المؤلفون: Catarina Silvestre, Juliette Dupont, Rosário Silveira Santos, Maria de Lurdes Sampaio, Brígida Robalo, Carla Pereira

المصدر: Case Reports in Pediatrics
Case Reports in Pediatrics, Vol 2019 (2019)

مصطلحات موضوعية: Delayed puberty, 0303 health sciences, Pediatrics, medicine.medical_specialty, business.industry, lcsh:RJ1-570, Chromosome, lcsh:Pediatrics, Case Report, General Medicine, medicine.disease, Short stature, Isodicentric y, 03 medical and health sciences, 0302 clinical medicine, Sex Orientation, 030220 oncology & carcinogenesis, Turner syndrome, medicine, Etiology, Outpatient clinic, medicine.symptom, business, 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63a40d618e737a3c00b788bf5aba6d7fTest
https://doi.org/10.1155/2019/8563095Test

المؤلفون: José Pedro Vieira, Lisbeth Silva, Helena de Souza Santos, Esmeralda Martins, Esmeralda Rodrigues, Sílvia Sequeira, Juliette Dupont, Célia Nogueira, Laura Vilarinho, Luís Vieira, Marina Magalhães, Patrícia Janeiro, Anabela Bandeira, Silvia Vilarinho, Ana Maria Minarelli Gaspar, Teresa Campos, Cristina Pereira, Elisa Leão Teles

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Mitochondrial DNA, Nuclear gene, Mitochondrial Diseases, Adolescent, Respiratory Chain, Respiratory chain, Nuclear Genes, Next Generation Sequencing, Disease, Computational biology, Biology, DNA sequencing, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Humans, Medical diagnosis, Child, Molecular Biology, Gene Panel, Genetic heterogeneity, mtDNA, High-Throughput Nucleotide Sequencing, Infant, Cell Biology, Sequence Analysis, DNA, Middle Aged, Doenças Genéticas, 030104 developmental biology, Molecular Diagnostic Techniques, Child, Preschool, Cohort, Genome, Mitochondrial, Molecular Medicine, Female, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d74c0900d493da4e6565b750ff47447Test
https://hdl.handle.net/10400.18/6560Test

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

المؤلفون: B. van Lier, Luis A. Pérez-Jurado, Alexander Hoischen, Periklis Makrythanasis, I. van der Burgt, Ann Nordgren, Alexandre Reymond, Britt-Marie Anderlid, M. del Campo, Ivon Cuscó, L. Toledo, Jacqueline Schoumans, C. M. Kets, B W M van Bon, Michael A. Simpson, M. Ruiterkamp-Versteeg, Juliette Dupont, Margherita Silengo, E. Frysira, L. Izatt, Lucia Micale, Willie Reardon, Stavroula Psoni, Patricia Dias, Helger G. Yntema, Nicole Revencu, Joris A. Veltman, Bartolomeo Augello, Juliane Hoyer, Isabel Cordeiro, Tony Roscioli, Giuseppe Merla, Ernie M.H.F. Bongers, M. Bhat, Christian Gilissen, Stylianos E. Antonarakis, H. G. Santos, E. Galan, Elisa Biamino, Peer Arts, Blanca Gener, Shehla Mohammed, A. M. Cueto-Gonzalez, Marloes Steehouwer, Richard C. Trembath, Carlo Marcelis, B. B. A. de Vries, Christiane Zweier, Han G. Brunner, B. Rodriguez-Santiago, Raquel Flores, Charu Deshpande, Janneke H M Schuurs-Hoeijmakers, S. A. de Munnik, Ana Medeira, Teresa Vendrell, David A. Koolen, S. M. Granneman

المصدر: Clinical Genetics. 84:539-545

مصطلحات موضوعية: medicine.medical_specialty, media_common.quotation_subject, Nonsense, Bioinformatics, medicine.disease_cause, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Genetics, medicine, Coding region, Missense mutation, Gene, Genetics (clinical), 030304 developmental biology, media_common, 0303 health sciences, Mutation, Sotos syndrome, business.industry, medicine.disease, Phenotype, business, Kabuki syndrome, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::39eaa9d360ba5272c5f971c1f5c02e9aTest
https://doi.org/10.1111/cge.12081Test

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 Central

مصطلحات 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