المؤلفون: Fátima Lopes, Fátima Torres, Gabriela Soares, Mafalda Barbosa, João Silva, Frederico Duque, Miguel Rocha, Joaquim Sá, Guiomar Oliveira, Maria João Sá, Teresa Temudo, Susana Sousa, Carla Marques, Sofia Lopes, Catarina Gomes, Gisela Barros, Arminda Jorge, Felisbela Rocha, Cecília Martins, Sandra Mesquita, Susana Loureiro, Elisa Maria Cardoso, Maria José Cálix, Andreia Dias, Cristina Martins, Céu R. Mota, Diana Antunes, Juliette Dupont, Sara Figueiredo, Sónia Figueiroa, Susana Gama-de-Sousa, Sara Cruz, Adriana Sampaio, Paul Eijk, Marjan M. Weiss, Bauke Ylstra, Paula Rendeiro, Purificação Tavares, Margarida Reis-Lima, Jorge Pinto-Basto, Ana Maria Fortuna, Patrícia Maciel

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)

مصطلحات موضوعية: CNVs, Neurodevelopment, Genotype-phenotype correlation, CUL4B overexpression, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-019-1135-0Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/bb7b4f8ceb644b0184506045e0ebf972Test

المؤلفون: Mohammed Almannai, Walaa Althunayyan, Mohammed Alamin, Paula Rendeiro, Suha Tashkandi

المصدر: Journal of Biochemical and Clinical Genetics, Vol 2, Iss 1, Pp 70-73 (2019)

مصطلحات موضوعية: tetrasomy, triplication, dysmorphic features, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.ejmanager.com/fulltextpdf.php?mno=25413Test; https://doaj.org/toc/1658-807XTest

الوصول الحر: https://doaj.org/article/e7a01cc9c9ac49c4978dffccd8f86214Test

المؤلفون: Fátima Lopes, Fátima Torres, Gabriela Soares, Clara D. van Karnebeek, Cecília Martins, Diana Antunes, João Silva, Lauren Muttucomaroe, Luís Filipe Botelho, Susana Sousa, Paula Rendeiro, Purificação Tavares, Hilde Van Esch, Evica Rajcan-Separovic, Patrícia Maciel

المصدر: Frontiers in Genetics, Vol 10 (2019)

مصطلحات موضوعية: 1q43-q44 CNVs, AKT3, microcephaly, macrocephaly, ZBTB18, SDCCAG8, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fgene.2019.00058/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/ef0d68c278b0451791bc867d815c5db9Test

المؤلفون: Paula Rendeiro

مصطلحات موضوعية: Outras ciências médicas, Other medical sciences

وصف الملف: application/pdf

الإتاحة: https://hdl.handle.net/10216/99987Test

المؤلفون: Teresa Torres, Susana Lopes, Cláudia Melo, Paula Rendeiro, Teresa Borges, Paula Fonseca

المصدر: Portuguese Journal of Pediatrics, Vol 45, Iss 4 (2014)

مصطلحات موضوعية: Síndrome de Turner, Baixa estatura, Amenorreia primária, Pediatrics, RJ1-570, Medicine (General), R5-920

العلاقة: https://pjp.spp.pt//article/view/3975Test; https://doaj.org/toc/2184-3333Test; https://doaj.org/article/db8737d5e7484b19a12646ba0c589536Test

الإتاحة: https://doi.org/10.25754/pjp.2014.3975Test
https://doaj.org/article/db8737d5e7484b19a12646ba0c589536Test

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: Peter Tolias, Luís Dias, Paula Rendeiro, Aida Palmeiro, Purificação Tavares

المصدر: Personalized medicine. 8(3)

مصطلحات موضوعية: Pharmacology, Computer science, General Medicine, Bioinformatics, Genetic analysis, Multiplexing, Patient management, Reliability engineering, Single test, Sequential analysis, Molecular Medicine, Genetic diagnosis, Reliability (statistics), Healthcare system

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd073f5ee3bb16fa425df59dd6223e35Test
https://pubmed.ncbi.nlm.nih.gov/29783521Test

المؤلفون: João Silva, Paula Rendeiro, Patrícia Maciel, Fátima Lopes, Sally Ann Lynch, Fátima Torres, Arminda Jorge, Ana Maria Fortuna, Purificação Tavares, Susana Sousa

المساهمون: Universidade do Minho

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

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, DNA Copy Number Variations, Duplication, Medicina Básica [Ciências Médicas], EXOC4, Biology, CALD1, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, Intellectual Disability, Intellectual disability, Gene duplication, 7q33 CNVs, Genetics, medicine, Humans, Copy-number variation, Functional studies, Child, Gene, Genetics (clinical), Science & Technology, Siblings, medicine.disease, Phenotype, Human genetics, 030104 developmental biology, Disinhibition, Ciências Médicas::Medicina Básica, Female, AGBL3, CNOT4, Chromosome Deletion, medicine.symptom, Chromosomes, Human, Pair 7

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0ca448da4b1625cdd337af1020cf795Test
https://hdl.handle.net/1822/57873Test

المؤلفون: Alexandra Lopes, Lígia Lameiras, Aida Palmeiro, Luís Dias, Paula Rendeiro, Joaquim Sá, Purificação Tavares

المصدر: Prenatal Diagnosis. 33:27-108

مصطلحات موضوعية: Genetics, Pathology, medicine.medical_specialty, Mutation (genetic algorithm), medicine, Obstetrics and Gynecology, Karyotype, Multiplex, Biology, Molecular diagnostics, Increased nuchal translucency, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::01c20d4d119fb3fd64fb367f67cb3863Test
https://doi.org/10.1002/pd.4148Test

المؤلفون: Brigid Dineley, Ron Rabinowitz, Maria João Ribeiro, Ida Vogel, Stephanie Winsor, Henna V. Advani, Stephen Morris, Helga Gottfredsdottir, Jo Ann Johnson, Caterina M. Bilardo, José Rocha, Sigrun Ingvarsdottir, Melissa Hill, Luisa Ronzoni, Wieke Rommers, Lyn S. Chitty, Marisa Horniachek, Mahesh Choolani, Sylvie Langlois, Naja Becher, Lidewij Henneman, Angela N. Barrett, Olav Bjørn Petersen, Hyun Lee, Rachèl V. van Schendel, Faustina Lalatta, Paula Rendeiro, Vigdis Stefansdottir, Eva Pajkrt, Ida Charlotte Bay Lund

المساهمون: APH - Amsterdam Public Health, ARD - Amsterdam Reproduction and Development, Obstetrics and Gynaecology, Other departments, Human genetics, EMGO - Quality of care, Reproductive Origins of Adult Health and Disease (ROAHD)

المصدر: European journal of human genetics, 24(7), 968-975. Nature Publishing Group
Hill, M, Johnson, J-A, Langlois, S, Lee, H, Winsor, S, Dineley, B, Horniachek, M, Lalatta, F, Ronzoni, L, Barrett, A N, Advani, H V, Choolani, M, Rabinowitz, R, Pajkrt, E, van Schendel, R V, Henneman, L, Rommers, W, Bilardo, C M, Rendeiro, P, Ribeiro, M J, Rocha, J, Lund, I C B, Petersen, O B, Becher, N, Vogel, I, Stefánsdottir, V, Ingvarsdottir, S, Gottfredsdottir, H, Morris, S & Chitty, L S 2016, ' Preferences for prenatal tests for Down syndrome : an international comparison of the views of pregnant women and health professionals ', European Journal of Human Genetics, vol. 24, pp. 968-975 . https://doi.org/10.1038/ejhg.2015.249Test
Hill, M, Johnson, J-A, Langlois, S, Lee, H, Winsor, S, Dineley, B, Horniachek, M, Lalatta, F, Ronzoni, L, Barrett, A N, Advani, H V, Choolani, M, Rabinowitz, R, Pajkrt, E, van Schendel, R V, Henneman, L, Rommers, W, Bilardo, C M, Rendeiro, P, Ribeiro, M J, Rocha, J, Lund, I C B, Petersen, O B, Becher, N, Vogel, I, Stefansdottir, V, Ingvarsdottir, S, Gottfredsdottir, H, Morris, S & Chitty, L S 2016, ' Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals ', European Journal of Human Genetics, vol. 24, no. 7, pp. 968-975 . https://doi.org/10.1038/ejhg.2015.249Test
European Journal of Human Genetics, 24(7), 968-975. Nature Publishing Group

مصطلحات موضوعية: Male, Canada, Health Knowledge, Attitudes, Practice, medicine.medical_specialty, Service delivery framework, NETHERLANDS, Health Personnel, education, Prenatal diagnosis, DECISION-MAKING, Article, Miscarriage, DISCRETE-CHOICE EXPERIMENT, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, Genetics, medicine, Humans, media_common.cataloged_instance, ATTITUDES, European Union, Genetic Testing, 030212 general & internal medicine, Israel, European union, Genetics (clinical), Genetic testing, media_common, SYNDROME SCREENING-TESTS, Singapore, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, ANEUPLOIDY, Stakeholder, NONINVASIVE DIAGNOSIS, medicine.disease, MATERNAL BLOOD, Preference, humanities, Test (assessment), CELL-FREE DNA, Family medicine, Female, Pregnant Women, Down Syndrome, Psychology, NIPT

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f1a66c46db22d7e4761466587fe177dTest
https://pure.amc.nl/en/publications/preferences-for-prenatal-tests-for-down-syndrome-an-international-comparison-of-the-views-of-pregnant-women-and-health-professionalsTest(11cd29ae-a032-4c62-bcf1-95a20f16b612).html