المؤلفون: Stéphanie Guey, Dominique Hervé, Manoëlle Kossorotoff, Guillaume Ha, Chaker Aloui, Françoise Bergametti, Minh Arnould, Hind Guenou, Jessica Hadjadj, Fanny Dubois Teklali, Florence Riant, Jean-Luc Balligand, Georges Uzan, Bruno O. Villoutreix, Elisabeth Tournier-Lasserve

المصدر: Human Genomics, Vol 17, Iss 1, Pp 1-15 (2023)

مصطلحات موضوعية: Moyamoya, Stroke, Nitric oxide, Soluble guanylate cyclase, Nitric oxide synthase, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1479-7364Test

الوصول الحر: https://doaj.org/article/6cabf2f8d5794295b9752b231297c26aTest

المؤلفون: Laure Delaval, Karine Nguyen, J. Cogez, Romain Schneckenburger, Eric Jouvent, Valérie Lauer, Fatoumata Ba, Matthias Lamy, Cédric Urbanczyk, Igor Raynouard, Françoise Bergametti, Jérémie Dassa, Livia Lanotte, Valérie Layet, Elisabeth Tournier-Lasserve, Jean Philippe Neau, Mira Didic, Alexandru Florea, Cédric Gollion, Carmen Badiu, Thibault Coste, Dominique Hervé, Nathalie Derache, Maude Grelet

المصدر: Brain. 144:2616-2624

مصطلحات موضوعية: Male, Proband, Genetics, Heterozygote, Mutation, Brain, High-Temperature Requirement A Serine Peptidase 1, Middle Aged, Biology, medicine.disease_cause, Penetrance, eye diseases, Stop codon, Pedigree, Frameshift mutation, Codon, Nonsense, medicine, Humans, Missense mutation, Female, Neurology (clinical), Allele, Frameshift Mutation, Haploinsufficiency, Aged

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::212ce227b61b00e5447fe3e027ce0276Test
https://doi.org/10.1093/brain/awab271Test

المؤلفون: Dongchuan Guo, Natasha Kharas, Michael J. Bamshad, Ellen M. Hostetler, Stephanie E. Wallace, Stéphanie Guey, Markus Kraemer, Anjail Sharrief, Ellen S. Regalado, Deborah A. Nickerson, Alana C. Cecchi, Manoelle Kossorotoff, Elisabeth Tournier-Lasserve, Amélie Pinard, Françoise Bergametti, Dianna M. Milewicz, Edward R. Smith, Dominique Hervé

المصدر: Genet Med

مصطلحات موضوعية: Adult, Male, Proband, Heart disease, Developmental Disabilities, Cell Cycle Proteins, Disease, Article, Chromatin remodeling, Angiopathy, Pleiotropy, Intellectual Disability, Exome Sequencing, medicine, Humans, Exome, Genetic Predisposition to Disease, Child, Genetics (clinical), Exome sequencing, Genetics, business.industry, DNA Helicases, Nuclear Proteins, food and beverages, Methyltransferases, Middle Aged, medicine.disease, Human genetics, Cerebrovascular Disorders, Child, Preschool, Mutation, Female, Moyamoya Disease, business, Mi-2 Nucleosome Remodeling and Deacetylase Complex, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8a2d394fd7a88d77f484623439d01fdTest
https://doi.org/10.1038/s41436-019-0639-2Test

المؤلفون: Chaker Aloui, Hélène Morel, Florian Savenier, Kilan Le Guennec, Emilien Bernard, Julien Cogez, Waliyde Jabeur, Edgard Verdura, Jessica Lebenberg, Emmanuelle Génin, Geneviève Demarquay, Hugues Chabriat, Françoise Bergametti, Thomas Ludwig, Gaëlle Marenne, Dominique Hervé, Panagiotis Bachoumas, Elisabeth Tournier-Lasserve, Thibault Coste, Guillaume Mathey

المصدر: Annals of neurologyReferences. 90(6)

مصطلحات موضوعية: Adult, Male, Disease, Biology, Hippocampal formation, Bioinformatics, Hippocampus, Leukoencephalopathy, Leukoencephalopathies, medicine, Humans, Exome, Registries, Episodic memory, Gene, Aged, Memory Disorders, Middle Aged, medicine.disease, Phenotype, Magnetic Resonance Imaging, Blot, Neurology, Cerebral Small Vessel Diseases, Female, Neurology (clinical), Laminin

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7646b9c134bced92fcef918c7156fdefTest
https://pubmed.ncbi.nlm.nih.gov/34606115Test

المؤلفون: Dominique Vidaud, Florence Riant, Lou Grangeon, Chaker Aloui, Françoise Bergametti, Jan Claudius Schwitalla, Markus Kraemer, Jessica Hadjadj, Stéphanie Guey, Severine Drunat, Minh Arnould, Michaelle Corpechot, Elisabeth Tournier-Lasserve

المصدر: Stroke. 50:789-796

مصطلحات موضوعية: Adult, Male, Proband, Adolescent, Ubiquitin-Protein Ligases, Angiopathy, Young Adult, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Gene Frequency, Exome Sequencing, Phosphoprotein Phosphatases, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Moyamoya disease, Age of Onset, Child, Gene, Alleles, Genetic Association Studies, Exome sequencing, Aged, 030304 developmental biology, Adenosine Triphosphatases, Advanced and Specialized Nursing, Genetics, 0303 health sciences, business.industry, Livedo racemosa, Middle Aged, medicine.disease, Pedigree, Europe, Mutation, Mendelian inheritance, symbols, Female, Neurology (clinical), Moyamoya Disease, medicine.symptom, Cardiology and Cardiovascular Medicine, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc2b6c2c56ec702ec0fbfe4b310b1f15Test
https://doi.org/10.1161/strokeaha.118.023972Test

المؤلفون: Florence Riant, Françoise Bergametti, Paul Petit, Christian Denier, Aurélien Nouet, Annabelle Chaussenot, Géraldine Viot, Elisabeth Tournier-Lasserve, François Viallet, Dominique Hervé, Marie Pierre Brechard, Christophe Verny, Pierre Labauge

المساهمون: Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Hôpital Américain de Paris, Centre de reference des maladies neuromusculaires Nantes-Angers, CHU d'Angers et Nantes, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Hôpital Saint-Joseph [Marseille], Service de neurologie [Le Kremlin Bicêtre], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Département de neurologie [Montpellier], Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Service de Neurochirurgie [CHU Pitié-Salpêtrière], 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), Centre Hospitalier d'Aix en Provence [Aix-en-Provence] (CHIAP ), Dpt génétique médicale [CHU Nice], Centre Hospitalier Universitaire de Nice (CHU Nice), Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Lariboisière-Fernand-Widal [APHP], Service de génétique moléculaire neurovasculaire, groupe hospitalier Saint-Louis Lariboisière-Fernand-Widal, 75010 Paris, France.

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2020, 57 (6), pp.400-404. ⟨10.1136/jmedgenet-2019-106401⟩

مصطلحات موضوعية: Central Nervous System, 0301 basic medicine, Phosphotyrosine binding, Hemangioma, Cavernous, Central Nervous System, PTB domain, MESH: Hemangioma, Cavernous, Central Nervous System, Genetic counseling, Mutation, Missense, MESH: Carrier Proteins, Biology, Cerebral cavernous malformations, 03 medical and health sciences, Genetics, Humans, Missense mutation, MESH: Central Nervous System, MESH: Protein Binding, Protein Interaction Maps, KRIT1 Protein, Gene, Genetics (clinical), Loss function, MESH: Protein Interaction Maps, CCM2, CCM, Cerebral cavernous malformation, MESH: Mutation, Missense, MESH: Humans, 030102 biochemistry & molecular biology, HEK 293 cells, MESH: KRIT1 Protein, Membrane Proteins, 3. Good health, MESH: Microtubule-Associated Proteins, HEK293 Cells, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: HEK293 Cells, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], MESH: Membrane Proteins, Carrier Proteins, Phosphotyrosine-binding domain, Microtubule-Associated Proteins, Protein Binding

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b67d71b20ea651f97cb9aff0885a310fTest
https://hal.umontpellier.fr/hal-03421002Test

المؤلفون: Françoise Bergametti, Delphine Sitterlin

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://jvi.asm.org/content/76/13/6495.full.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.557.3620Test; http://jvi.asm.org/content/76/13/6495.full.pdfTest

الإتاحة: http://jvi.asm.org/content/76/13/6495.full.pdfTest

المؤلفون: F. Riant, Olivier Lambotte, Catherine Buffet, G. Nasser, A. Bisserbe, C. Denier, Ali G. Turhan, G. Tertian, Françoise Bergametti, Elisabeth Tournier-Lasserve, P. Alvin, M. Tardieu

المصدر: Revue Neurologique. 171:445-449

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Ataxia, Adolescent, Telomere-Binding Proteins, Hepatoportal sclerosis, Genes, Recessive, Context (language use), Leukoencephalopathy, Pathogenesis, Retinal Diseases, Leukoencephalopathies, Seizures, medicine, Humans, Coats' disease, Esophagus, Central Nervous System Cysts, Fetal Growth Retardation, Brain Neoplasms, business.industry, Microangiopathy, Calcinosis, medicine.disease, Magnetic Resonance Imaging, medicine.anatomical_structure, Neurology, Muscle Spasticity, Mutation, Neurology (clinical), medicine.symptom, Gastrointestinal Hemorrhage, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8292e1afeed1f37936415d21a98aa59aTest
https://doi.org/10.1016/j.neurol.2015.01.566Test

المؤلفون: Florence Riant, Mark L. Kahn, Xiangjian Zheng, Elisabeth Tournier-Lasserve, Cynthia D. Myers, Jisheng Yang, Benjamin Kleaveland, Wei Pan, Françoise Bergametti, Alan T. Tang

المصدر: Stroke. 45:1505-1509

مصطلحات موضوعية: Hemangioma, Cavernous, Central Nervous System, medicine.medical_specialty, Endothelium, Mice, Transgenic, Article, Retina, Mice, Fetus, Proto-Oncogene Proteins, Internal medicine, medicine, Animals, Humans, Receptor, KRIT1 Protein, Gene, Advanced and Specialized Nursing, business.industry, Microfilament Proteins, Brain, Membrane Proteins, Embryo, medicine.anatomical_structure, Endocrinology, Membrane protein, Neurology (clinical), Signal transduction, Apoptosis Regulatory Proteins, Carrier Proteins, Cardiology and Cardiovascular Medicine, business, Microtubule-Associated Proteins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab08ce2dc23f72df1e99f904fd6cf85aTest
https://doi.org/10.1161/strokeaha.114.004809Test

المؤلفون: Françoise Bergametti, Michel Zerah, Peter Brouckaert, Marilyne Lebret, Sabine Roman, Stéphanie Guey, Anne Philippi, Kareen Billiemaz, Sandrine Passemard, Xavier Dray, Frédéric Adam, Hugues Chabriat, Gwénola Boulday, Dominique Hervé, Christian Sainte-Rose, Valérie Krivosic, Maryjke Bryckaert, Aurore Essongue, Stéphane Chabrier, Eliane Berrou, Emmanuel Houdart, Reda Belbouab, Sophie Collardeau-Frachon, Audrey Delaforge, Elisabeth Tournier-Lasserve

المصدر: The American Journal of Human Genetics. 94(3):385-394

مصطلحات موضوعية: Adult, Blood Platelets, Male, medicine.medical_specialty, Adolescent, Genotype, Platelet Aggregation, Receptors, Cytoplasmic and Nuclear, Nitric Oxide, Article, Muscle, Smooth, Vascular, Nitric oxide, Angiopathy, Young Adult, chemistry.chemical_compound, Platelet Adhesiveness, Soluble Guanylyl Cyclase, Internal medicine, medicine, Genetics, Humans, Platelet, Genetics(clinical), Moyamoya disease, Child, Receptor, Cyclic GMP, Stroke, Genetics (clinical), business.industry, Homozygote, GUCY1A3, Correction, medicine.disease, Pathophysiology, Pedigree, Esophageal Achalasia, Endocrinology, chemistry, Guanylate Cyclase, Child, Preschool, Mutation, Female, Moyamoya Disease, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb4b0de1e0b8a100cf6a6491cf568409Test