المؤلفون: Ana Soares, Natália Oliva-Teles, Ana Maria Fortuna, Manuela Mota-Freitas, Gabriela Soares

المصدر: Acta Médica Portuguesa, Vol 32, Iss 7-8, Pp 529-535 (2019)
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Acta Médica Portuguesa; v. 32, n. 7-8 (2019): Julho-Agosto; 529-535
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)

مصطلحات موضوعية: Male, Parents, Proband, Deficiência Intelectual/genética, Rearranjo Génico/genética, Telómero/genética, Plagiocephaly, lcsh:Medicine, Gene duplication, Intellectual disability, Photography, OMIM : Online Mendelian Inheritance in Man, Medicine, Child, Gene Rearrangement, Genetics, Comparative Genomic Hybridization, lcsh:R5-920, education.field_of_study, Hypertelorism, General Medicine, Telomere, Subtelomere, Child, Preschool, Female, Chromosome Deletion, Abnormality, lcsh:Medicine (General), Adult, Subtelomeric Rearrangements Gene Rearrangement/genetics, Population, Young Adult, Intellectual Disability, Humans, Family, education, Intellectual Disability/genetics, Telomere/genetics, Chromosome Aberrations, business.industry, lcsh:R, Infant, Newborn, Facies, Infant, Gene rearrangement, medicine.disease, Facial Asymmetry, Face, Karyotyping, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c9245bc13c203f380be50c35894080eTest
https://doi.org/10.20344/amp.11466Test

المؤلفون: Kevin Norris, Mark J. Ponsford, Tom Vulliamy, Inderjeet Dokal, Amanda J. Walne, Jenna Alnajar, Alicia Ellison, Julia W. Grimstead, Kez Cleal, Duncan M. Baird

المصدر: Human Genetics

مصطلحات موضوعية: Adult, Male, Oncology, Heterozygote, medicine.medical_specialty, Adolescent, Biology, Severity of Illness Index, Asymptomatic, Dyskeratosis Congenita, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Internal medicine, Genetics, medicine, Humans, Child, Genetics (clinical), Aged, Original Investigation, 030304 developmental biology, 0303 health sciences, Fetal Growth Retardation, Telomere biology, Genetic Carrier Screening, Age Factors, Infant, Telomere Homeostasis, Retrospective cohort study, Bone Marrow Failure Disorders, Middle Aged, Telomere, Survival Analysis, Human genetics, Case-Control Studies, Child, Preschool, 030220 oncology & carcinogenesis, Clinical diagnosis, Asymptomatic Diseases, Mutation (genetic algorithm), Cohort, Microcephaly, Female, medicine.symptom

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8682a77e8c84d1ff11a112aae6e388e7Test
https://orca.cardiff.ac.uk/id/eprint/137651/7/Norris2021_Article_High-throughputSTELAProvidesAR.pdfTest

المؤلفون: Kalene van Engelen, David Malkin, M. Stephen Meyn, Jonathan D. Wasserman, Anita Villani, Harriet Druker, Bailey Gallinger, Laura Aronoff, Raymond H. Kim

المصدر: Journal of Medical Genetics. 55:395-402

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Oncology, Heterozygote, medicine.medical_specialty, von Hippel-Lindau Disease, Adolescent, Somatic cell, Young Adult, 03 medical and health sciences, White blood cell, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Child, In Situ Hybridization, Fluorescence, Telomere Shortening, Genetics (clinical), medicine.diagnostic_test, Anticipation, Genetic, business.industry, Proportional hazards model, Infant, Telomere, Flow Cytometry, Pedigree, Killer Cells, Natural, 030104 developmental biology, medicine.anatomical_structure, Von Hippel-Lindau Tumor Suppressor Protein, Child, Preschool, Anticipation (genetics), Cohort, Female, Age of onset, business, Granulocytes, Fluorescence in situ hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::194e6e60ac83cf66a80dad812fae19f3Test
https://doi.org/10.1136/jmedgenet-2017-104882Test

المؤلفون: Abraham Aviv, Carlos Labat, Anne Chuang, Kristina Martimucci, Sanjeev Sabharwal, Masayuki Kimura, Donald Chuang, Debra S. Heller, George Guirguis, Krunal Patel, Athanase Benetos, Natalie Roche, Jeremy D. Kark, Simon Verhulst

المساهمون: Rutgers New Jersey Medical School (NJMS), Rutgers University System (Rutgers), Groningen Institute for Evolutionary Life Sciences [Groningen] (GELIFES), University of Groningen [Groningen], Hadassah School of Public Health and Community Medicine, The Hebrew University of Jerusalem (HUJ), Défaillance Cardiovasculaire Aiguë et Chronique (DCAC), Université de Lorraine (UL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Center of Human Development and Aging, New Jersey Medical School, Rutgers University System (Rutgers)-Rutgers University System (Rutgers), Service de Gériatrie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), U.S. National Institutes of Health (NIH) National Heart, Lung, and Blood Institute (NHLBI) Grant R01HL116446 (Leukocyte Telomere Length and Cardiovascular Disease in the Jackson Heart Study), NHLBI Grant R01HL13840 (Telomeres and Female Fecundity), NIH Eunice Kennedy Shriver National Institute of Child Health and Human Development Grant R01HD071180 (Determinants of Leukocyte Telomere Length at Birth), DE CARVALHO, Philippe, Verhulst lab

المصدر: FASEB Journal
FASEB Journal, Federation of American Society of Experimental Biology, 2017, 32 (1), pp.529-534. ⟨10.1096/fj.201700630R⟩
The FASEB Journal, 32(1), 529-534. FEDERATION AMER SOC EXP BIOL

مصطلحات موضوعية: Male, 0301 basic medicine, Aging, Somatic cell, [SDV]Life Sciences [q-bio], Biochemistry, DISEASE, 0302 clinical medicine, Child, 2. Zero hunger, RISK, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, ASSOCIATION, CANCER, Early life, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, [SDV] Life Sciences [q-bio], fetus, medicine.anatomical_structure, Child, Preschool, 030220 oncology & carcinogenesis, Aborted Fetus, Female, Biotechnology, medicine.medical_specialty, TISSUES, Adolescent, leukocytes, Biology, Models, Biological, Young Adult, 03 medical and health sciences, Telomere Homeostasis, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, children, Internal medicine, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Genetics, medicine, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Muscle, Skeletal, Molecular Biology, METAANALYSIS, Fetus, Research, Infant, Skeletal muscle, Telomere, 030104 developmental biology, Endocrinology, Body mass index, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b527fedef1a8ca3e6c2a9ffef5086b74Test
https://doi.org/10.1096/fj.201700630RTest

المؤلفون: Maike Hagedorn, Lea Henrich, Gudrun Göhring, Brigitte Schlegelberger, Kathrin Thomay, Rainer Nustede, Juliane Ebersold, Yvonne Lisa Behrens

المصدر: Genes, Chromosomes and Cancer. 56:700-708

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Cancer Research, Adolescent, Biology, Restriction fragment, Blood cell, 03 medical and health sciences, Linear regression, Genetics, medicine, Humans, Genetic Testing, Child, In Situ Hybridization, Fluorescence, Telomere Shortening, Aged, Whole blood, Southern blot, Aged, 80 and over, medicine.diagnostic_test, Infant, Newborn, Infant, Middle Aged, Hematologic Diseases, Molecular biology, Telomere, Blotting, Southern, 030104 developmental biology, medicine.anatomical_structure, Real-time polymerase chain reaction, Child, Preschool, biology.protein, Female, Fluorescence in situ hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd45c7178dac10aede81847d64eb8f59Test
https://doi.org/10.1002/gcc.22475Test

المؤلفون: Julián Sevilla, Mónica Martínez-Gallo, Laura Iarriccio, Elena Vallespín, Maria-Luz Uria, Lurdes Planas-Cerezales, Luis Ignacio Gonzalez-Granado, Virginia Leiro-Fernandez, Rosario Perona, Claudia Valenzuela, Albert Català, Sara Martín, Isabel Badell-Serra, Maria Molina-Molina, Carmen Rodríguez-Vigil, Pablo Lapunzina, Belén López-Muñiz, P. Martínez, Elena G Arias-Salgado, Guiomar Perez de Nanclares, Mariana Bastos-Oreiro, Leandro Sastre, Jaime Carrillo, Ana Maria Galera-Miñarro, Anna Ruiz-Llobet, Cristina Diaz-Heredia, Eva M. Galvez, Andrea Martín-Nalda, Laura Pintado-Berninches

المساهمون: Instituto de Salud Carlos III, CSIC - Unidad de Recursos de Información Científica para la Investigación (URICI), Federación Española de Enfermedades Raras, Sastre, Leandro, Sastre, Leandro [0000-0003-3613-5938], Institut Català de la Salut, [Arias-Salgado EG, Pintado-Berninches L] Instituto de Investigaciones Biomedicas CSIC/UAM, IDIPaz, Madrid, Spain. Advanced Medical Projects, Madrid, Spain. [Galvez E] Hematología y Hemoterapia, Hospital Niño Jesús, Madrid, Spain. [Planas-Cerezales L] Unitat ILD, Departament de Pneumologia, Hospital de Universitari de Bellvtige, Barcelona, Spain. Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Barcelona, Spain. Universitat de Barcelona, Barcelona, Spain. [Vallespin E, Martinez P] Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Madrid, Spain. [Martín-Nalda A, Martínez-Gallo M, Uria ML, Diaz-Heredia C] Unitat de Patologia Infecciosa i Immunodeficiències de Pediatria, Hospital Universitari Vall d'Hebron, Barcelona, Spain. Vall d’Hebron Institut de Recerca, Barcelona, Spain. Departament de Biologia Cel•lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Orphanet Journal of Rare Diseases
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
ORPHANET JOURNAL OF RARE DISEASES
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-12 (2019)
Dipòsit Digital de la UB
Universidad de Barcelona
Digital.CSIC. Repositorio Institucional del CSIC
Scientia

مصطلحات موضوعية: Male, 0301 basic medicine, DNA repair, lcsh:Medicine, Anèmia, Cells::Cellular Structures::Intracellular Space::Cell Nucleus::Cell Nucleus Structures::Intranuclear Space::Chromosomes::Chromosome Structures::Telomere [ANATOMY], 030105 genetics & heredity, Exon, 0302 clinical medicine, Respiratory Tract Diseases::Lung Diseases::Lung Diseases, Interstitial::Idiopathic Interstitial Pneumonias::Idiopathic Pulmonary Fibrosis [DISEASES], Pharmacology (medical), enfermedades respiratorias::enfermedades pulmonares::enfermedades pulmonares intersticiales::neumonías intersticiales idiopáticas::fibrosis pulmonar idiopática [ENFERMEDADES], Child, Telomerase, Telomere Shortening, Genetics (clinical), Pulmonary fibrosis, Genetics, Sanger sequencing, Telòmer, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Dyskeratosis congenita, Telomeropathies, Anemia, Aplastic, Anèmia aplàstica - Aspectes genètics, Fibrosi pulmonar, Anemia, Exons, General Medicine, Telomere, Pedigree, Other subheadings::Other subheadings::/pathology [Other subheadings], Child, Preschool, symbols, Female, Otros calificadores::Otros calificadores::/patología [Otros calificadores], Aplastic anemia, Adult, Hemic and Lymphatic Diseases::Hematologic Diseases::Anemia::Anemia, Aplastic [DISEASES], Adolescent, Biology, Young Adult, 03 medical and health sciences, symbols.namesake, Other subheadings::Other subheadings::/genetics [Other subheadings], medicine, Humans, Fibrosi pulmonar - Aspectes genètics, enfermedades hematológicas y linfáticas::enfermedades hematológicas::anemia::anemia aplásica [ENFERMEDADES], Gene, Southern blot, Research, lcsh:R, Infant, medicine.disease, Human genetics, RNA, células::estructuras celulares::espacio intracelular::núcleo celular::estructuras del núcleo celular::espacio intranuclear::cromosomas::estructuras cromosómicas::telómero [ANATOMÍA], 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a22923a306f5c02902f216984a1f8b98Test
https://ddd.uab.cat/record/223237Test

المؤلفون: Ylva Paulsson-Karlsson, Pär Larsson, Klas Raaschou-Jensen, Olli Lohi, Panagiotis Baliakas, Astrid Olsnes Kittang, Anna Norberg, Magnus Hultdin, Lars Kjeldsen, Jukka S. Moilanen, Sofie Degerman, Göran Roos, Anna Rosén, Aymen Bushra Ahmed

المصدر: Norberg, A, Rosén, A, Raaschou-Jensen, K, Kjeldsen, L, Moilanen, J S, Paulsson-Karlsson, Y, Baliakas, P, Lohi, O, Ahmed, A, Kittang, A O, Larsson, P, Roos, G, Degerman, S & Hultdin, M 2018, ' Novel variants in Nordic patients referred for genetic testing of telomere-related disorders ', European Journal of Human Genetics, vol. 26, no. 6, pp. 858–867 . https://doi.org/10.1038/s41431-018-0112-8Test

مصطلحات موضوعية: 0301 basic medicine, Male, Cell Cycle Proteins, TINF2, medicine.disease_cause, 0302 clinical medicine, Child, Telomerase, Telomere Shortening, Genetics (clinical), Sanger sequencing, Genetics, Mutation, medicine.diagnostic_test, Nuclear Proteins, Telomere, Middle Aged, Telomere Shortening/genetics, 030220 oncology & carcinogenesis, Child, Preschool, symbols, Medical genetics, Female, Adult, Dyskeratosis Congenita/genetics, medicine.medical_specialty, Adolescent, Telomere-Binding Proteins, RNA/genetics, Biology, Dyskeratosis Congenita, Article, 03 medical and health sciences, symbols.namesake, Young Adult, medicine, Humans, Genetic Testing, Genetic testing, Aged, Telomere/genetics, Cell Cycle Proteins/genetics, Genetic heterogeneity, Infant, Human genetics, Nuclear Proteins/genetics, Telomerase/genetics, 030104 developmental biology, RNA, Telomere-Binding Proteins/genetics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e35f50b5f431ca49b843d2964a52333Test
https://portal.findresearcher.sdu.dk/da/publications/c525ea84-d5c3-42ac-a557-2fbbe0131e59Test

المؤلفون: Belinda L. Needham, Cleopatra M. Abdou, Colter Mitchell, Margaret T. Hicken, Ishtar Govia

المصدر: Biodemography and Social Biology. 63:221-235

مصطلحات موضوعية: Adult, Male, Michigan, Pediatrics, medicine.medical_specialty, Offspring, Ethnic group, Black People, Mothers, White People, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Statistical significance, Infant Mortality, Genetics, Humans, Medicine, 030212 general & internal medicine, Socioeconomic status, Ecology, Evolution, Behavior and Systematics, Biological Specimen Banks, Demography, Hematologic Tests, Marital Status, business.industry, Infant, Newborn, Infant, Social environment, Hispanic or Latino, Telomere, Educational attainment, Infant mortality, Socioeconomic Factors, Birth Certificates, 030220 oncology & carcinogenesis, Anthropology, Marital status, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::736749a8a52c3dd7e034330469eb7e83Test
https://doi.org/10.1080/19485565.2017.1300520Test

المؤلفون: Marcella Rietschel, Nicholas G. Martin, Veryan Codd, Gonneke Willemsen, Ian B. Hickie, Jana Strohmaier, Richard Saffery, Nilesh J. Samani, Jenny van Dongen, Anjali K. Henders, Dale R. Nyholt, Narelle K. Hansell, Margaret J. Wright, Grant W. Montgomery, Fabian Streit, Nathan A. Gillespie, Liz Rietschel, Jeffrey M. Craig, Boris Novakovic, Gu Zhu, Dorret I. Boomsma

المساهمون: Biological Psychology, Neuroscience Campus Amsterdam - Neurobiology of Mental Health, EMGO+ - Mental Health

المصدر: Strohmaier, J, van Dongen, J, Willemsen, G, Nyholt, DR, Zhu, G, Codd, V, Novakovic, B, Hansell, N K, Wright, M J, Rietschel, L, Streit, F, Henders, A K, Montgomery, G W, Samani, N J, Gillespie, N A, Hickie, I B, Craig, J M, Saffery, R, Boomsma, D I, Rietschel, M & Martin, N G 2015, ' Low Birth Weight in MZ Twins Discordant for Birth Weight is Associated with Shorter Telomere Length and lower IQ, but not Anxiety/Depression in Later Life ', Twin Research and Human Genetics, vol. 18, no. 2, pp. 198-209 . https://doi.org/10.1017/thg.2015.3Test
ResearcherID
Twin Research and Human Genetics, 18(2), 198-209. Australian Academic Press

مصطلحات موضوعية: Male, Netherlands Twin Register (NTR), medicine.medical_specialty, Adolescent, Birth weight, Intelligence, Anxiety depression, Population, Anxiety, Telomere Homeostasis, Internal medicine, Twins, Dizygotic, medicine, Humans, Longitudinal Studies, Child, education, Genetics (clinical), Genetics, education.field_of_study, Intelligence quotient, Depression, Infant, Newborn, Infant, Obstetrics and Gynecology, Twins, Monozygotic, Infant, Low Birth Weight, Telomere, Low birth weight, Endocrinology, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, Psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a510accf609d97a53af1a05bd230b37dTest
https://doi.org/10.1017/thg.2015.3Test

المؤلفون: Nathalie Alos, T. Leblanc, Sonia Nizard, V-A Pelletier, Y. Capri, Fátima Lopes, Virginie Saillour, Christina Nassif, Emmanuelle Lemyre, J-F Soucy, Guylaine D’Amours, Julie Gauthier, Jacques L. Michaud, Yves D. Pastore, R. Wynn

المساهمون: Universidade do Minho

المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

مصطلحات موضوعية: 0301 basic medicine, Male, BMFS3, Medicina Básica [Ciências Médicas], Hemoglobinuria, Paroxysmal, Bioinformatics, Lipomatosis, Bone Marrow Diseases, Genetics (clinical), telomere, Anemia, Aplastic, Penetrance, Shwachman-Diamond Syndrome, 3. Good health, genotype-phenotype, Leukemia, Phenotype, founder effect, ribosome, natural history, Child, Preschool, Failure to thrive, Ciências Médicas::Medicina Básica, Female, medicine.symptom, management, Joint hypermobility, bone marrow failure syndrome, Dyskeratosis Congenita, 03 medical and health sciences, Genetics, medicine, Humans, Abnormalities, Multiple, Expressivity (genetics), Aplastic anemia, Science & Technology, business.industry, Bone marrow failure, Infant, Bone Marrow Failure Disorders, HSP40 Heat-Shock Proteins, medicine.disease, genomic instability, 030104 developmental biology, Mutation, Exocrine Pancreatic Insufficiency, business, Ribosomes, Dyskeratosis congenita

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8eb6a75fd5cf5d7513401cda966b3f67Test