Search Results - "MESH: Genetic Predisposition to Disease"
-
1
Authors: et al.
Contributors: et al.
Source: Calcified Tissue International. 115:591-598
Subject Terms: Male, Adult, LRP5, MESH: Mutation, Adolescent, MESH: Age of Onset, [SDV]Life Sciences [q-bio], MESH: Membrane Glycoproteins, Cohort Studies, MESH: Microfilament Proteins, Young Adult, Digenism, Bone Density, MESH: Child, Early-onset osteoporosis, Humans, Genetic Predisposition to Disease, Age of Onset, Preschool, Child, MESH: Bone Density, MESH: Cohort Studies, MESH: Adolescent, MESH: Humans, MESH: Middle Aged, Membrane Glycoproteins, Microfilament Proteins, MESH: Genetic Predisposition to Disease, MESH: Adult, Middle Aged, MESH: Male, [SDV] Life Sciences [q-bio], PLS3, MESH: Young Adult, Child, Preschool, Mutation, Osteoporosis, Female, MESH: Female, MESH: Osteoporosis
Access URL: https://pubmed.ncbi.nlm.nih.gov/39316135
-
2
Authors: et al.
Contributors: et al.
Source: ISSN: 1351-5101.
Subject Terms: EBV, HLA, MHC, mononucleosis, multiple sclerosis, MESH: Adult, MESH: Cohort Studies, MESH: Middle Aged, MESH: Multiple Sclerosis / epidemiology, MESH: Multiple Sclerosis / genetics, MESH: Risk Factors, MESH: United Kingdom / epidemiology, MESH: Female, MESH: Genetic Predisposition to Disease / genetics, MESH: HLA-E Antigens, MESH: Histocompatibility Antigens Class I / genetics, MESH: Humans, MESH: Infectious Mononucleosis / epidemiology, MESH: Infectious Mononucleosis / genetics, MESH: Male, [SDV]Life Sciences [q-bio]
Relation: info:eu-repo/semantics/altIdentifier/pmid/40192262; PUBMED: 40192262; PUBMEDCENTRAL: PMC11973926
-
3
Authors: et al.
Contributors: et al.
Source: ISSN: 1059-7794.
Subject Terms: MESH: Humans, MESH: Mutation, Missense, MESH: Phenotype, MESH: Genetic Predisposition to Disease, MESH: Genetic Association Studies, MESH: Intellectual Disability, MESH: Heterozygote, MESH: Male, MESH: Dendritic Spines, MESH: Female, MESH: Pedigree, MESH: HeLa Cells, MESH: Sodium-Potassium-Exchanging ATPase, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Relation: info:eu-repo/semantics/altIdentifier/pmid/40226306; PUBMED: 40226306; PUBMEDCENTRAL: PMC11987072
-
4
Authors: et al.
Contributors: et al.
Source: ISSN: 0009-9163.
Subject Terms: POLE, adrenocortical carcinoma digenic inheritance immunotherapy MUTYH POLE, adrenocortical carcinoma, digenic inheritance, immunotherapy, MUTYH, MESH: Humans, MESH: Adrenal Cortex Neoplasms, MESH: Aged, MESH: Adrenocortical Carcinoma, MESH: Alleles, MESH: Carcinogenesis, MESH: DNA Glycosylases, MESH: Genetic Predisposition to Disease, MESH: Germ-Line Mutation, MESH: Immunotherapy, MESH: Poly-ADP-Ribose Binding Proteins, [SDV]Life Sciences [q-bio]
Relation: info:eu-repo/semantics/altIdentifier/pmid/39900383; PUBMED: 39900383; PUBMEDCENTRAL: PMC12050244
-
5
Authors: et al.
Contributors: et al.
Source: European Urology. 84:13-21
Subject Terms: Male, Medical Sciences, Bioinformatics, Urology, Black People, Diseases, [SDV.CAN]Life Sciences [q-bio]/Cancer, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, Biomedical Informatics, Polygenic risk score, [SDV.CAN] Life Sciences [q-bio]/Cancer, MESH: Risk Factors, Risk Factors, Medical Specialties, Medicine and Health Sciences, Humans, Genetic Predisposition to Disease, MESH: Humans, Prostate cancer, MESH: Genetic Predisposition to Disease, Prostatic Neoplasms, MESH: Black People, [SDV.MHEP.UN] Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, MESH: Male, 3. Good health, Oncology, African ancestry, MESH: Prostatic Neoplasms, MESH: Genome-Wide Association Study, Susceptibility loci, Aggressive prostate cancer, Genome-Wide Association Study
File Description: application/pdf; Print-Electronic
-
6
Authors: et al.
Contributors: et al.
Source: Darst, B F, Shen, J, Madduri, R K, Rodriguez, A A, Xiao, Y, Sheng, X, Saunders, E J, Dadaev, T, Brook, M N, Hoffmann, T J, Muir, K, Wan, P, Le Marchand, L, Wilkens, L, Wang, Y, Schleutker, J, MacInnis, R J, Cybulski, C, Neal, D E, Nordestgaard, B G, Nielsen, S F, Batra, J, Clements, J A, Cancer BioResource, A P, Grönberg, H, Pashayan, N, Travis, R C, Park, J Y, Albanes, D, Weinstein, S, Mucci, L A, Hunter, D J, Penney, K L, Tangen, C M, Hamilton, R J, Parent, M-É, Stanford, J L, Koutros, S, Wolk, A, Sørensen, K D, Blot, W J, Yeboah, E D, Mensah, J E, Lu, Y-J, Schaid, D J, Thibodeau, S N, West, C M, Maier, C, Kibel, A S, Cancel-Tassin, G & NC-LA PCaP Investigators 2023, ' Evaluating approaches for constructing polygenic risk scores for prostate cancer in men of African and European ancestry ', American Journal of Human Genetics, vol. 110, no. 7, pp. 1200-1206 . https://doi.org/10.1016/j.ajhg.2023.05.010
Subject Terms: Male, Multifactorial Inheritance, Black People, [SDV.CAN]Life Sciences [q-bio]/Cancer, White People, [SDV.CAN] Life Sciences [q-bio]/Cancer, SDG 3 - Good Health and Well-being, MESH: Risk Factors, Risk Factors, Humans, genetics, Genetic Predisposition to Disease, genome-wide polygenic risk score, 10. No inequality, Multifactorial Inheritance/genetics, health disparities, MESH: Humans, Prostatic Neoplasms/genetics, MESH: Genetic Predisposition to Disease, Prostatic Neoplasms, MESH: Black People, Black People/genetics, risk modeling, prostate cancer, ta3122, MESH: Male, 3. Good health, African ancestry, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, MESH: Prostatic Neoplasms, MESH: Genome-Wide Association Study, polygenic risk score, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, MESH: Multifactorial Inheritance, Genome-Wide Association Study
File Description: application/pdf
Access URL: https://pubmed.ncbi.nlm.nih.gov/37311464
http://juuli.fi/Record/0676035523
https://doi.org/10.1016/j.ajhg.2023.05.010
https://pure.eur.nl/en/publications/ee0339fd-5302-4e9a-8e6b-2d5ace1a9aa3
https://doi.org/10.1016/j.ajhg.2023.05.010
https://ora.ox.ac.uk/objects/uuid:c5e2a451-39b8-409d-8bad-e624cdd99b81
https://doi.org/10.1016/j.ajhg.2023.05.010
https://univ-rennes.hal.science/hal-04165847v1
https://univ-rennes.hal.science/hal-04165847v1/document
https://doi.org/10.1016/j.ajhg.2023.05.010
https://pure.au.dk/portal/en/publications/a1c60cef-54fc-4c5d-ad22-bb6121814d39
http://www.scopus.com/inward/record.url?scp=85165069171&partnerID=8YFLogxK
https://pmc.ncbi.nlm.nih.gov/articles/PMC10357473/pdf/main.pdf
https://doi.org/10.1016/j.ajhg.2023.05.010 -
7
Authors: et al.
Contributors: et al.
Source: European Urology. 81:458-462
Subject Terms: Male, [SDV.CAN]Life Sciences [q-bio]/Cancer, Rare genetic variants, 03 medical and health sciences, 0302 clinical medicine, [SDV.CAN] Life Sciences [q-bio]/Cancer, MESH: Germ-Line Mutation, MESH: Homeodomain Proteins, Genetics, MESH: Early Detection of Cancer, Humans, Genetic Predisposition to Disease, Early Detection of Cancer, Germ-Line Mutation, Homeodomain Proteins, MESH: Humans, Prostate cancer, MESH: Genetic Predisposition to Disease, Prostatic Neoplasms, HOXB13, Prostate-Specific Antigen, MESH: Case-Control Studies, MESH: Male, MESH: Prostate-Specific Antigen, 3. Good health, MESH: Germ Cells, Allelic age, Germ Cells, African ancestry, MESH: Prostatic Neoplasms, Case-Control Studies, Health disparities
File Description: application/pdf; Print-Electronic
Access URL: https://pubmed.ncbi.nlm.nih.gov/35031163
-
8
Authors: et al.
Contributors: et al.
Source: ISSN: 2045-2322.
Subject Terms: Bioinformatics, Cancer susceptibility, Comparative genomics, Evolution, HyPhy, Mammals, MESH: Animals, MESH: Evolution, Molecular, MESH: Mammals, MESH: Neoplasms, MESH: Phylogeny, MESH: Humans, MESH: Selection, Genetic, MESH: Oncogenes, MESH: Genes, Tumor Suppressor, MESH: Genetic Predisposition to Disease, [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], [SDV.BID.EVO]Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE], [SDV.CAN]Life Sciences [q-bio]/Cancer
Relation: info:eu-repo/semantics/altIdentifier/pmid/38773187; PUBMED: 38773187; PUBMEDCENTRAL: PMC11109183; WOS: 001229019100006
-
9
Authors: et al.
Contributors: et al.
Source: EISSN: 2056-5933 ; RMD Open ; https://nantes-universite.hal.science/hal-05093317 ; RMD Open, 2024, 10 (4), pp.e004694. ⟨10.1136/rmdopen-2024-004694⟩
Subject Terms: epidemiology, giant cell arteritis, vasculitis, MESH: Humans, MESH: Dioxygenases, MESH: Prospective Studies, MESH: Janus Kinase 2, MESH: Cluster Analysis, MESH: Clonal Hematopoiesis, MESH: High-Throughput Nucleotide Sequencing, MESH: Aged, 80 and over, MESH: Case-Control Studies, MESH: Risk Factors, MESH: Genetic Predisposition to Disease, MESH: Prognosis, MESH: Giant Cell Arteritis, MESH: DNA Methyltransferase 3A, MESH: Autoimmune Diseases, MESH: Female, MESH: Male, MESH: DNA-Binding Proteins, MESH: Mutation, MESH: Proto-Oncogene Proteins, MESH: Middle Aged, [SDV]Life Sciences [q-bio]
Relation: info:eu-repo/semantics/altIdentifier/pmid/39658053; PUBMED: 39658053; PUBMEDCENTRAL: PMC11647381
-
10
Authors: et al.
Contributors: et al.
Source: ISSN: 1471-2334 ; BMC Infectious Diseases ; https://pasteur.hal.science/pasteur-04691607 ; BMC Infectious Diseases, 2024, 24 (1), pp.616. ⟨10.1186/s12879-024-09503-w⟩.
Subject Terms: Chronic hepatitis B virus, Single-nucleotide polymorphism, TLR3, TLR4, MESH: Humans, MESH: Toll-Like Receptor 3, MESH: Mauritania, MESH: Young Adult, MESH: Hepatitis B virus, MESH: Male, MESH: Female, MESH: Case-Control Studies, MESH: Polymorphism, Single Nucleotide, MESH: Adult, MESH: Hepatitis B, Chronic, MESH: Genetic Predisposition to Disease, MESH: Middle Aged, [SDV]Life Sciences [q-bio]
Relation: info:eu-repo/semantics/altIdentifier/pmid/38907187; PUBMED: 38907187; PUBMEDCENTRAL: PMC11191147
-
11
Authors: et al.
Contributors: et al.
Source: ISSN: 0378-1119.
Subject Terms: GDF9, Penetrance, Premature ovarian insufficiency, MESH: Humans, MESH: Female, MESH: Genes, Recessive, MESH: Primary Ovarian Insufficiency, MESH: Growth Differentiation Factor 9, MESH: Adult, MESH: Frameshift Mutation, MESH: Mutation, Missense, MESH: High-Throughput Nucleotide Sequencing, MESH: Genetic Predisposition to Disease, MESH: Cohort Studies, [SDV]Life Sciences [q-bio]
Relation: info:eu-repo/semantics/altIdentifier/pmid/38942181; PUBMED: 38942181
-
12
Authors: et al.
Contributors: et al.
Source: ISSN: 1098-3600.
Subject Terms: MAP3K enzymes, Neurodevelopmental disorder, TAOK1, TAOK2, Thousand and one kinase family, MESH: Humans, MESH: Male, MESH: Infant, MESH: Megalencephaly, MESH: Retrospective Studies, MESH: Mutation, Missense, MESH: Exome Sequencing, MESH: Adult, MESH: Autistic Disorder, MESH: Genetic Association Studies, MESH: Genetic Predisposition to Disease, MESH: Obesity, MESH: Neurodevelopmental Disorders, MESH: Female, MESH: Phenotype, MESH: Child, MESH: Protein Serine-Threonine Kinases, Preschool, MESH: Genotype, MESH: Adolescent, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology
Relation: info:eu-repo/semantics/altIdentifier/pmid/39737487; PUBMED: 39737487
-
13
Authors: et al.
Contributors: et al.
Source: ISSN: 0007-1250.
Subject Terms: Schizophrenia, arrhythmia, causality, electrocardiogram, genetics, MESH: Humans, MESH: Schizophrenia, MESH: Genome-Wide Association Study, MESH: Electrocardiography, MESH: Arrhythmias, Cardiac, MESH: Mendelian Randomization Analysis, MESH: Genetic Predisposition to Disease, MESH: Brugada Syndrome, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Relation: info:eu-repo/semantics/altIdentifier/pmid/39512114; PUBMED: 39512114; PUBMEDCENTRAL: PMC7616879
Availability: https://hal.science/hal-05098815
https://hal.science/hal-05098815v1/document
https://hal.science/hal-05098815v1/file/associations-of-schizophrenia-with-arrhythmic-disorders-and-electrocardiogram-traits-genetic-exploration-of-population-samples.pdf
https://doi.org/10.1192/bjp.2024.165 -
14
Authors: et al.
Contributors: et al.
Source: Genet Med
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Dipòsit Digital de la UB
Universidad de Barcelona
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
instname
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
HEBON Investigators, KConFab Investigators, GEMO Study Collaborators, EMBRACE Collaborators & OCGN Investigators 2021, 'The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant', Genetics in Medicine, vol. 23, no. 9, pp. 1726-1737. https://doi.org/10.1038/s41436-021-01198-7
Genetics in Medicine, 23, 9, pp. 1726-1737
Lakeman, I M M, van den Broek, A J, Vos, J A M, Barnes, D R, Adlard, J, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Balmaña, J, Barrowdale, D, Benitez, J, Borg, A, Caldés, T, Caligo, M A, Chung, W K, Claes, K B M, Barouk-Simonet, E, Belotti, M, Berthet, P, Bignon, Y J, Bonadona, V, Bressac-de Paillerets, B, Buecher, B, Caputo, S, Caron, O, Castera, L, Caux-Moncoutier, V, Colas, C, Collonge-Rame, M A, Coupier, I, de Pauw, A, Delnatte, C, Elan, C, Faivre, L, Ferrer, S F, Gauthier-Villars, M, Gesta, P, Giraud, S, Golmard, L, Houdayer, C, Lasset, C, Laurent, M, Leroux, D, Longy, M, Mari, V, Mazoyer, S, Mebirouk, N, Mortemousque, I, Jensen, U B, GEMO Study Collaborators, EMBRACE Collaborators, OCGN Investigators, HEBON Investigators & KConFab Investigators 2021, 'The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant', Genetics in Medicine, vol. 23, no. 9, pp. 1726-1737. https://doi.org/10.1038/s41436-021-01198-7
Lakeman, I M M, van den Broek, A J, Vos, J A M, Barnes, D R, Adlard, J, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Balmaña, J, Barrowdale, D, Benitez, J, Borg, A, Caldés, T, Caligo, M A, Chung, W K, Claes, K B M, Barouk-Simonet, E, Belotti, M, Berthet, P, Bignon, Y J, Bonadona, V, Bressac-de Paillerets, B, Buecher, B, Caputo, S, Caron, O, Castera, L, Caux-Moncoutier, V, Colas, C, Collonge-Rame, M A, Coupier, I, de Pauw, A, Delnatte, C, Elan, C, Faivre, L, Ferrer, S F, Gauthier-Villars, M, Gesta, P, Giraud, S, Golmard, L, Houdayer, C, Lasset, C, Laurent, M, Leroux, D, Longy, M, Mari, V, Mazoyer, S, Mebirouk, N, Mortemousque, I, Gerdes, A M, GEMO Study Collaborators, EMBRACE Collaborators, OCGN Investigators, HEBON Investigators & kConFab Investigators 2021, ' The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant ', Genetics in Medicine, vol. 23, no. 9, pp. 1726-1737 . https://doi.org/10.1038/s41436-021-01198-7
Lakeman, I M M, van den Broek, A J, Vos, J A M, Barnes, D R, Adlard, J, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Balmaña, J, Barrowdale, D, Benitez, J, Borg, A, Caldés, T, Caligo, M A, Chung, W K, Claes, K B M, Barouk-Simonet, E, Belotti, M, Berthet, P, Bignon, Y J, Bonadona, V, Bressac-de Paillerets, B, Buecher, B, Caputo, S, Caron, O, Castera, L, Caux-Moncoutier, V, Colas, C, Collonge-Rame, M A, Coupier, I, de Pauw, A, Delnatte, C, Elan, C, Faivre, L, Ferrer, S F, Gauthier-Villars, M, Gesta, P, Giraud, S, Golmard, L, Houdayer, C, Lasset, C, Laurent, M, Leroux, D, Longy, M, Mari, V, Mazoyer, S, Mebirouk, N, Gerdes, A M, Jensen, U B, Thomassen, M, GEMO Study Collaborators, EMBRACE Collaborators, OCGN Investigators, HEBON Investigators & kConFab Investigators 2021, ' The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant ', Genetics in Medicine, vol. 23, no. 9, pp. 1726-1737 . https://doi.org/10.1038/s41436-021-01198-7
Lakeman, IMM, van, D B AJ, Vos, JAM, Barnes, DR, Adlard, J, Andrulis, IL, Arason, A, Arnold, N, Arun, BK, Balmaña, J, Barrowdale, D, Benitez, J, Borg, A, Schmidt, MK & Evans, D G 2021, 'The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 23, no. 9, pp. 1726-1737. https://doi.org/10.1038/s41436-021-01198-7
Genetics in Medicine, vol 23, iss 9
GENETICS IN MEDICINESubject Terms: SUSCEPTIBILITY ALLELES, Diàtesi, FAMILIES, MESH: BRCA2 Protein, Breast cancer, 0302 clinical medicine, MESH: Risk Factors, KconFab Investigators, Otros calificadores::Otros calificadores::/diagnóstico, Risk Factors, Medicine and Health Sciences, 2.1 Biological and endogenous factors, Mama - Càncer - Diagnòstic, MESH: Heterozygote, Cancer, HEBON Investigators, Genetics & Heredity, Factors de risc en les malalties, BRCA1 Protein, MESH: Genetic Predisposition to Disease, article, Biological Sciences, OVARIAN, BRCA2 Protein/genetics, DISEASES::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease, 3. Good health, OCGN Investigators, Female, Malalties congènites, Adult, Heterozygote, MESH: Mutation, Polygenic risk score (PRS313), Risk factors in diseases, Clinical Sciences, Radboudumc 17: Women's cancers RIHS: Radboud Institute for Health Sciences, Breast Neoplasms, MUTATION CARRIERS, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Article, Other subheadings::Other subheadings::/diagnosis, Càncer de mama, GEMO Study Collaborators, 03 medical and health sciences, Contralateral breast cancer (CBC), SDG 3 - Good Health and Well-being, Breast Cancer, Genetics, Humans, Women, Genetic Predisposition to Disease, EMBRACE Collaborators, MESH: BRCA1 Protein, Retrospective Studies, BRCA2 Protein, MESH: Humans, ENFERMEDADES::afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::susceptibilidad a enfermedades::predisposición genética a la enfermedad, Prevention, CONSORTIUM, Breast Neoplasms/diagnosis, MESH: Adult, MESH: Retrospective Studies, BRCA1, Radboudumc 14: Tumours of the digestive tract RIHS: Radboud Institute for Health Sciences, BRCA2, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, Women's Health, BRCA1 Protein/genetics, Human Genetics - Radboud University Medical Center, MESH: Female, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de la mama, MESH: Breast Neoplasms, DISEASES::Neoplasms::Neoplasms by Site::Breast Neoplasms
File Description: application/pdf; application/zip; text/xml; text; Print-Electronic
Access URL: https://www.nature.com/articles/s41436-021-01198-7.pdf
https://pubmed.ncbi.nlm.nih.gov/34113011
https://hdl.handle.net/20.500.12530/84585
http://hdl.handle.net/2445/178786
https://hdl.handle.net/2445/178786
https://hdl.handle.net/11351/7091
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/244113
https://pubmed.ncbi.nlm.nih.gov/34113011/
https://www.repository.cam.ac.uk/handle/1810/324949
https://www.hirsla.lsh.is/handle/2336/621933
https://www.narcis.nl/publication/RecordID/oai%3Ascholarlypublications.universiteitleiden.nl%3Aitem_3213874
https://escholarship.org/uc/item/9c71h04q
https://researchportal.helsinki.fi/en/publications/the-predictive-ability-of-the-313-variant-based-polygenic-risk-sc
https://research.vumc.nl/en/publications/ccb2286d-7fdc-46b2-bc0b-425531bb3071
https://hdl.handle.net/1887/3213874
https://repository.ubn.ru.nl//bitstream/handle/2066/244113/244113.pdf
https://hdl.handle.net/2066/244113
https://pure.au.dk/ws/files/273850034/1_s2.0_S1098360021051017_main.pdf
https://curis.ku.dk/ws/files/302065928/1_s2.0_S1098360021051017_main.pdf
https://findresearcher.sdu.dk:8443/ws/files/192574540/s41436_021_01198_7.pdf
https://escholarship.org/content/qt9c71h04q/qt9c71h04q.pdf
https://escholarship.org/uc/item/9c71h04q
http://doi.org/10.1038/s41436-021-01198-7
https://biblio.ugent.be/publication/8715573
https://biblio.ugent.be/publication/8715573/file/8715577
http://hdl.handle.net/1854/LU-8715573
https://eprints.soton.ac.uk/452125/
https://pure.au.dk/ws/files/273850034/1_s2.0_S1098360021051017_main.pdf
https://doi.org/10.1038/s41436-021-01198-7
http://www.scopus.com/inward/record.url?scp=85115935642&partnerID=8YFLogxK
https://pure.au.dk/portal/en/publications/4b86801e-70a5-4702-b255-c348515c7734 -
15
Authors: et al.
Contributors: et al.
Source: Psychological Medicine. 51:2321-2336
Subject Terms: Parents, MESH: Cognitive Behavioral Therapy, MESH: Randomized Controlled Trials as Topic, Psychosocial Intervention, 03 medical and health sciences, 0302 clinical medicine, Child of Impaired Parents, MESH: Child, Humans, MESH: Child of Impaired Parents / psychology, Genetic Predisposition to Disease, 0501 psychology and cognitive sciences, MESH: Mental Disorders* / diagnosis, Child, MESH: Parents / psychology, Randomized Controlled Trials as Topic, mentally ill parents, MESH: Humans, offspring, Cognitive Behavioral Therapy, Mental Disorders, 05 social sciences, MESH: Genetic Predisposition to Disease, MESH: Mental Disorders* / prevention & control, 3. Good health, Meta-analysis, MESH: Psychosocial Intervention, preventive intervention, MESH: Risk Reduction Behavior, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, internalizing and externalizing symptoms, Risk Reduction Behavior
Access URL: https://pubmed.ncbi.nlm.nih.gov/34435556
https://www.cambridge.org/core/journals/psychological-medicine/article/abs/preventive-interventions-in-offspring-of-parents-with-mental-illness-a-systematic-review-and-metaanalysis-of-randomized-controlled-trials/24D36882C376B505170BD1A0DABB0101
https://www.ncbi.nlm.nih.gov/pubmed/34435556 -
16
Authors: et al.
Contributors: et al.
Source: Prostate Cancer Prostatic Dis
Huynh-Le, M-P, Karunamuni, R, Fan, C C, Asona, L, Thompson, W K, Martinez, M E, Eeles, R A, Kote-Jarai, Z, Muir, K R, Lophatananon, A, Schleutker, J, Pashayan, N, Batra, J, Grönberg, H, Neal, D E, Nordestgaard, B G, Tangen, C M, MacInnis, R J, Wolk, A, Albanes, D, Haiman, C A, Travis, R C, Blot, W J, Stanford, J L, Mucci, L A, West, C M L, Nielsen, S F, Kibel, A S, Cussenot, O, Berndt, S I, Koutros, S, Sørensen, K D, Cybulski, C, Grindedal, E M, Menegaux, F, Park, J Y, Ingles, S A, Maier, C, Hamilton, R J, Rosenstein, B S, Lu, Y-J, Watya, S, Vega, A, Kogevinas, M, Wiklund, F, Penney, K L, Huff, C D, Teixeira, M R, Multigner, L, Leach, R J & UKGPCS collaborators 2022, 'Prostate cancer risk stratification improvement across multiple ancestries with new polygenic hazard score', Prostate Cancer and Prostatic Diseases, vol. 25, no. 4, pp. 755-761. https://doi.org/10.1038/s41391-022-00497-7
Minh-Phuong Huynh-Le, Karunamuni, R, Fan, C C, Asona, L, Thompson, W K, Martinez, M E, Eeles, R A, Kote-Jarai, Z, Muir, K R, Lophatananon, A, Schleutker, J, Pashayan, N, Batra, J, Groenberg, H, Neal, D E, Nordestgaard, B G, Tangen, C M, MacInnis, R J, Wolk, A, Albanes, D, Haiman, C A, Travis, R C, Blot, W J, Stanford, J L, Mucci, L A, West, C M L, Nielsen, S F, Kibel, A S, Cussenot, O, Berndt, S, Koutros, S, Sorensen, K D, Cybulski, C, Grindedal, E M, Menegaux, F, Park, J Y, Ingles, S A, Maier, C, Hamilton, R J, Rosenstein, B S, Lu, Y-J, Watya, S, Vega, A, Kogevinas, M, Wiklund, F, Penney, K L, Huff, C D, Teixeira, M R, Multigner, L, Leach, R J, UKGPCS Collaborators, APCB Australian Prostate Canc BioR, NC-LA PCaP Investigators, IMPACT Study Steering Comm Collabo, Canary PASS Investigators, Profile Study Steering Comm & PRACTICAL consortium 2022, ' Prostate cancer risk stratification improvement across multiple ancestries with new polygenic hazard score ', Prostate Cancer and Prostatic Diseases, vol. 25, pp. 755–761 . https://doi.org/10.1038/s41391-022-00497-7
UKGPCS Collaborators 2022, 'Prostate cancer risk stratification improvement across multiple ancestries with new polygenic hazard score', Prostate Cancer and Prostatic Diseases. https://doi.org/10.1038/s41391-022-00497-7
Prostate Cancer and Prostatic Diseases, vol 25, iss 4
PROSTATE CANCER AND PROSTATIC DISEASESSubject Terms: SELECTION, Male, 0301 basic medicine, Aging, [SDV]Life Sciences [q-bio], Clinical sciences, LASSO, MESH: Risk Assessment, UKGPCS collaborators, 0302 clinical medicine, MESH: Risk Factors, Risk Factors, multi-ancestry datasets, Medicine and Health Sciences, PRACTICAL Consortium, Minority Health, Precision Medicine, 10. No inequality, Cancer genetics, Early Detection of Cancer, Cancer, Prostatic Neoplasms/diagnosis, 0303 health sciences, Manchester Cancer Research Centre, Prostate Cancer, MESH: Genetic Predisposition to Disease, APCB, Single Nucleotide, Urology & Nephrology, Prostate-Specific Antigen/genetics, prostate cancer, MESH: Prostate-Specific Antigen, 3. Good health, Health Disparities, [SDV] Life Sciences [q-bio], Oncology, Life Sciences & Biomedicine, Urologic Diseases, Clinical Sciences, Oncology and Carcinogenesis, The Profile Study Steering Committee, Polymorphism, Single Nucleotide, Risk Assessment, Article, Cancer screening, APCB (Australian Prostate Cancer BioResource), 03 medical and health sciences, Cancer epidemiology, SDG 3 - Good Health and Well-being, NC-LA PCaP Investigators, 3211 Oncology and carcinogenesis, Genetics, MESH: Early Detection of Cancer, Humans, 1112 Oncology and Carcinogenesis, Genetic Predisposition to Disease, Polymorphism, MESH: Polymorphism, Cancer och onkologi, Canary PASS Investigators, MESH: Humans, Science & Technology, Biomedical and Clinical Sciences, IMPACT Study Steering Committee and Collaborators, RC0254 Neoplasms. Tumors. Oncology (including Cancer), Profile Study Steering Committee, Prevention, 3202 Clinical sciences, Prostatic Neoplasms, Oncology and carcinogenesis, Prostate-Specific Antigen, MESH: Male, ResearchInstitutes_Networks_Beacons/mcrc, name=Manchester Cancer Research Centre, Good Health and Well Being, MESH: Prostatic Neoplasms, Cancer and Oncology, The PRACTICAL Consortium, The IMPACT Study Steering Committee and Collaborators
File Description: application/pdf; text/xml; Print-Electronic
Access URL: https://www.nature.com/articles/s41391-022-00497-7.pdf
https://www.medrxiv.org/content/medrxiv/early/2021/08/18/2021.08.14.21261931.full.pdf
https://pubmed.ncbi.nlm.nih.gov/35152271
https://medrxiv.org/content/10.1101/2021.08.14.21261931v1.full.pdf
https://www.medrxiv.org/content/10.1101/2021.08.14.21261931v1
http://hdl.handle.net/10852/98287
https://doi.org/10.1038/s41391-022-00497-7
https://lirias.kuleuven.be/handle/20.500.12942/707680
https://doi.org/10.1038/s41391-022-00497-7
https://lirias.kuleuven.be/handle/123456789/684888
https://doi.org/10.1101/2021.08.14.21261931
https://pure.au.dk/ws/files/331571987/s41391_022_00497_7.pdf
https://curis.ku.dk/ws/files/334004199/s41391_022_00497_7.pdf
https://discovery-pp.ucl.ac.uk/id/eprint/10144347/
https://escholarship.org/uc/item/00p470cn
https://biblio.ugent.be/publication/01HY11235RXA40PZKBEAP18GAP
http://hdl.handle.net/1854/LU-01HY11235RXA40PZKBEAP18GAP
https://biblio.ugent.be/publication/01HY11235RXA40PZKBEAP18GAP/file/01HY11PQY37QK4YTM8R05TWZG8
http://doi.org/10.1038/s41391-022-00497-7
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-489559 -
17
Authors: et al.
Contributors: et al.
Source: American Journal of Medical Genetics Part A. 185:3057-3061
Subject Terms: Male, 0301 basic medicine, [SDV]Life Sciences [q-bio], postzygotic, MESH: Cervical Vertebrae, Translocation, Genetic, Pair 11, In Situ Hybridization, Fluorescence, 0303 health sciences, Mosaicism, MESH: Genetic Predisposition to Disease, MESH: Scoliosis, [SDV] Life Sciences [q-bio], Scoliosis, MESH: Abnormalities, Chromosomes, Human, Pair 2, MESH: Translocation, Pair 2, Cervical Vertebrae, unbalanced translocation, MESH: Chromosome Banding, Female, MESH: Mosaicism, Chromosome Deletion, Multiple, Human, MESH: Chromosome Deletion, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Fluorescence, Chromosomes, MESH: Intellectual Disability, 03 medical and health sciences, MESH: In Situ Hybridization, Genetic, MESH: Uniparental Disomy, Intellectual Disability, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Kyphosis, MESH: Humans, Chromosomes, Human, Pair 11, Siblings, Uniparental Disomy, MESH: Male, MESH: Siblings, Chromosome Banding, MESH: Karyotyping, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Karyotyping, rescue, MESH: Chromosomes, mosaic, MESH: Kyphosis, MESH: Female
File Description: application/pdf
-
18
Authors: et al.
Contributors: et al.
Source: Dias, C, Pfundt, R, Kleefstra, T, Shuurs-Hoeijmakers, J, Boon, E M J, van Hagen, J M, Zwijnenburg, P, Weiss, M M, Keren, B, Mignot, C, Isapof, A, Weiss, K, Hershkovitz, T, Iascone, M, Maitz, S, Feichtinger, R G, Kotzot, D, Mayr, J A, Ben-Omran, T, Mahmoud, L, Pais, L S, Walsh, C A, Shashi, V, Sullivan, J A, Stong, N, Lecoquierre, F, Guerrot, A M, Charollais, A & Rodan, L H 2021, 'De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder', American Journal of Medical Genetics, Part A, vol. 185, no. 8, pp. 2384-2390. https://doi.org/10.1002/ajmg.a.62254
American Journal of Medical Genetics. Part A, 185, 8, pp. 2384-2390Subject Terms: MESH: Transcription Factor 7-Like 2 Protein, Male, 0301 basic medicine, MESH: Mutation, Adolescent, [SDV]Life Sciences [q-bio], Mutation, Missense, autism, MESH: Phenotype, Open Reading Frames, 03 medical and health sciences, MESH: Child, Humans, MESH: Syndrome, Genetic Predisposition to Disease, MESH: Genetic Variation, myopia, Preschool, Child, Alleles, Genetic Association Studies, MESH: Neurodevelopmental Disorders, MESH: Genetic Association Studies, MESH: Adolescent, MESH: Humans, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, MESH: Alleles, MESH: Genetic Predisposition to Disease, Genetic Variation, Syndrome, MESH: Open Reading Frames, neurodevelopmental disorder, MESH: Male, [SDV] Life Sciences [q-bio], TCF7L2, Radboudumc 14: Tumours of the digestive tract RIMLS: Radboud Institute for Molecular Life Sciences, Phenotype, intellectual disability, Neurodevelopmental Disorders, Child, Preschool, Human Genetics - Radboud University Medical Center, Female, Missense, MESH: Female, Transcription Factor 7-Like 2 Protein
Access URL: https://pubmed.ncbi.nlm.nih.gov/34003604
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/237826
https://doi.org/10.1002/ajmg.a.62254
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.62254
https://www.ncbi.nlm.nih.gov/pubmed/34003604
https://europepmc.org/article/MED/34003604
https://pubmed.ncbi.nlm.nih.gov/34003604/
https://www.narcis.nl/publication/RecordID/oai%3Arepository.ubn.ru.nl%3A2066%2F237826
https://research.vumc.nl/en/publications/7fe82b2b-2d35-4458-9542-41fc70f4a818
https://pure.amsterdamumc.nl/en/publications/ea4e8a53-d01b-4e00-ab79-44f0890e5913
https://doi.org/10.1002/ajmg.a.62254
https://hdl.handle.net/2066/237826
https://repository.ubn.ru.nl//bitstream/handle/2066/237826/237826.pdf -
19
Authors: et al.
Contributors: et al.
Source: Nat Genet
Nature genetics 53(6), 787-793 (2021). doi:10.1038/s41588-021-00847-6Subject Terms: 0301 basic medicine, Multifactorial Inheritance, [SDV]Life Sciences [q-bio], Apolipoprotein E4, MESH: Cognition, genetics [Cognition Disorders], MESH: Glucosylceramidase, genetics [Glucosylceramidase], MESH: Synapses, MESH: Proportional Hazards Models, Cognition, 0302 clinical medicine, MESH: Risk Factors, genetics [Parkinson Disease], Risk Factors, StemCellInstitute, Longitudinal Studies, MESH: Apolipoprotein E4, MESH: Longitudinal Studies, GBA protein, human, genetics [Multifactorial Inheritance], genetics [Apolipoprotein E4], MESH: Genetic Predisposition to Disease, Parkinson Disease, 3. Good health, [SDV] Life Sciences [q-bio], genetics [Synapses], MESH: Survival Analysis, Disease Progression, Glucosylceramidase, MESH: Disease Progression, physiopathology [Parkinson Disease], MESH: Mutation, genetics [Mutation], MESH: Genetic Loci, Article, 03 medical and health sciences, ddc:570, Humans, Genetic Predisposition to Disease, Proportional Hazards Models, MESH: Humans, Survival Analysis, pathology [Parkinson Disease], MESH: Cognition Disorders, Genetic Loci, MESH: Genome-Wide Association Study, Mutation, Synapses, MESH: Multifactorial Inheritance, Cognition Disorders, MESH: Parkinson Disease, Genome-Wide Association Study
File Description: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document
Access URL: https://europepmc.org/articles/pmc8459648?pdf=render
https://pubmed.ncbi.nlm.nih.gov/33958783
https://europepmc.org/article/MED/33958783
https://researchrepository.murdoch.edu.au/id/eprint/60893/
https://www.nature.com/articles/s41588-021-00847-6.pdf
https://pubmed.ncbi.nlm.nih.gov/33958783/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8459648
https://www.nature.com/articles/s41588-021-00847-6
https://www.repository.cam.ac.uk/handle/1810/316369
https://hdl.handle.net/1887/3249471
https://resolver.sub.uni-goettingen.de/purl?gro-2/85007
https://www.repository.cam.ac.uk/handle/1810/316369
https://doi.org/10.1038/s41588-021-00847-6
https://doi.org/10.17863/cam.63479 -
20
Authors: et al.
Contributors: et al.
Source: Cancer Research. 80:3593-3605
Subject Terms: 0301 basic medicine, Genes, BRCA2, [SDV.CAN]Life Sciences [q-bio]/Cancer, Breast Neoplasms, MESH: Protein Isoforms, Mice, 03 medical and health sciences, [SDV.CAN] Life Sciences [q-bio]/Cancer, Animals, Humans, Protein Isoforms, MESH: Animals, Genetic Predisposition to Disease, MESH: Mice, Ovarian Neoplasms, 0303 health sciences, MESH: Humans, MESH: Alternative Splicing, MESH: Genetic Predisposition to Disease, Exons, BRCA2, MESH: Genes, 3. Good health, MESH: Ovarian Neoplasms, Alternative Splicing, Female, MESH: Exons, MESH: Female, MESH: Breast Neoplasms
File Description: application/pdf
Access URL: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7484206
https://pubmed.ncbi.nlm.nih.gov/32641407
https://cancerres.aacrjournals.org/content/80/17/3593
https://pubmed.ncbi.nlm.nih.gov/32641407/
https://www.ncbi.nlm.nih.gov/pubmed/32641407
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7484206
https://cancerres.aacrjournals.org/content/early/2020/07/07/0008-5472.CAN-20-0895
Full Text Finder 
Nájsť tento článok vo Web of Science 
Full Text