المؤلفون: Jorge Sequeiros, Milena Paneque, Álvaro Mendes, João Silva, Carolina Lemos, Susana Lêdo, Joana Félix

المساهمون: Instituto de Investigação e Inovação em Saúde

المصدر: Acta Médica Portuguesa, Vol 32, Iss 4, Pp 295-304 (2019)
Acta Médica Portuguesa; v. 32, n. 4 (2019): Abril; 295-304
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

مصطلحات موضوعية: 0301 basic medicine, Genetic testing, Time Factors, Machado-Joseph Disease / diagnosis, lcsh:Medicine, Disease, Patient Dropouts / statistics & numerical data, 030105 genetics & heredity, 0302 clinical medicine, Health care, Medicine, Age of Onset, Neurologic Examination, Aged, 80 and over, Neurologic Examination / psychology, education.field_of_study, lcsh:R5-920, Genetic Carrier Screening, Neurodegenerative diseases, Neurodegenerative Diseases, Machado-Joseph Disease, General Medicine, Machado-Joseph Disease / genetics, Middle Aged, Heredodegenerative Disorders, Nervous System / genetics, Test (assessment), language, Heredodegenerative Disorders, Nervous System, lcsh:Medicine (General), Adult, medicine.medical_specialty, Patient Dropouts, Adolescent, Genetic counseling, Neurologic Examination / statistics & numerical data, Population, Amyloid Neuropathies, Familial / genetics, Genetic Counseling, Genetic Testing, Portugal, Quality of Health Care, Disclosure, Young Adult, 03 medical and health sciences, Humans, Heredodegenerative Disorders, Nervous System / psychology, education, Aged, Heredodegenerative Disorders, Nervous System / diagnosis, Retrospective Studies, Protocol (science), Aconselhamento Genético, Doenças Neurodegenerativas, Qualidade de Cuidados de Saúde, Testes Genéticos, Amyloid Neuropathies, Familial, business.industry, lcsh:R, Retrospective cohort study, language.human_language, Amyloid Neuropathies, Familial / diagnosis, Socioeconomic Factors, Family medicine, Asymptomatic Diseases, Genetic Counseling / statistics & numerical data, Quality of health care, Genetic Testing / statistics & numerical data, Portuguese, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e80cd17df3b0410ace0ddef53cf2220
https://actamedicaportuguesa.com/revista/index.php/amp/article/view/10526

المؤلفون: Luc De Catte, Valerie Race, Jeroen Breckpot, Anniek Corveleyn, Michael Aertsen, Thomy de Ravel, Kris Van Den Bogaert, Marijke Bauters, Liesbeth Lewi, Marcella Baldewijns, Eric Legius, Evelien Van Hoof, Ellen Denayer, Koenraad Devriendt, Berardo Rinaldi

المساهمون: Clinical sciences, Medical Genetics, Gyneacology-Urology

مصطلحات موضوعية: 0301 basic medicine, Male, Prenatal Diagnosis/statistics & numerical data, Genetic Testing/statistics & numerical data, High-Throughput Nucleotide Sequencing/statistics & numerical data, 030105 genetics & heredity, Bioinformatics, Genome, DNA sequencing, Correlation, 03 medical and health sciences, Fetus, Prenatal Diagnosis, Sequence Analysis, DNA/statistics & numerical data, Genetics, Medicine, Humans, Genetic Testing, Allele, Genetics (clinical), business.industry, Genetic Diseases, Inborn, High-Throughput Nucleotide Sequencing, Fetus/pathology, General Medicine, Sequence Analysis, DNA, Fetal Presentation, Phenotype, 030104 developmental biology, Genetic Diseases, Inborn/diagnosis, Female, Presentation (obstetrics), mutation, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6cef7284f65a9368ee0c6c60fbcfabe
https://biblio.vub.ac.be/vubir/(3627d61a-493e-4c81-9b18-7ddb611e194b).html

المؤلفون: Anna Byrjalsen, René Mathiasen, Peder Skov Wehner, Nanna Moeller Barnkob, Kjeld Schmiegelow, David Scheie, Henrik Hasle, Lisa Lyngsie Hjalgrim, Ruta Tuckuviene, Mana M. Mehrjouy, Charlotte Kvist Lautrup, Karin Wadt, Adrian O. Laspiur, Thomas Hansen, Tina Elisabeth Olsen, Maria Rossing, Peter Wad Sackett, Pernille Axel Gregersen, Anne-Marie Gerdes, Ulrik Stoltze, Niels Tommerup, Ramneek Gupta, Rasmus L. Marvig

المصدر: Byrjalsen, A, Hansen, T V O, Stoltze, U K, Mehrjouy, M M, Barnkob, N M, Hjalgrim, L L, Mathiasen, R, Lautrup, C K, Gregersen, P A, Hasle, H, Wehner, P S, Tuckuviene, R, Sackett, P W, Laspiur, A O, Rossing, M, Marvig, R L, Tommerup, N, Olsen, T E, Scheie, D, Gupta, R, Gerdes, A M, Schmiegelow, K & Wadt, K 2020, ' Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high frequency of cancer prone syndromes ', PLOS Genetics, vol. 16, no. 12, e1009231 . https://doi.org/10.1371/JOURNAL.PGEN.1009231
Byrjalsen, A, Hansen, T, Stoltze, U, Mehrjouy, M, Barnkob, N, Hjalgrim, L, Mathiasen, R, Lautrup, C K, Gregersen, P, Hasle, H, Wehner, P, Tuckuviene, R, Sackett, P, Laspiu, A, Rossing, M, Marvig, R, Tommerup, N, Olsen, T, Scheie, D, Gupta, R, Gerdes, A-M, Schmiegelow, K & Wadt, K 2020, ' Nationwide Germline Whole Genome Sequencing of 198 Consecutive Pediatric Cancer Patients Reveals a High Incidence of Cancer Prone Syndromes ', Pediatric Blood & Cancer, vol. 67, no. Suppl. 4, 0719 / #1167, pp. S323 .
PLoS Genetics
Byrjalsen, A, Hansen, T V O, Stoltze, U K, Mehrjouy, M M, Barnkob, N M, Hjalgrim, L L, Mathiasen, R, Lautrup, C K, Gregersen, P A, Hasle, H, Wehner, P S, Tuckuviene, R, Sackett, P W, Laspiur, A O, Rossing, M, Marvig, R L, Tommerup, N, Olsen, T E, Scheie, D, Gupta, R, Gerdes, A M, Schmiegelow, K & Wadt, K 2020, ' Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes ', PLOS Genetics, vol. 16, no. 12, e1009231 . https://doi.org/10.1371/JOURNAL.PGEN.1009231
Byrjalsen, A, Hansen, T V O, Stoltze, U K, Mehrjouy, M M, Barnkob, N M, Hjalgrim, L L, Mathiasen, R, Lautrup, C K, Gregersen, P A, Hasle, H, Wehner, P S, Tuckuviene, R, Sackett, P W, Laspiur, A O, Rossing, M, Marvig, R L, Tommerup, N, Olsen, T E, Scheie, D, Gupta, R, Gerdes, A-M, Schmiegelow, K & Wadt, K 2020, ' Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high frequency of cancer prone syndromes ', PLOS Genetics, vol. 16, no. 12, e1009231 . https://doi.org/10.1371/journal.pgen.1009231
PLoS Genetics, Vol 16, Iss 12, p e1009231 (2020)
Byrjalsen, A, Hansen, T V O, Stoltze, U K, Mehrjouy, M M, Barnkob, N M, Hjalgrim, L L, Mathiasen, R, Lautrup, C K, Gregersen, P A, Hasle, H, Wehner, P S, Tuckuviene, R, Sackett, P W, Laspiur, A O, Rossing, M, Marvig, R L, Tommerup, N, Olsen, T E, Scheie, D, Gupta, R, Gerdes, A-M, Schmiegelow, K & Wadt, K 2020, ' Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes ', PLOS Genetics, vol. 16, no. 12, e1009231 . https://doi.org/10.1371/journal.pgen.1009231
Byrjalsen, A, Hansen, T, Stoltze, U, Mehrjouy, M, Barnkob, N, Hjalgrim, L, Mathiasen, R, Lautrup, C, Gregersen, P, Hasle, H, Wehner, P, Tuckuviene, R, Sackett, P, Laspiur, A, Rossing, M, Marvig, R, Tommerup, N, Olsen, T, Scheie, D, Gupta, R, Gerdes, A-M, Schmiegelow, K & Wadt, K 2020, ' Nationwide Germline Whole Genome Sequencing of 198 Consecutive Pediatric Cancer Patients Reveals a High Incidence of Cancer Prone Syndromes ', Pediatric Blood & Cancer, vol. 67, no. Suppl .4, 0719, pp. S323 . < https://onlinelibrary.wiley.com/toc/15455017/2020/67/S4 >

مصطلحات موضوعية: Male, Cancer Research, Ophthalmologic Tumors, QH426-470, Lung and Intrathoracic Tumors, Germline, Hematologic Cancers and Related Disorders, Small Cell Lung Cancer, 0302 clinical medicine, Mutation Rate, Breast Tumors, Gastrointestinal Cancers, Medicine and Health Sciences, Child, Genetics (clinical), 0303 health sciences, education.field_of_study, Whole Genome Sequencing/statistics & numerical data, Incidence, Incidence (epidemiology), Ocular Tumors, Hematology, Oncology, Nephrology, Child, Preschool, Renal Cancer, 030220 oncology & carcinogenesis, Female, Research Article, medicine.medical_specialty, Genetic Testing/statistics & numerical data, Adolescent, Population, Gastroenterology and Hepatology, Biology, 03 medical and health sciences, Germline mutation, SDG 3 - Good Health and Well-being, Neoplastic Syndromes, Hereditary, Diagnostic Medicine, Internal medicine, Breast Cancer, Cancer Detection and Diagnosis, Genetics, medicine, Humans, Genetic Testing, CNS TUMORS, education, Molecular Biology, Germ-Line Mutation, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Whole genome sequencing, Whole Genome Sequencing, Infant, Cancers and Neoplasms, Cancer, medicine.disease, Pediatric cancer, Neoplastic Syndromes, Hereditary/epidemiology, Ophthalmology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6228024a6be5c771cf845435951de106
https://doi.org/10.1371/journal.pgen.1009231

المؤلفون: Kari Klungsøyr, Marie-Claude Addor, Judith Rankin, Elizabeth S Draper, Diana Wellesley, Elisa Calzolari, Paula Braz, Babak Khoshnood, Ljubica Boban, Anke Rissmann, Helen Dolk, Ester Garne, Ingeborg Barišić, Annette Queisser-Luft, Martin Haeusler, Jorieke E. H. Bergman, Anna Pierini, Christine Verellen-Dumoulin, Maria Loane

المساهمون: Reproductive Origins of Adult Health and Disease (ROAHD)

المصدر: Barisic, I, Boban, L, Loane, M, Garne, E, Wellesley, D, Calzolari, E, Dolk, H, Addor, M-C, Bergman, J E, Braz, P, Draper, E S, Haeusler, M, Khoshnood, B, Klungsoyr, K, Pierini, A, Queisser-Luft, A, Rankin, J, Rissmann, A & Verellen-Dumoulin, C 2015, ' Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe ', European Journal of Human Genetics, vol. 23, pp. 746–752 . https://doi.org/10.1038/ejhg.2014.174
European Journal of Human Genetics, 23(6), 746-752. Nature Publishing Group

مصطلحات موضوعية: Male, Prenatal Diagnosis/statistics & numerical data, ANOMALIES, Epidemiology, Prevalence, SHH, European Surveillance of Congenital Anomalies, EUROCAT, Pregnancy, Prenatal Diagnosis, CRITERIA, Genetics (clinical), Encephalocele, Cystic kidney, education.field_of_study, Polycystic Kidney Diseases, Polydactyly, Obstetrics, Syndrome, Europe, Female, NEURAL-TUBE DEFECTS, Encephalocele/diagnosis, Retinitis Pigmentosa, Ciliary Motility Disorders, medicine.medical_specialty, Genetic Testing/statistics & numerical data, Population, Prenatal diagnosis, PHENOTYPES, Meckel–Gruber, Article, Polycystic Kidney Diseases/diagnosis, Genetics, medicine, Meckel-Gruber syndrome, Congenital anomalies, Humans, Genetic Testing, education, Meckel-Gruber Syndrome, SPECTRUM, business.industry, MUTATIONS, Ciliary Motility Disorders/diagnosis, medicine.disease, Estados de Saúde e de Doença, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3376ed58a2d436aff0393b68e9f4a593
https://doi.org/10.1038/ejhg.2014.174

المؤلفون: Boyd, Patricia, De Vigan, Catherine, Khoshnood, Babak, Loane, Maria, Garne, Ester, Dolk, Helen, Gillerot, Yves, Barišić, Ingeborg, Haeusler, Martin, Christiansen, Marianne, Ritvanen, Annukka, Queisser-Luft, Annette, Bob McDonnell, Bob, Calzolari, Eliza, Gatt, Miriam, de Walle, Hermien, Irgens, Lorentz, Latos-Bielenska, Anna, Feijoo, Maria, Portillo, Isabel, Ollars, Birgitta, Addor, Marie-Claude, Tucker, David

المساهمون: EUROCAT Working Group

المصدر: Boyd, P A, Devigan, C, Khoshnood, B, Loane, M, Garne, E, Dolk, H & Working Group, EUROCAT 2008, ' Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome ', British Journal of Obstetrics and Gynecology, vol. 115, no. 6, pp. 689-696 . https://doi.org/10.1111/j.1471-0528.2008.01700.x
Bjog
Bjog : An International Journal of Obstetrics and Gynaecology, vol. 115, no. 6, pp. 689-696

مصطلحات موضوعية: Questionnaires, Pediatrics, medicine.medical_specialty, Down syndrome, Population, Aneuploidy, termination of pregnancy for fetal anomaly, Prenatal diagnosis, Gestational Age, prenatal screening policies, Europe, structural malformations, chromosome aberrations, neural tube defects, neural tube defect, Abortion, Induced/statistics & numerical data, Down Syndrome/diagnosis, Down Syndrome/drug therapy, Europe/epidemiology, Female, Genetic Testing/statistics & numerical data, Health Policy, Humans, Neural Tube Defects/diagnosis, Pregnancy, Pregnancy Trimesters, Prenatal Diagnosis/statistics & numerical data, Ultrasonography, Prenatal/statistics & numerical data, Ultrasonography, Prenatal, Surveys and Questionnaires, Prenatal Diagnosis, medicine, Genetic Testing, Neural Tube Defects, education, Down's syndrome, Fetal Medicine, education.field_of_study, Antenatal screening policy, Neural tube defect, business.industry, Genetic Screening, Obstetrics and Gynecology, Gestational age, Abortion, Induced, medicine.disease, Down Syndrome, business, Trisomy

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0c9b9260d6ca8a6f8fdd7f360194035
https://doi.org/10.1111/j.1471-0528.2008.01700.x