESH: Animals, Achondroplasia, MESH: Heterozygote, 0303 health sciences, musculoskeletal system, MESH : Mice, Transgenic, Cell biology, Cochlea, medicine.anatomical_structure, MESH : Microscopy, Electron, Transmission, Chondrodysplasia, MESH: Microscopy, Electron, Transmission, Molecular Medicine, MESH : Mutation, musculoskeletal diseases, medicine.medical_specialty, MESH : Chondrodysplasia Punctata, MESH : Heterozygote, Chondrodysplasia Punctata, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, MESH: Enzyme Activation, MESH: Mutation, MESH: Receptor, Fibroblast Growth Factor, Type 3, MESH: Mice, Transgenic, Fgfr3, MESH : Receptor, Fibroblast Growth Factor, Type 3, Mice, Transgenic, Biology, MESH : Labyrinth Diseases, 03 medical and health sciences, Microscopy, Electron, Transmission, Internal medicine, MESH : Hearing Loss, MESH : Mice, medicine, otorhinolaryngologic diseases, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Animals, Receptor, Fibroblast Growth Factor, Type 3, Inner ear, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Hearing Loss, MESH: Hearing Loss, Molecular Biology, [ SDV.BBM ] Life Sciences [q-bio]/Biochemistry, Molecular Biology, MESH: Mice, 030304 developmental biology, MESH: Labyrinth Diseases, Fibroblast growth factor receptor 3, medicine.disease, MESH : Disease Models, Animal, MESH: Chondrodysplasia Punctata, Pillar cell, Enzyme Activation, Disease Models, Animal, stomatognathic diseases, Endocrinology, Organ of Corti, Mutation, Tyrosine, MESH : Animals, sense organs, MESH: Disease Models, Animal, MESH : Enzyme Activation, 030217 neurology & neurosurgery