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المؤلفون: Aida M. Bertoli-Avella, José Pedro Vieira, Ana Berta Sousa, Juliette Dupont, Ana Lisa Taylor Tavares, Carla Conceição, Suliman Khan
المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAPمصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Aplasia/Hypoplasia, Developmental Disabilities, Hearing Loss, Sensorineural, Keratoconjunctivitis, Dwarfism, Nerve Tissue Proteins, HDE NEU PED, Congenital cranial dysinnervation disorder, Vestibulo-cochlear nerve aplasia, 030105 genetics & heredity, 03 medical and health sciences, Intellectual Disability, NEUROG1, Oromotor dysfunction, Basic Helix-Loop-Helix Transcription Factors, Genetics, medicine, Humans, Missense mutation, Trigeminal Nerve, Corneal reflex, Child, Cochlear Nerve, Genetics (clinical), Loss function, business.industry, Cranial nerves, Sensorineural deafness, medicine.disease, Hypoplasia, Hypotonia, 030104 developmental biology, Neurodevelopmental Disorders, HDE NRAD, Atresia, Muscle Hypotonia, Sensorineural hearing loss, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1917920b05803f89457674d8a524a2e9Test
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المؤلفون: Guiomar Oliveira, Marjan M. Weiss, Cristina Martins, Patrícia Maciel, Sónia Figueiroa, Diana Antunes, Cecília Martins, Gisela Barros, Susana Loureiro, C.C. Marques, Susana Sousa, Andreia Dias, Sofia Oliveira Lopes, Margarida Reis-Lima, Maria João Sá, Arminda Jorge, Céu Mota, Gabriela Soares, Fátima Torres, Mafalda Barbosa, Frederico Duque, João Silva, Maria José Cálix, Miguel Rocha, Elisa Cardoso, Catarina Gomes, Sara Cruz, Fátima Lopes, Sara Figueiredo, Purificação Tavares, Teresa Temudo, Ana Maria Fortuna, Juliette Dupont, Felisbela Rocha, Adriana Sampaio, Bauke Ylstra, Jorge Pinto-Basto, Paul P. Eijk, Paula Rendeiro, Sandra Mesquita, Susana Gama-de-Sousa, Joaquim Sá
المساهمون: Instituto de Investigação e Inovação em Saúde, Human genetics, Pathology, Universidade do Minho
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 14(1):164. BioMed Central
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)
Lopes, F T, Torres, F T, Soares, G, Barbosa, M, Silva, J, Duque, F, Rocha, M, Sá, J, Oliveira, G, Sá, M J, Temudo, T, Sousa, S, Marques, C, Lopes, S, Gomes, C, Barros, G, Jorge, A, Rocha, F, Martins, C, Mesquita, S, Loureiro, S, Cardoso, E M, Cálix, M J, Dias, A, Martins, C, Mota, C U R, Antunes, D, Dupont, J, Figueiredo, S, Figueiroa, S N, Gama-de-Sousa, S, Cruz, S, Sampaio, A, Eijk, P, Weiss, M M, Ylstra, B, Rendeiro, P, Tavares, P, Reis-Lima, M, Pinto-Basto, J, Fortuna, A M & Maciel, P 2019, ' Genomic imbalances defining novel intellectual disability associated loci ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, 164, pp. 164 . https://doi.org/10.1186/s13023-019-1135-0Test, https://doi.org/10.1186/s13023-019-1135-0Test
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, Genotype-phenotype correlation, endocrine system diseases, Medicina Básica [Ciências Médicas], Neurodevelopment, lcsh:Medicine, Disease, 030105 genetics & heredity, 0302 clinical medicine, Intellectual disability, Pharmacology (medical), Copy-number variation, Genetics (clinical), Genetics, Comparative Genomic Hybridization, General Medicine, Genomics, Phenotype, 3. Good health, Pedigree, Ciências Médicas::Medicina Básica, Female, DNA Copy Number Variations, Copy number analysis, Biology, Histone-Lysine N-Methyltransferase / genetics, 03 medical and health sciences, DNA Copy Number Variations / genetics, Intellectual Disability, mental disorders, medicine, Humans, Intellectual Disability / genetics, Genetic Association Studies, CNVs, Chromosome Aberrations, Science & Technology, Research, lcsh:R, Histone-Lysine N-Methyltransferase, medicine.disease, Human genetics, CNVs, Neurodevelopment, Genotype-phenotype correlation, CUL4B overexpression, Etiology, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a79b20530bd567d73d202397027baceTest
https://hdl.handle.net/10216/139000Test -
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المؤلفون: Vera M. Kalscheuer, Céline Bonnet, Stefan A. Haas, Pierre Cacciagli, Sébastien Moutton, Emilie Landais, Laurent Villard, Jacques Motte, Ana Medeira, Martine Doco-Fenzy, Heng-Ye Man, Lionel Van Maldergem, Arjan P.M. de Brouwer, Marlène Rio, Christelle Cabrol, Juliette Dupont, Qingming Hou, Laurence Colleaux
المساهمون: Université Bourgogne Franche-Comté ( UBFC ), Boston University [Boston] ( BU ), Human Molecular Genetics, CHU Necker - Enfants Malades [AP-HP], 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 de Génétique, Centre Hospitalier Universitaire de Reims ( CHU Reims ) -Hôpital Maison Blanche-IFR 53, Université de Reims Champagne-Ardenne ( URCA ) -Université de Reims Champagne-Ardenne ( URCA ), Institute of Medical Genetics, Radboud University Medical Center [Nijmegen], Neuroscience Paris Seine ( NPS ), 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 ), Max Planck Institute for Molecular Genetics, Génétique Médicale et Génomique Fonctionnelle ( GMGF ), 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 ) -Centre National de la Recherche Scientifique ( CNRS ), Service de Génétique Médicale du CHU de Bordeaux, Service de génétique [Reims], Centre Hospitalier Universitaire de Reims ( CHU Reims ), Service de Génétique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Nutrition-Génétique et Exposition aux Risques Environnementaux ( NGERE ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université de Lorraine ( UL ), Sciences Po Grenoble - Institut d'études politiques de Grenoble ( IEPG ), Regional Hospital, Boston University [Boston] (BU), Department Human Molecular Genetics [MPIMG Berlin], Max Planck Institute for Molecular Genetics (MPIMG), Max-Planck-Gesellschaft-Max-Planck-Gesellschaft, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Reims (CHU Reims)-Hôpital Maison Blanche-IFR 53, Université de Reims Champagne-Ardenne (URCA)-Université de Reims Champagne-Ardenne (URCA), Department of Human Genetics, Radboud University Medical Center [Nijmegen]-Nijmegen Centre for Molecular Life Sciences, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Génétique Médicale et Génomique Fonctionnelle (GMGF), 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)-Centre National de la Recherche Scientifique (CNRS), Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, American Memorial Hospital (Reims), COLLEAUX, Laurence
المصدر: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2013, 22 (16), pp.3306-3314. 〈10.1093/hmg/ddt187〉
Human Molecular Genetics, Oxford University Press (OUP), 2013, 22 (16), pp.3306-3314. ⟨10.1093/hmg/ddt187⟩
Human Molecular Genetics; Vol 22
Human Molecular Genetics, 22, 3306-14
Human Molecular Genetics, 22, 16, pp. 3306-14
Human Molecular Genetics, 2013, 22 (16), pp.3306-3314. ⟨10.1093/hmg/ddt187⟩
Europe PubMed Centralمصطلحات موضوعية: Male, Genetic Linkage, Bioinformatics, MESH: Child Development Disorders, Pervasive, 0302 clinical medicine, Genes, X-Linked, MESH: Child, Intellectual disability, MESH: Sequence Analysis, RNA, MESH: Animals, MESH: Genetic Variation, Child, Cells, Cultured, Genetics (clinical), X-linked recessive inheritance, Exome sequencing, ComputingMilieux_MISCELLANEOUS, Genetics, 0303 health sciences, Massive parallel sequencing, Brain, Articles, General Medicine, Autism spectrum disorder, MESH: Young Adult, Child, Preschool, Gene Knockdown Techniques, MESH: Cells, Cultured, Adult, Adolescent, Neurite, MESH: Rats, MESH: Genetic Linkage, Context (language use), [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, MESH: Intellectual Disability, Young Adult, 03 medical and health sciences, MESH: Brain, Intellectual Disability, [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology, Neurites, medicine, Animals, Humans, Molecular Biology, Loss function, 030304 developmental biology, MESH: Adolescent, MESH: Humans, [ SDV ] Life Sciences [q-bio], Sequence Analysis, RNA, MESH: Child, Preschool, Genetic Variation, MESH: Adult, medicine.disease, MESH: Neurites, MESH: Gene Knockdown Techniques, MESH: Male, Rats, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], MESH: Genes, X-Linked, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Child Development Disorders, Pervasive, [ SDV.NEU ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [ SDV.GEN ] Life Sciences [q-bio]/Genetics, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3421bc9de62dd890c231c08454b0e439Test
https://hal-amu.archives-ouvertes.fr/hal-01668671Test -
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المؤلفون: Nicole de Leeuw, Simone P A van den Heuvel, Alyson Bradbury, Arjan P.M. de Brouwer, Michael Parker, Leo P. ten Kate, Bert B.A. de Vries, Lisenka E.L.M. Vissers, Juliette Dupont, David A. Koolen, Willy M. Nillesen, James Steer
المساهمون: Human genetics, EMGO - Quality of care
المصدر: European Journal of Human Genetics, 20, 729-33
European Journal of Human Genetics, 20(7), 729-733. Nature Publishing Group
Koolen, D A, Dupont, J, de Leeuw, N, Vissers, L E L M, van den Heuvel, S P A, Bradbury, A, Steer, J, de Brouwer, A P M, ten Kate, L P, Nillesen, W M, de Vries, B B A & Parker, M J 2012, ' Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism ', European Journal of Human Genetics, vol. 20, no. 7, pp. 729-733 . https://doi.org/10.1038/ejhg.2012.1Test
European Journal of Human Genetics, 20, 7, pp. 729-33مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Monosomy, Adolescent, Genetic counseling, Buccal swab, Germline mosaicism, Biology, Article, Congenital Abnormalities, Risk Factors, Intellectual Disability, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Lymphocytes, Sibling, Child, Homologous Recombination, Interphase, Genetics (clinical), In Situ Hybridization, Fluorescence, Metaphase, Genetic testing, Cell Nucleus, medicine.diagnostic_test, Mosaicism, Infant, Syndrome, Microdeletion syndrome, medicine.disease, 17q21.31 microdeletion syndrome, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Pedigree, Haplotypes, Child, Preschool, Female, Chromosome Deletion, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::453d9bae3d8d594e4bb95023fa6a4d56Test
https://pubmed.ncbi.nlm.nih.gov/22293690Test