المؤلفون: Aziza Lebbar, Sandra Chantot-Bastaraud, Catherine Yardin, Ghislaine Plessis, Patrick Edery, Damien Sanlaville, Laurence Faivre, Aline Receveur, Anne Claude Tabet, Solveig Heide, Laila El Khattabi, Patrick Callier, Christine Francannet, Alice Goldenberg, Eva Pipiras, Michèle Mathieu-Dramard, Chantal Missirian, Odile Boute-Benejean, Cécile Laroche, C. Francois-Fiquet, Pascal Garnier, Alice Masurel-Paulet, Nathalie Marle, Marion Gérard, Jean Michel Dupont, Alexandra Afenjar, Martine Doco Fenzy, Anne Moncla, Marie Pierre Cordier, Brigitte Benzacken, Jean-Hubert Caberg, Gaetan Lesca, Loïc de Pontual, Christine Ioos, Massimiliano Rossi, Nathalie Le Meur, Andrée Delahaye-Duriez, Joris Andrieux, Caroline Vincent-Delorme, Siham Chafai Elalaoui, Lesley Suiro, Philippe Vago, Anne-Laure Mosca-Boidron, Abdelhafid Natiq

المساهمون: Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Descartes - Paris 5 (UPD5), Université Sorbonne Paris Cité (USPC), Université Paris Descartes - Faculté de Médecine (UPD5 Médecine), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), [Institut Cochin] Département Développement, Reproduction et Cancer (DRC), 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 Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de génétique, CHU du Sart-Tilman, Laboratoire de Génétique Médicale, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), CHU Trousseau [APHP], Unité Fonctionnelle de Génétique Clinique [CHU Pitié Salpétrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Unité de Génétique Médicale, Hôtel-Dieu-CHU Clermont-Ferrand, CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Laboratoire de cytogénétique (CHU de Dijon), 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), Service de génétique médicale, CHU Amiens-Picardie, 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), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hospices Civils de Lyon (HCL), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Jean Verdier [AP-HP], Handicaps génétiques de l'enfant (Inserm U393), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Raymond-Poincaré Hospital, Département de Génétique Médicale [INH Rabat], Institut National d'Hygiène, Rabat, Morocco, Service d'histologie, embryologie et cytogénétique [Béclère], Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère [Clamart], Equipe de Recherche Médicale Appliquée (ERMA), Université de Limoges (UNILIM)-CHU Limoges-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503), BIO-INGENIERIE (XLIM-BIO-INGENIERIE), XLIM (XLIM), Université de Limoges (UNILIM)-Centre National de la Recherche Scientifique (CNRS)-Université de Limoges (UNILIM)-Centre National de la Recherche Scientifique (CNRS), Service de Pédiatrie médicale [CHU Limoges], CHU Limoges, Génétique Médicale, CHU Clermont-Ferrand-CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand, Imagerie Moléculaire et Stratégies Théranostiques (IMoST), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Centre Hospitalier Universitaire de Liège (CHU-Liège), Hôpital Jeanne de Flandre [Lille], Centre Hospitalier Universitaire de Reims (CHU Reims), IFR53, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Côte de Nacre [CHU Caen], CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), AP-HP Hôpital universitaire Robert-Debré [Paris], Hôpital Raymond Poincaré [AP-HP], Hôpital Maison Blanche, Hôpital Robert Debré, Hôpital Robert Debré-Centre Hospitalier Universitaire de Reims (CHU Reims), Centre National de la Recherche Scientifique (CNRS)-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 Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Centre de recherche en neurosciences de Lyon (CRNL), Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Université de Limoges (UNILIM)-CHU Limoges, Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2018, ⟨10.1136/jmedgenet-2018-105389⟩
Journal of Medical Genetics, 2018, ⟨10.1136/jmedgenet-2018-105389⟩

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, Autism Spectrum Disorder, Developmental Disabilities, Disease, 030105 genetics & heredity, Neurodevelopmental disorder, Risk Factors, Gene Duplication, Medicine, Child, Genetics (clinical), miR-484, 3. Good health, Phenotype, Cardiovascular Diseases, Autism spectrum disorder, Child, Preschool, Speech delay, Female, medicine.symptom, Microtubule-Associated Proteins, NDE1, Adult, medicine.medical_specialty, Adolescent, Genetic counseling, MYH11, [SDV.CAN]Life Sciences [q-bio]/Cancer, Context (language use), Young Adult, 03 medical and health sciences, Intellectual Disability, mental disorders, Genetics, Humans, Abnormalities, Multiple, Clinical significance, Genetic Association Studies, business.industry, Infant, medicine.disease, neurodevelopmental disorder, 16p13.11 duplication, MicroRNAs, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, business, Neurocognitive, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4668558e248a2f20321235b0164a3f1Test
https://doi.org/10.1136/jmedgenet-2018-105389Test

المؤلفون: Alessia Paganotti, Marco Orsello, Corrado Magnani, Silvano Andorno, Massimo Sartori, Francesca Mercalli, Renzo Boldorini, Stefania Orlando, Marco Ballarè

المصدر: Journal of Clinical Pathology. 68:283-287

مصطلحات موضوعية: Male, Heterozygote, medicine.medical_specialty, Cost-Benefit Analysis, Cytodiagnosis, Constriction, Pathologic, Digestive System Neoplasms, Malignancy, Gastroenterology, Pathology and Forensic Medicine, Surgical pathology, Predictive Value of Tests, Internal medicine, Pancreatic cancer, Cytology, Biomarkers, Tumor, medicine, Humans, Genetic Predisposition to Disease, In Situ Hybridization, Fluorescence, Aged, Aged, 80 and over, Cholangiopancreatography, Endoscopic Retrograde, Cholestasis, Endoscopic retrograde cholangiopancreatography, medicine.diagnostic_test, business.industry, Gallbladder, Homozygote, Cancer, Health Care Costs, General Medicine, Middle Aged, Jaundice, Aneuploidy, Prognosis, medicine.disease, Jaundice, Obstructive, Phenotype, medicine.anatomical_structure, Italy, Female, Chromosome Deletion, medicine.symptom, Chromosomes, Human, Pair 9, business, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2384ddf179222f02f5c562b604c6ce79Test
https://doi.org/10.1136/jclinpath-2014-202731Test

المؤلفون: Adam E Frampton, Tamara M H Gall

المصدر: Journal of Clinical Pathology. 66:928-932

مصطلحات موضوعية: Epithelial-Mesenchymal Transition, Loss of Heterozygosity, Biology, Cell junction, Pathology and Forensic Medicine, CDH1, Adherens junction, Cell–cell interaction, Antigens, CD, Neoplasms, Cell Adhesion, Humans, Promoter Regions, Genetic, Cell adhesion, Epithelial polarity, Cadherin, Cell adhesion molecule, Tumor Suppressor Proteins, Cell Differentiation, Epithelial Cells, Adherens Junctions, General Medicine, DNA Methylation, Cadherins, Cell biology, Multiprotein Complexes, biology.protein, Chromosomes, Human, Pair 16, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b68337f6ba1ae5b751e64f6a3de9cec4Test
https://doi.org/10.1136/jclinpath-2013-201768Test

المؤلفون: Sevim Erdem, Gülşen Köse, L. Cavalier, Michel Koenig, Ercan Demir, Pascale Bomont, Haluk Topaloglu, Pascale Guicheney, S Muftuoglu, Sabiha Aysun, Mehmet Demirci, Meral Topçu, E Tan, A N Cakar

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), Çocuk Sağlığı ve Hastalıkları

المصدر: Journal of Neurology, Neurosurgery and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2005, 76 (6), pp.825-32. ⟨10.1136/jnnp.2003.035162⟩

مصطلحات موضوعية: Male, Pathology, Genetic Linkage, Biopsy, DNA Mutational Analysis, Gene mutation, MESH: Magnetic Resonance Imaging, MESH: Biopsy, 0302 clinical medicine, Mutation Carrier, MESH: Child, MESH: DNA Mutational Analysis, Child, Skin, Giant axonal neuropathy, Psychiatry, 0303 health sciences, Gigaxonin, MESH: Genetic Heterogeneity, Electroencephalography, Magnetic Resonance Imaging, Pedigree, 3. Good health, Psychiatry and Mental health, Phenotype, medicine.anatomical_structure, Child, Preschool, Female, medicine.symptom, Paper, MESH: Axons, medicine.medical_specialty, MESH: Demyelinating Diseases, Neuromuscular disease, Adolescent, MESH: Pedigree, Biology, MESH: Phenotype, MESH: Electromyography, White matter, Genetic Heterogeneity, 03 medical and health sciences, MESH: Skin, Sural Nerve, MESH: Electroencephalography, medicine, Humans, Point Mutation, MESH: Point Mutation, 030304 developmental biology, MESH: Adolescent, MESH: Humans, Cerebellar ataxia, Electromyography, MESH: Child, Preschool, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, MESH: Haplotypes, medicine.disease, MESH: Male, Axons, MESH: Sural Nerve, Peripheral neuropathy, Haplotypes, Surgery, Neurosciences & Neurology, MESH: Microsatellite Repeats, Neurology (clinical), MESH: Female, MESH: Linkage (Genetics), MESH: Chromosomes, Human, Pair 16, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery, Demyelinating Diseases, Microsatellite Repeats

وصف الملف: text/plain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92adda23bf5ac4683338576f4ef845f2Test
https://doi.org/10.1136/jnnp.2003.035162Test

المؤلفون: Pawel Stankiewicz, Amber Stocco, Marwan Shinawi, Leslie J. Allison, Amber Pursley, Steven Sparagana, Diana L. Rodriguez, William J. Craigen, John W. Belmont, Beth A. Kozel, Ankita Patel, Thaddeus W. Kurczynski, Sau Wai Cheung, Sarah Savage, Gary D. Clark, Stephen Amato, Frank J. Probst, Monica Proud, Elizabeth Roeder, Jennifer A. Lee, James R. Lupski, Daryl A. Scott, Susan G. McGrew, Pengfei Liu, Arthur L. Beaudet, Sung Hae L. Kang, Joseph J. Shen, Brett H. Graham

المصدر: Journal of Medical Genetics. 47:332-341

مصطلحات موضوعية: Male, Microcephaly, Adolescent, Developmental Disabilities, Biology, Article, Craniofacial Abnormalities, Young Adult, Epilepsy, Segmental Duplications, Genomic, Intellectual Disability, Gene duplication, Genetics, medicine, Humans, Abnormalities, Multiple, Language Development Disorders, Global developmental delay, Autistic Disorder, Child, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Segmental duplication, Chromosome Aberrations, Comparative Genomic Hybridization, Macrocephaly, Infant, medicine.disease, Developmental disorder, Phenotype, Attention Deficit Disorder with Hyperactivity, Child, Preschool, Autism, Female, Chromosome Deletion, medicine.symptom, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::533150e2e054efa0b939edb3d816dbfdTest
https://doi.org/10.1136/jmg.2009.073015Test

المؤلفون: Tracey Willis, M Groves, Henry Houlden, John B Winer, Gaynor Cole, Helen Roper, Mary M. Reilly, Zosia Miedzybrodzka

المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 78:1267-1270

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Genotype, Biopsy, DNA Mutational Analysis, Short Report, Genetic Carrier Screening, Genes, Recessive, Biology, medicine.disease_cause, Compound heterozygosity, Nerve Fibers, Myelinated, Sural Nerve, medicine, Humans, Child, Giant axonal neuropathy, Chromosome Aberrations, Neurologic Examination, Genetics, Mutation, Nerve biopsy, medicine.diagnostic_test, Homozygote, Gigaxonin, Brain, medicine.disease, Phenotype, Axons, Cytoskeletal Proteins, Microscopy, Electron, Psychiatry and Mental health, Child, Preschool, Female, Surgery, Neurology (clinical), Nervous System Diseases, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::978f90fd16baa9c5a999e538c19b51e3Test
https://doi.org/10.1136/jnnp.2007.118968Test

المؤلفون: Sophia Katsarou, Effie Panayotopoulou, Ioanna Giannopoulou, Ioanna Tsirmpa, Lydia Nakopoulou, Antonios Keramopoulos, Eleni Mylona, Paraskevi Alexandrou

المصدر: Journal of Clinical Pathology. 60:808-815

مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Aneuploidy, Breast Neoplasms, Biology, Pathology and Forensic Medicine, Immunoenzyme Techniques, Chromosome 16, Breast cancer, medicine, Humans, Neoplasm Invasiveness, In Situ Hybridization, X chromosome, Survival analysis, Aged, Neoplasm Staging, Aged, 80 and over, Chromosomes, Human, X, Polysomy, Cytogenetics, General Medicine, Middle Aged, Prognosis, medicine.disease, Survival Analysis, Phenotype, Cancer research, Female, Original Article, Breast carcinoma, Chromosomes, Human, Pair 16, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb03db23177cf7ce38f12b237407a523Test
https://doi.org/10.1136/jcp.2006.037838Test

المؤلفون: Eamonn Sheridan, G. A. Williams, Chris F. Inglehearn, John Bradbury, T J Keen, B Pal, Moin Mohamed

المصدر: Journal of Medical Genetics. 41:772-777

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, genetic structures, Glaucoma, Genes, Recessive, Biology, Consanguinity, Dysgenesis, Cornea, Genetics, medicine, Humans, Eye Abnormalities, Genetics (clinical), Coloboma, Corectopia, Chromosome Mapping, Anatomy, medicine.disease, eye diseases, Pedigree, Microcornea, Phenotype, medicine.anatomical_structure, Haplotypes, Aniridia, Female, Polycoria, sense organs, Lod Score, medicine.symptom, Chromosomes, Human, Pair 16, Letter to JMG

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ebd8fedb6bf5a07dd552686f5ffb975Test
https://doi.org/10.1136/jmg.2004.020040Test

المؤلفون: Benoit Arveiler, I. Burgelin, Marche M, Didier Lacombe, M. Stef, Roudaut C, Laurence Taine, Cruaud C, M. A. Delrue, Isabelle Coupry

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Male, medicine.medical_specialty, DNA Mutational Analysis, Molecular Sequence Data, medicine.disease_cause, Polymerase Chain Reaction, Cohort Studies, Exon, Complementary DNA, Molecular genetics, Genetics, medicine, Humans, RNA, Messenger, CREB-binding protein, Gene, Genetics (clinical), Sequence Deletion, Chromosome Aberrations, Rubinstein-Taybi Syndrome, Mutation, Base Sequence, Rubinstein–Taybi syndrome, biology, Nuclear Proteins, Blotting, Northern, medicine.disease, CREB-Binding Protein, Molecular biology, Blotting, Southern, Phenotype, Trans-Activators, Cosmid, biology.protein, Female, Chromosomes, Human, Pair 16, Letter to JMG

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fdfb51815660f70d291871b0dc5c00aTest
https://doi.org/10.1136/jmg.39.6.415Test

المؤلفون: Peter D Forsyth, David A. Levison, John R. Goodlad, Paul J Batstone, Katherine E Robertson

المصدر: Journal of Clinical Pathology. 60:433-435

مصطلحات موضوعية: Adult, Benign condition, medicine.medical_specialty, Pathology, Case Report, Chromosomal translocation, Karyotype, Context (language use), Anatomical pathology, General Medicine, Disease, Biology, Translocation, Genetic, Pathology and Forensic Medicine, Malignant lymphoma, Chromosomes, Human, Pair 2, Karyotyping, Chromosomal Abnormality, medicine, Humans, Female, Lymph Nodes, Histiocytic Necrotizing Lymphadenitis, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::409602dbc39ee5b9124c8695ae11441fTest
https://doi.org/10.1136/jcp.2006.038646Test