المؤلفون: Virginie Penard-Lacronique, Isabelle André-Schmutz, Xin-Ying Su, Roland Berger, Paola Ballerini, Claudie Lemercier, Véronique Della-Valle, Francine Mugneret, Serge Romana, Michel Lessard, Isabelle Radford-Weiss, Marina Lafage-Pochitaloff, Olivier Bernard

المساهمون: Génétique des hémopathies humaines ( EMI 210 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Developpement Normal et Pathologique du Système Immunitaire, Contrôle moléculaire de la réponse immune specifique, Université Joseph Fourier - Grenoble 1 ( UJF ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Laboratoire de Cytogénétique, Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Descartes - Paris 5 ( UPD5 ) -CHU Necker - Enfants Malades [AP-HP], Service d'Hématologie Biologique, Assistance publique - Hôpitaux de Paris (AP-HP), Laboratoire d'Hématologie, CHU Strasbourg, Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), Laboratoire de cytogénétique (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Génétique des hémopathies humaines (EMI 210), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Joseph Fourier - Grenoble 1 (UJF)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)

المصدر: Blood
Blood, American Society of Hematology, 2006, 108 (13), pp.4198-201. 〈10.1182/blood-2006-07-032953〉
Blood, 2006, 108 (13), pp.4198-201. ⟨10.1182/blood-2006-07-032953⟩
Blood, American Society of Hematology, 2006, 108 (13), pp.4198-201. ⟨10.1182/blood-2006-07-032953⟩

مصطلحات موضوعية: Oncogene Proteins, Fusion, Transcription, Genetic, T-Lymphocytes, BCL11B, Chromosomal translocation, MESH : Promoter Regions, Genetic, MESH : Oncogene Proteins, Fusion, Biochemistry, Jurkat cells, Translocation, Genetic, Jurkat Cells, MESH : Chromosomes, Human, Pair 5, 0302 clinical medicine, MESH : Translocation, Genetic, Transcription (biology), MESH: Jurkat Cells, Leukemia-Lymphoma, Adult T-Cell, MESH: Leukemia-Lymphoma, Adult T-Cell, MESH : Homeodomain Proteins, Promoter Regions, Genetic, MESH : Jurkat Cells, Oncogene Proteins, 0303 health sciences, MESH : Chromosomes, Human, Pair 14, MESH : Oncogene Proteins, MESH : Tumor Suppressor Proteins, Cell Differentiation, Hematology, Transfection, MESH: Translocation, Genetic, DNA-Binding Proteins, medicine.anatomical_structure, MESH: Repressor Proteins, 030220 oncology & carcinogenesis, Chromosomes, Human, Pair 5, MESH : DNA-Binding Proteins, MESH : Repressor Proteins, MESH : Cell Differentiation, MESH: Cell Differentiation, MESH: Chromosomes, Human, Pair 5, T cell, Immunology, Biology, 03 medical and health sciences, MESH: Oncogene Proteins, MESH: Promoter Regions, Genetic, MESH: Homeodomain Proteins, medicine, Humans, MESH: Tumor Suppressor Proteins, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, [ SDV.BBM ] Life Sciences [q-bio]/Biochemistry, Molecular Biology, 030304 developmental biology, Chromosomes, Human, Pair 14, Homeodomain Proteins, MESH : T-Lymphocytes, MESH: Humans, Recombinase activity, Tumor Suppressor Proteins, MESH: Transcription, Genetic, MESH : Humans, MESH : Transcription, Genetic, Cell Biology, T lymphocyte, Molecular biology, MESH : Leukemia-Lymphoma, Adult T-Cell, Repressor Proteins, MESH: T-Lymphocytes, MESH: Chromosomes, Human, Pair 14, MESH: DNA-Binding Proteins, MESH: Oncogene Proteins, Fusion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6adf14ef0ddfbe9642775c149090b90Test
https://doi.org/10.1182/blood-2006-07-032953Test

المؤلفون: Joris Andrieux, Véronique David, Dominique Bonneau, Magalie Barth, Hubert Journel, Muriel Holder-Espinasse, Alice Goldenberg, Sylvie Jaillard, Aude Charollais, Thierry Frebourg, Nathalie Le Meur, Cécile Boucher, Sylvie Manouvrier-Hanu, Christèle Dubourg, Stéphane Auvin, Agnès Guichet, Sylvie Joriot, Pascale Saugier-Veber, Jean-Pierre Kerckaert, Patrizia Amati-Bonneau

المساهمون: Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Laboratoire de Cytogénétique, Etablissement français du sang - Normandie (EFS), Service de Génétique clinique, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institut de Génétique et Développement de Rennes (IGDR), Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Service de Neuropédiatrie, Hôpital Roger Salengro [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Mitochondrie : Régulations et Pathologie, Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Service de pédiatrie néonatale et réanimation - neuropédiatrie [CHU Rouen], Hôpital Charles Nicolle [Rouen]-CHU Rouen, Génétique Médicale, Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA)-Hôpital Chubert, 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), Plateforme de Génomique Fonctionnelle, Université de Lille, Droit et Santé, Service de biologie moléculaire, Hôpital Pontchaillou, Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques, Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Génétique Clinique, Hôpital Jeanne de Flandre [Lille]-Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS), Université de Rennes (UR)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Hôpital Charles Nicolle [Rouen], Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2010, 47 (1), pp.22-9. ⟨10.1136/jmg.2009.069732⟩
Journal of Medical Genetics, 2010, 47 (1), pp.22-9. ⟨10.1136/jmg.2009.069732⟩

مصطلحات موضوعية: MESH: Cerebrum, Haploidy, Epilepsy, 0302 clinical medicine, MESH: Child, MESH: Mental Retardation, MEF2C, Child, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), seizures, Genetics, 0303 health sciences, MEF2 Transcription Factors, MESH: Myogenic Regulatory Factors, MESH: Haploidy, MESH: Stereotypic Movement Disorder, MESH: Infant, Hypotonia, Stereotypic movement disorder, Myogenic Regulatory Factors, Child, Preschool, MESH: Epilepsy, Chromosomes, Human, Pair 5, Medical genetics, Chromosome Deletion, medicine.symptom, Haploinsufficiency, MESH: Chromosomes, Human, Pair 5, medicine.medical_specialty, MESH: Chromosome Deletion, 5q14.3 microdeletion, Nonsense mutation, Stereotypic Movement Disorder, MADS Domain Proteins, Biology, mental retardation, Article, MESH: MADS Domain Proteins, 03 medical and health sciences, Intellectual Disability, medicine, Humans, Cerebrum, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, MESH: Child, Preschool, Infant, medicine.disease, Developmental disorder, array-CGH, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13b1de3b4e94945354d9ea395e18d562Test
https://doi.org/10.1136/jmg.2009.069732Test

المؤلفون: Aline Dubos, André Hanauer, Solange Pannetier

المساهمون: 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, Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2008, 146A (10), pp.1267-79. ⟨10.1002/ajmg.a.32274⟩

مصطلحات موضوعية: Male, MESH: Chromosomes, Human, Pair 5, CDKL5, Chromosomal translocation, Protein Serine-Threonine Kinases, Biology, Translocation, Genetic, MESH: Protein-Serine-Threonine Kinases, MESH: Chromosomes, Human, X, Mice, 03 medical and health sciences, 0302 clinical medicine, X Chromosome Inactivation, MESH: B-Lymphocytes, Gene expression, Genetics, Animals, Humans, MESH: Mental Retardation, X-Linked, MESH: Animals, MESH: Cell Line, Transformed, Allele, MESH: Mice, Gene, Genetics (clinical), Cell Line, Transformed, 030304 developmental biology, B-Lymphocytes, Chromosomes, Human, X, 0303 health sciences, MESH: X Chromosome Inactivation, MESH: Humans, Autosome, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Molecular biology, MESH: Translocation, Genetic, MESH: Male, Mental Retardation, X-Linked, Intronic SNP, Chromosomes, Human, Pair 5, Female, Haploinsufficiency, MESH: Female, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3862ece9b2f003bc84bd4ac9c8e2068dTest
https://doi.org/10.1002/ajmg.a.32274Test

المؤلفون: David Mabey, Dominic P. Kwiatkowski, Gaia Luoni, Matthew J. Burton, Hassan Joof, Kirk A. Rockett, Robin L. Bailey, Martin J. Holland, Jeremy Hull, Angels Natividad

المساهمون: BMC, Ed., London School of Hygiene and Tropical Medicine (LSHTM), Génétique Humaine des Maladies Infectieuses (Inserm U980), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), The Wellcome Trust Centre for Human Genetics [Oxford], University of Oxford, Medical Research Council Laboratories, This work was supported by the Medical Research Council, UK and The Wellcome Trust, UK., Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), University of Oxford [Oxford], London School of Hygiene and Tropical Medicine ( LSHTM ), Génétique Humaine des Maladies Infectieuses ( Inserm U980 ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Wellcome Trust Centre for Human Genetics

المصدر: BMC Medical Genetics
BMC Medical Genetics, 2009, 10 (1), pp.138. ⟨10.1186/1471-2350-10-138⟩
BMC Medical Genetics, Vol 10, Iss 1, p 138 (2009)
BMC Medical Genetics, BioMed Central, 2009, 10 (1), pp.138. ⟨10.1186/1471-2350-10-138⟩
BMC Medical Genetics, BioMed Central, 2009, 10 (1), pp.138. 〈10.1186/1471-2350-10-138〉

مصطلحات موضوعية: Male, MESH : Aged, MESH: Base Sequence, Blindness, Linkage Disequilibrium, MESH: Blindness, MESH : Child, MESH : Gambia, MESH: Child, MESH: Epistasis, Genetic, Genetics(clinical), MESH: Genetic Variation, Child, Aged, 80 and over, 0303 health sciences, education.field_of_study, MESH: Middle Aged, MESH: Polymorphism, Single Nucleotide, MESH : Trachoma, MESH: Granulocyte-Macrophage Colony-Stimulating Factor, MESH : Granulocyte-Macrophage Colony-Stimulating Factor, MESH: Case-Control Studies, 3. Good health, MESH: Linkage Disequilibrium, MESH: Young Adult, Child, Preschool, Chromosomes, Human, Pair 5, Gambia, Chromosomes, Human, Pair 4, MESH: Trachoma, MESH : Case-Control Studies, MESH : Young Adult, Locus (genetics), 03 medical and health sciences, Cicatrix, MESH : Adolescent, Genetics, Humans, MESH : Middle Aged, MESH : Aged, 80 and over, education, lcsh:RC31-1245, MESH : Haplotypes, Trichiasis, Alleles, Aged, MESH: Adolescent, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, 030306 microbiology, MESH : Humans, MESH: Child, Preschool, Genetic Variation, Epistasis, Genetic, MESH: Adult, MESH: Matrix Metalloproteinase 9, MESH: Haplotypes, MESH : Cicatrix, medicine.disease, Immunity, Innate, MESH: Interleukin-8, Case-Control Studies, MESH : Blindness, Immunology, MESH : Alleles, [ SDV.GEN ] Life Sciences [q-bio]/Genetics, Chlamydia trachomatis, MESH: Female, Linkage disequilibrium, [SDV.GEN] Life Sciences [q-bio]/Genetics, MESH : Child, Preschool, medicine.disease_cause, MESH : Chromosomes, Human, Pair 5, MESH: Aged, 80 and over, MESH : Chromosomes, Human, Pair 4, Risk Factors, MESH: Risk Factors, MESH : Female, MESH : Matrix Metalloproteinase 9, Genetics (clinical), Keratoconjunctivitis, MESH : Epistasis, Genetic, MESH: Aged, MESH : Linkage Disequilibrium, MESH : Polymorphism, Single Nucleotide, MESH : Adult, MESH : Immunity, Innate, Middle Aged, MESH : Risk Factors, Trachoma, Matrix Metalloproteinase 9, Female, MESH: Immunity, Innate, Adult, MESH: Chromosomes, Human, Pair 5, MESH : Interleukin-8, lcsh:Internal medicine, MESH: Chromosomes, Human, Pair 4, Adolescent, lcsh:QH426-470, MESH : Male, Population, Biology, Polymorphism, Single Nucleotide, Young Adult, MESH : Genetic Variation, Research article, medicine, Allele, 030304 developmental biology, MESH: Cicatrix, Base Sequence, MESH: Alleles, Interleukin-8, Granulocyte-Macrophage Colony-Stimulating Factor, MESH: Male, lcsh:Genetics, MESH: Gambia, Haplotypes, MESH : Base Sequence

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d22032e3df007b0b7298c7b897c5feaTest
https://researchonline.lshtm.ac.uk/id/eprint/4207/1/1471-2350-10-138.pdfTest

المؤلفون: Leila Lazaro, Carla Rosenberg, Joris Andrieux, Marc Antoine Belaud-Rotureau, Véronique David, Ana Cristina Victorino Krepischi, Josette Lucas, Christèle Dubourg, Marine Le Brun, Sylvie Odent, Albert David, Débora Romeo Bertola, Sylvie Jaillard, Catherine Treguier, Jean Mosser, Ghislaine Plessis

المساهمون: Institut de Génétique et Développement de Rennes (IGDR), Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Laboratoire de Génétique Clinique, Hôpital Jeanne de Flandre [Lille]-Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de Génétique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Camargo Hospital, A. C. Camargo Hospital [São Paulo], Laboratoire de Génétique Moléculaire, Hôpital Pontchaillou, Clinical Genetics Unit, Instituto da Criança-Hospital das Clínicas-University of São Paulo (USP), Service d'ORL et de Chirurgie Cervicofaciale, Université Pierre et Marie Curie - Paris 6 (UPMC)-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)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Génétique Clinique, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-hôpital Sud, Service de radiologie et imagerie médicale [Rennes] = Radiology [Rennes], CHU Pontchaillou [Rennes], Department of Genetics and Evolutionary Biology, Institute of Biosciences-University of São Paulo (USP), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de génétique moléculaire et génomique médicale [CHU Rennes], Universidade de São Paulo = University of São Paulo (USP)-Instituto da Criança-Hospital das Clínicas, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de génétique clinique [Rennes], Université de Rennes (UR)-CHU Pontchaillou [Rennes]-hôpital Sud, Universidade de São Paulo = University of São Paulo (USP)-Institute of Biosciences, De Villemeur, Hervé

المصدر: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2011, 155A (4), pp.725-31. ⟨10.1002/ajmg.a.33758⟩
American Journal of Medical Genetics Part A, 2011, 155A (4), pp.725-31. ⟨10.1002/ajmg.a.33758⟩

مصطلحات موضوعية: Male, [SDV.GEN] Life Sciences [q-bio]/Genetics, MESH: Gene Order, 0302 clinical medicine, MESH: Child, MESH: Mental Retardation, Gene Order, Eye Abnormalities, Child, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), 5q12.1 deletion, MESH: Genetic Association Studies, Genetics, 0303 health sciences, Comparative Genomic Hybridization, Psychomotor retardation, Phenotype, MESH: Eye Abnormalities, Child, Preschool, Kinesin, Chromosomes, Human, Pair 5, Female, medicine.symptom, Chromosome Deletion, MESH: Chromosomes, Human, Pair 5, MESH: Chromosome Deletion, Biology, KIF2A gene, MESH: Phenotype, mental retardation, 03 medical and health sciences, Gene mapping, Critical regions, ocular anomalies, Intellectual Disability, [SDV.BDD] Life Sciences [q-bio]/Development Biology, medicine, Humans, Gene, Genetic Association Studies, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, MESH: Child, Preschool, medicine.disease, MESH: Male, Developmental disorder, MESH: Comparative Genomic Hybridization, array-CGH, MESH: Female, 030217 neurology & neurosurgery, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22a7eda08283236057f132b12c396c43Test
https://pubmed.ncbi.nlm.nih.gov/21594994Test

المؤلفون: Le Meur, Nathalie, Holder-Espinasse, Muriel, Jaillard, Sylvie, Goldenberg, Alice, Joriot, Sylvie, Amati-Bonneau, Patrizia, Guichet, Agnès, Barth, Magalie, Charollais, Aude, Journel, Hubert, Auvin, Stéphane, Boucher, Cécile, Kerckaert, Jean-Pierre, David, Véronique, Manouvrier-Hanu, Sylvie, Saugier-Veber, Pascale, Frébourg, Thierry, Dubourg, Christèle, Andrieux, Joris, Bonneau, Dominique

المساهمون: Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Laboratoire de Cytogénétique, Etablissement français du sang - Normandie (EFS), Service de Génétique clinique, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS), Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes (UR)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Service de Neuropédiatrie, Hôpital Roger Salengro [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Mitochondrie : Régulations et Pathologie, Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Service de pédiatrie néonatale et réanimation - neuropédiatrie [CHU Rouen], Hôpital Charles Nicolle [Rouen], Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, Génétique Médicale, Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA)-Hôpital Chubert, 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), Plateforme de Génomique Fonctionnelle, Université de Lille, Droit et Santé, Service de biologie moléculaire, Hôpital Pontchaillou, Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques, Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Génétique Clinique, Hôpital Jeanne de Flandre [Lille]-Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), De Villemeur, Hervé

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, 2010, 47 (1), pp.22-9. ⟨10.1136/jmg.2009.069732⟩

مصطلحات موضوعية: MESH: Chromosomes, Human, Pair 5, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, MESH: Chromosome Deletion, 5q14.3 microdeletion, MESH: Child, Preschool, MESH: Cerebrum, MESH: Myogenic Regulatory Factors, MESH: Haploidy, [SDV.GEN] Life Sciences [q-bio]/Genetics, MESH: Stereotypic Movement Disorder, mental retardation, MESH: Infant, MESH: MADS Domain Proteins, array-CGH, MESH: Child, MESH: Mental Retardation, MESH: Epilepsy, [SDV.BDD] Life Sciences [q-bio]/Development Biology, MEF2C, [SDV.BDD]Life Sciences [q-bio]/Development Biology, seizures

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______1398::a5f9ef145aeb9f6948b259496cddf0c9Test
https://www.hal.inserm.fr/inserm-00406331/documentTest

المؤلفون: Zak Kohane, Jeremy Goldberg, Carine Mantoulan, Shaun Purcell, Jessica Brian, Magdalena Laskawiec, Christopher A. Walsh, Irma Moilanen, Ridha Joober, Peter Szatmari, Olena Korvatska, Kerim Munir, James F. Gusella, Rudolph E. Tanzi, David L. Pauls, Generoso G. Gascon, Christine Stevens, Linda Lotspeich, John I. Nurnberger, Ramzi Nazir, Jonathan Green, Brian L. Yaspan, Marion Leboyer, Ann P. Thompson, Shun-Chiao Chang, Carolyn Bridgemohan, Louise Gallagher, Jeff Munson, Michael Gill, Guiqing Cai, Fritz Poustka, Regina Regan, Aislyn Cangialose, Gerard D. Schellenberg, Christopher J. McDougle, Christina Corsello, Wendy Roberts, Thomas H. Wassink, Majid Ghadami, Ellen M. Hanson, Benjamin M. Neale, Stacey Gabriel, Lonnie Zwaigenbaum, John Tsiantis, Hanna Ebeling, Sabine M. Klauck, Elaine LeClair, Bernie Devlin, Steven A. McCarroll, Ashley O'Connor, Andrew Pickles, Emily L. Crawford, Katja Jussila, Helen McConachie, Christopher Gillberg, Brenda E. Barry, Lou Kunkel, Seung Yun Yoo, Jennifer N. Partlow, Stephanie Brewster O'Neil, Ingrid A. Holm, Judith Miller, Guy A. Rouleau, Val C. Sheffield, Catherine Lord, Judith S. Palfrey, Ellen M. Wijsman, Astrid M. Vicente, Azam Hosseinipour, Ronald E. Becker, James S. Sutcliffe, Fred R. Volkmar, Marja Leena Mattila, Katerina Papanikolaou, Jennifer Reichert, Edwin H. Cook, Pamela Sklar, Elena Maestrini, Hilary Coon, Sek Won Kong, Stephen A. Haddad, Todd Green, Gillian Baird, Andrew Kirby, Patrick Bolton, Robert Sean Hill, Eric M. Morrow, Tom Berney, Jonathan L. Haines, Maryam Valujerdi, Casey Gates, David J. Posey, Karola Rehnström, Alistair T. Pagnamenta, Christine M. Freitag, Eric Fombonne, Janice Ware, Christian R. Marshall, Janine A. Lamb, Lauren A. Weiss, Agatino Battaglia, Nancy J. Minshew, Roksana Sasanfar, Elizabeth Baroni, Maretha de Jonge, Lennart von Wendt, Gina Hilton, Dalila Pinto, Nahit Motavalli Mukaddes, Ala Tolouei, Catalina Betancur, Michael Rutter, Tram Tran, Eftichia Duketis, Laurent Mottron, Margaret A. Pericak-Vance, Kristen West, Joachim Hallmayer, Kirsty Wing, Kerstin Wittemeyer, Rachel J. Hundley, Herman van Engeland, Judith Conroy, Mark J. Daly, Asif Hashmi, Michael L. Cuccaro, Geraldine Dawson, Sanna Kuusikko, Richard Anney, Anthony P. Monaco, Brian Winkloski, Samira Al-Saad, Dan E. Arking, Veronica J. Vieland, Stephen W. Scherer, Soher Balkhy, Kara Andresen, Rebecca L. Tomlinson, Joseph D. Buxbaum, Aravinda Chakravarti, Xiao-Qing Liu, Lindsay Jackson, Jaakko Ignatius, Catarina Correia, Leonard Rappaport, Heather Peters, Julie Gauthier, John R. Gilbert, Jeremy R. Parr, Carrie Sougnez, Katherine E. Tansey, Bennett L. Leventha, Annemarie Poustka, Daniel H. Geschwind, Annette Estes, Leena Peltonen, Maryam Rostami, Jeff Salt, David Altshuler, Simon Wallace, Susan E. Bryson, William M. Mahoney, Katy Renshaw, Robert M. Joseph, Lisa H. Albers, Inês Cabrito, Sean Ennis, Vanessa Hus, Guiomar Oliveira, Ann Le Couteur, Joseph Piven, Sandra L. Friedman, Penny Farrar, Joshua M. Korn, Sven Bölte, Camille W. Brune, Esau Simmons, Susan L. Santangelo, Andrew D. Paterson, Rita M. Cantor, Andrew B. West, Finny G Kuruvilla, Tiago R. Magalhaes, Andrew Green, Alison Schonwald, Stephen J. Guter, Anthony J. Bailey, Bernadette Rogé, William M. McMahon

المساهمون: Massachusetts General Hospital [Boston], Harvard Medical School [Boston] (HMS), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Johns Hopkins University (JHU), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Génétique de l'autisme = Genetics of Autism (NPS-01), Neuroscience Paris Seine (NPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Betancur, Catalina, University of Helsinki, Neurosciences Paris Seine (NPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), WEISS LA, ARKING DE, GENE DISCOVERY PROJECT OF JOHNS HOPKINS & THE AUTISM CONSORTIUM, DALY MJ, CHAKRAVARTI A, BRUNE CW, WEST K, O'CONNOR A, HILTON G, TOMLINSON RL, WEST AB, COOK EH JR, CHAKRAVARTI A, WEISS LA, GREEN T, CHANG SC, GABRIEL S, GATES C, HANSON EM, KIRBY A, KORN J, KURUVILLA F, MCCARROLL S, MORROW EM, NEALE B, PURCELL S, SASANFAR R, SOUGNEZ C, STEVENS C, ALTSHULER D, GUSELLA J, SANTANGELO SL, SKLAR P, TANZI R, DALY MJ, ANNEY R, BAILEY AJ, BAIRD G, BATTAGLIA A, BERNEY T, BETANCUR C, BÖLTE S, BOLTON PF, BRIAN J, BRYSON SE, BUXBAUM JD, CABRITO I, CAI G, CANTOR RM, COOK EH JR, COON H, CONROY J, CORREIA C, CORSELLO C, CRAWFORD EL, CUCCARO ML, DAWSON G, DE JONGE M, DEVLIN B, DUKETIS E, ENNIS S, ESTES A, FARRAR P, FOMBONNE E, FREITAG CM, GALLAGHER L, GESCHWIND DH, GILBERT J, GILL M, GILLBERG C, GOLDBERG J, GREEN A, GREEN J, GUTER SJ, HAINES JL, HALLMAYER JF, HUS V, KLAUCK SM, KORVATSKA O, LAMB JA, LASKAWIEC M, LEBOYER M, COUTEUR AL, LEVENTHAL BL, LIU XQ, LORD C, LOTSPEICH LJ, MAESTRINI E, MAGALHAES T, MAHONEY W, MANTOULAN C, MCCONACHIE H, MCDOUGLE CJ, MCMAHON WM, MARSHALL CR, MILLER J, MINSHEW NJ, MONACO AP, MUNSON J, NURNBERGER JI JR, OLIVEIRA G, PAGNAMENTA A, PAPANIKOLAOU K, PARR JR, PATERSON AD, PERICAK-VANCE MA, PICKLES A, PINTO D, PIVEN J, POSEY DJ, POUSTKA A, POUSTKA F, REGAN R, REICHERT J, RENSHAW K, ROBERTS W, ROGE B, RUTTER ML, SALT J, SCHELLENBERG GD, SCHERER SW, SHEFFIELD V, SUTCLIFFE JS, SZATMARI P, TANSEY K, THOMPSON AP, TSIANTIS J, VAN ENGELAND H, VICENTE AM, VIELAND VJ, VOLKMAR F, WALLACE S, WASSINK TH, WIJSMAN EM, WING K, WITTEMEYER K, YASPAN BL, ZWAIGENBAUM L, MORROW EM, YOO SY, HILL RS, MUKADDES NM, BALKHY S, GASCON G, AL-SAAD S, HASHMI A, WARE J, JOSEPH RM, LECLAIR E, PARTLOW JN, BARRY B, WALSH CA, PAULS D, MOILANEN I, EBELING H, MATTILA ML, KUUSIKKO S, JUSSILA K, IGNATIUS J, SASANFAR R, TOLOUEI A, GHADAMI M, ROSTAMI M, HOSSEINIPOUR A, VALUJERDI M, SANTANGELO SL, ANDRESEN K, WINKLOSKI B, HADDAD S, KUNKEL L, KOHANE Z, TRAN T, KONG SW, O'NEIL SB, HANSON EM, HUNDLEY R, HOLM I, PETERS H, BARONI E, CANGIALOSE A, JACKSON L, ALBERS L, BECKER R, BRIDGEMOHAN C, FRIEDMAN S, MUNIR K, NAZIR R, PALFREY J, SCHONWALD A, SIMMONS E, RAPPAPORT LA, GAUTHIER J, MOTTRON L, JOOBER R, FOMBONNE E, ROULEAU G, REHNSTROM K, VON WENDT L, PELTONEN L.

المصدر: Nature
Nature, 2009, 461 (7265), pp.802-808. ⟨10.1038/nature08490⟩
Nature, Nature Publishing Group, 2009, 461 (7265), pp.802-808. ⟨10.1038/nature08490⟩

مصطلحات موضوعية: Perturbação Autística, Internationality, Genetic Linkage, Genome-wide association study, MESH: Semaphorins, Semaphorins, [SDV.GEN] Life Sciences [q-bio]/Genetics, 0302 clinical medicine, Neurodevelopmental disorder, Heritability of autism, MESH: Nerve Tissue Proteins, Association mapping, Genetics, 0303 health sciences, Multidisciplinary, MESH: Polymorphism, Single Nucleotide, MESH: Genetic Predisposition to Disease, Brain, Chromosome Mapping, Chromosomes, Human, Pair 5, MESH: Membrane Proteins, MESH: Chromosomes, Human, Pair 5, MESH: Autistic Disorder, MESH: Genetic Linkage, Single-nucleotide polymorphism, Nerve Tissue Proteins, Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, MESH: Brain, Genetic linkage, medicine, Humans, Genetic Predisposition to Disease, Autistic Disorder, MESH: Sample Size, 030304 developmental biology, Genetic association, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, Membrane Proteins, medicine.disease, Sample Size, Perturbações do Desenvolvimento Infantil e Saúde Mental, MESH: Genome-Wide Association Study, MESH: Internationality, Autism, MESH: Chromosome Mapping, Predisposição Genética para Doença, 030217 neurology & neurosurgery, Genome-Wide Association Study

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::399dbcded0de45863411f1e50a5de20fTest
https://www.hal.inserm.fr/inserm-03135302Test

المؤلفون: Philippe Gaulard, Marie-Hélène Delfau-Larue, Andreas Chott, Christiane Copie-Bergman, Berthold Streubel, Teresa Marafioti, Giovanna Roncador, Steven Le Gouill, Barbara Petit, Corinne Haioun, Bettina Fabiani, Nadine Martin-Garcia, Yenlin Huang, Fanny Gaillard, Jehan Dupuis, Marwan Qubaja, Anne Moreau

المساهمون: Institut Mondor de recherche biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Département de pathologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre de Recherche en Cancérologie Nantes-Angers (CRCNA), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM)-Hôtel-Dieu de Nantes-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Laennec-Centre National de la Recherche Scientifique (CNRS)-Faculté de Médecine d'Angers-Centre hospitalier universitaire de Nantes (CHU Nantes), Service d'hématologie clinique, Departement of Pathology, Medizinische Universität Wien = Medical University of Vienna, Service d'Hématologie biologique [CHU Limoges], CHU Limoges, Hôpital Hôtel-Dieu [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Pathologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôtel-Dieu, Service d'anatomie et cytologie pathologiques [CHU Saint-Antoine], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Monoclonal antibodies unit, Centro Nacional de Investigaciones Oncológicas, Service d'immunologie biologique, Leukaemia Research Immunodiagnostics Unit, University of Oxford [Oxford]- John Radcliffe Hospital [Oxford University Hospital], Guellaen, Georges, University of Oxford- John Radcliffe Hospital [Oxford University Hospital]

المصدر: American Journal of Surgical Pathology
American Journal of Surgical Pathology, Lippincott, Williams & Wilkins, 2009, 33 (5), pp.682-90. ⟨10.1097/PAS.0b013e3181971591⟩
American Journal of Surgical Pathology, 2009, 33 (5), pp.682-90. ⟨10.1097/PAS.0b013e3181971591⟩

مصطلحات موضوعية: Antigens, Differentiation, T-Lymphocyte, Pathology, Biopsy, Programmed Cell Death 1 Receptor, MESH: Antigens, CD4, Translocation, Genetic, MESH: Immunoblastic Lymphadenopathy, MESH: Genotype, MESH: Lymphoma, Follicular, MESH: Biopsy, 0302 clinical medicine, Immunophenotyping, MESH: Aged, 80 and over, follicular helper T cell, hemic and lymphatic diseases, MESH: In Situ Hybridization, Fluorescence, Lymphoma, Follicular, peripheral T-cell lymphoma, MESH: Antigens, CD, In Situ Hybridization, Fluorescence, Aged, 80 and over, MESH: Aged, 0303 health sciences, MESH: Middle Aged, MESH: Neprilysin, T-Lymphocytes, Helper-Inducer, MESH: Gene Expression Regulation, Neoplastic, MESH: Neoplasm Staging, Middle Aged, MESH: Lymphoma, T-Cell, Peripheral, MESH: Gene Rearrangement, T-Lymphocyte, MESH: Translocation, Genetic, 3. Good health, DNA-Binding Proteins, Europe, Gene Expression Regulation, Neoplastic, Phenotype, medicine.anatomical_structure, B symptoms, 030220 oncology & carcinogenesis, CD4 Antigens, Proto-Oncogene Proteins c-bcl-6, Chromosomes, Human, Pair 5, Neprilysin, MESH: Chemokine CXCL13, Anatomy, medicine.symptom, Chromosomes, Human, Pair 9, Adult, MESH: Chromosomes, Human, Pair 5, medicine.medical_specialty, Angioimmunoblastic T-cell lymphoma, Genotype, MESH: Immunophenotyping, T cell, Biology, Gene Rearrangement, T-Lymphocyte, MESH: Phenotype, Follicular cell, Article, Pathology and Forensic Medicine, angioimmunoblastic T-cell lymphoma, Inducible T-Cell Co-Stimulator Protein, 03 medical and health sciences, Antigens, CD, medicine, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, MESH: T-Lymphocytes, Helper-Inducer, Aged, Neoplasm Staging, 030304 developmental biology, MESH: Humans, MESH: Apoptosis Regulatory Proteins, Lymphoma, T-Cell, Peripheral, MESH: Adult, Gene rearrangement, medicine.disease, Chemokine CXCL13, Peripheral T-cell lymphoma, Lymphoma, MESH: Antigens, Differentiation, T-Lymphocyte, Immunoblastic Lymphadenopathy, Surgery, MESH: Europe, Apoptosis Regulatory Proteins, MESH: Chromosomes, Human, Pair 9, MESH: DNA-Binding Proteins

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f808a4e261c9f7222f48be44ed7042edTest
https://www.hal.inserm.fr/inserm-00385332/file/AJSP-D-08-00174R2.pdfTest

المؤلفون: Laurent Villard, Orsetta Zuffardi, Francesca Novara, Carlos Cardoso, Ingrid E. Scheffer, Brigitte Chabrol, E. Pallesi, Sabrina Khantane, Sabrina Giglio, Anne Moncla, Enrico Bertini, Cécile Mignon-Ravix, Ellena Parrini, Jacinta M McMahon, Chantal Missirian, Renzo Guerrini, Howard R. Slater, Amber Boys

المساهمون: Institut de Neurobiologie de la Méditerranée [Aix-Marseille Université] (INMED - INSERM U1249), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Victorian Clinical Genetics Services, Pediatric Neurology & Neurogenetics Unit and Laboratories, Università degli Studi di Firenze = University of Florence (UniFI)-Children's Hospital A. Meyer, Departments of Medicine and Paediatrics, University of Melbourne-Austin Health, Department of Laboratory Medicine, IRCCS Ospedale Pediatrico Bambino Gesù [Roma], Unit of Molecular Medicine, IRCCS, Genetica Medica, Università degli Studi di Pavia = University of Pavia (UNIPV), Medical Genetics Unit, Service de pédiatrie et neurologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU), Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI)-Children's Hospital A. Meyer, Università degli Studi di Pavia, Tyzio, Roman

المصدر: Neurology
Neurology, 2009, 72 (9), pp.784-92. ⟨10.1212/01.wnl.0000336339.08878.2d⟩
Neurology, American Academy of Neurology, 2009, 72 (9), pp.784-92. ⟨10.1212/01.wnl.0000336339.08878.2d⟩

مصطلحات موضوعية: Male, Microcephaly, Candidate gene, Epilepsy, Lateral ventricles, 0302 clinical medicine, Periventricular Nodular Heterotopia, MESH: Mental Retardation, MESH: Periventricular Nodular Heterotopia, FLNA, MESH: Syndrome, Genetics, MESH: Aged, 0303 health sciences, Comparative Genomic Hybridization, MESH: Middle Aged, Chromosome Mapping, Syndrome, Middle Aged, MESH: Young Adult, MESH: Epilepsy, Chromosomes, Human, Pair 5, Female, Psychology, Adult, MESH: Chromosomes, Human, Pair 5, Adolescent, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, 03 medical and health sciences, Young Adult, Fetus, Intellectual Disability, medicine, Humans, [SDV.BC] Life Sciences [q-bio]/Cellular Biology, 030304 developmental biology, Aged, MESH: Adolescent, MESH: Humans, Genetic heterogeneity, MESH: Adult, MESH: Fetus, medicine.disease, MESH: Male, Xq28, MESH: Comparative Genomic Hybridization, MESH: Gene Deletion, Neurology (clinical), MESH: Chromosome Mapping, Neuroscience, MESH: Female, 030217 neurology & neurosurgery, Gene Deletion, Comparative genomic hybridization

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07d6a0f9aef8d8b30219a382e007dc4cTest
https://www.hal.inserm.fr/inserm-00483473/file/Cardoso_Neurology_2009.pdfTest

المؤلفون: Audrey Delerue-Audegond, Sandra Schmieder, Marie-Jeanne Arguel, Fleur Darré-Toulemonde, Richard Christen, Jean-Louis Nahon

المساهمون: Laboratoire de physiologie des membranes cellulaires (LPMC), Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Institut de pharmacologie moléculaire et cellulaire (IPMC), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS), Institut de signalisation, biologie du développement et cancer (ISBDC), Centre National de la Recherche Scientifique (CNRS)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA)

المصدر: BMC Evolutionary Biology
BMC Evolutionary Biology, BioMed Central, 2008, 8, pp.330. ⟨10.1186/1471-2148-8-330⟩
BMC Evolutionary Biology, Vol 8, Iss 1, p 330 (2008)
Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: Male, MESH: Protein Precursors, RNA, Untranslated, MESH: Introns, MESH: Amino Acid Sequence, Conserved sequence, MESH: RNA, Untranslated, Exon, 0302 clinical medicine, Testis, MESH: Animals, ORFS, MESH: Phylogeny, [SDV.BDD]Life Sciences [q-bio]/Development Biology, MESH: Evolution, Molecular, Phylogeny, Genetics, 0303 health sciences, Hypothalamic Hormones, MESH: Testis, MESH: Macaca, Brain, Exons, 3. Good health, MESH: Primates, RNA splicing, Chromosomes, Human, Pair 5, Research Article, MESH: Chromosomes, Human, Pair 5, Adult, Primates, Lineage (genetic), Evolution, Sequence analysis, RNA Splicing, Molecular Sequence Data, MESH: Sequence Alignment, Biology, Evolution, Molecular, MESH: Brain, 03 medical and health sciences, QH359-425, Animals, Humans, Amino Acid Sequence, Protein Precursors, Gene, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, MESH: Molecular Sequence Data, MESH: Humans, Intron, MESH: Adult, MESH: Male, Introns, MESH: Hypothalamic Hormones, Macaca, MESH: RNA Splicing, MESH: Exons, Sequence Alignment, 030217 neurology & neurosurgery

وصف الملف: 630044 bytes; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b24249e2070df6a040bec93fe14ad4eTest
http://hdl.handle.net/10261/9619Test