المؤلفون: Nanna Dahl Rendtorff, Øivind Nilssen, Pernille Mathiesen Tørring, Marika F. Moldenæs, Lone Sandbjerg Hindbæk, Lisbeth Tranebjærg

المصدر: Moldenæs, M F, Rendtorff, N D, Hindbæk, L S, Tørring, P M, Nilssen, Ø & Tranebjærg, L 2021, ' Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome ', European Journal of Medical Genetics, vol. 64, no. 9, 104265 . https://doi.org/10.1016/j.ejmg.2021.104265Test

مصطلحات موضوعية: 0301 basic medicine, Proband, Adult, Male, VDP::Medisinske Fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710::Medisinsk genetikk: 714, Adolescent, SOX10, 030105 genetics & heredity, Biology, VDP::Medical disciplines: 700::Basic medical, dental and veterinary science disciplines: 710::Medical genetics: 714, Hearing impairment, 03 medical and health sciences, Exon, CHARGE syndrome, Genetics, medicine, Humans, Waardenburg Syndrome, Allele, Profound hearing impairment, Child, Gene, Genetics (clinical), Waardenburg syndrome, SOXE Transcription Factors, Semicircular canals, General Medicine, medicine.disease, 030104 developmental biology, Phenotype, Mutation, embryonic structures, Female

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a5f8b73c9b80a737751145219db75a4Test
https://hdl.handle.net/10037/22718Test

المؤلفون: Christopher Graham Fenton, Inga Viktoria Hensel, Endre Anderssen, Ruth H. Paulssen, Jon Florholmen, Hagar Taman

المصدر: Journal of Crohn's & Colitis

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, VDP::Medisinske Fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710::Medisinsk genetikk: 714, Biopsy, Bisulfite sequencing, Gene Expression, VDP::Medical disciplines: 700::Basic medical, dental and veterinary science disciplines: 710::Medical genetics: 714, Genome, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, ulcerative colitis [UC], Medicine, Homeostasis, Humans, Genetic Predisposition to Disease, Epigenetics, RNA, Messenger, Intestinal Mucosa, Gene, Aged, Genetics, business.industry, Tumor Necrosis Factor-alpha, Interleukins, Gastroenterology, General Medicine, Methylation, Original Articles, Sequence Analysis, DNA, DNA Methylation, Middle Aged, 030104 developmental biology, CpG site, chemistry, Case-Control Studies, DNA methylation, Genome-wide DNA methylation, 030211 gastroenterology & hepatology, Colitis, Ulcerative, CpG Islands, Female, Chemokines, business, DNA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5730bd0cf63e1339d75c378c29a8b47Test
http://europepmc.org/articles/PMC6236200Test

المؤلفون: Winther, Alise Marie

المساهمون: Glad, Ragnhild, Nystad, Mona

مصطلحات موضوعية: VDP::Medisinske Fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710::Medisinsk genetikk: 714, Prenatal diagnosis, chromosomal microarray analysis, Genetics, VDP::Medical disciplines: 700::Basic medical, dental and veterinary science disciplines: 710::Medical genetics: 714, humanities, MED-3950

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d5b955c273cf5e6adb99723d81326e88Test
https://hdl.handle.net/10037/15743Test

المؤلفون: Fiorito, G., Mccrory, C., Robinson, O., Carmeli, C., Rosales, C. O., Zhang, Y., Colicino, E., Dugue, P. -A., Artaud, F., Mckay, G. J., Jeong, A., Mishra, P. P., Nost, T. H., Krogh, V., Panico, S., Sacerdote, C., Tumino, R., Palli, D., Matullo, G., Guarrera, S., Gandini, M., Bochud, M., Dermitzakis, E., Muka, T., Schwartz, J., Vokonas, P. S., Just, A., Hodge, A. M., Giles, G. G., Southey, M. C., Hurme, M. A., Young, I., Mcknight, A. J., Kunze, S., Waldenberger, M., Peters, A., Schwettmann, L., Lund, E., Baccarelli, A., Milne, R. L., Kenny, R. A., Elbaz, A., Brenner, H., Kee, F., Voortman, T., Probst-Hensch, N., Lehtimaki, T., Elliot, P., Stringhini, S., Vineis, P., Polidoro, S., Alberts, J., Alenius, H., Avendano, M., Baltar, V., Bartley, M., Barros, H., Bellone, M., Berger, E., Blane, D., Candiani, G., Carra, L., Castagne, R., Chadeau-Hyam, M., Cima, S., Clavel-Chapelon, F., Costa, G., Courtin, E., Delpierre, C., D'Errico, A., Dermitzakis, M., Elovainio, M., Elliott, P., Fagherazzi, G., Fraga, S., Gares, V., Gerbouin-Rerolle, P., Giles, G., Goldberg, M., Greco, D., Guessous, I., Haba-Rubio, J., Heinzer, R., Hodge, A., Joost, S., Karimi, M., Kelly-Irving, M., Kahonen, M., Karisola, P., Khenissi, L., Kivimaki, M., Laine, J., Lang, T., Laurent, A., Layte, R., Lepage, B., Lorsch, D., Macguire, F., Machell, G., Mackenbach, J., Marmot, M., de Mestral, C., Miller, C., Milne, R., Muennig, P., Nusselder, W., Petrovic, D., Pilapil, L., Preisig, M., Pulkki-Raback, L., Raitakari, O., Ribeiro, A. I., Ricceri, F., Recalcati, P., Reinhard, E., Valverde, J. R., Saba, S., Santegoets, F., Satolli, R., Simmons, T., Severi, G., Shipley, M. J., Tabak, A., Terhi, V., Tieulent, J., Vaccarella, S., Vigna-Taglianti, F., Vollenweider, P., Vuilleumier, N., Zins, M.

المساهمون: Medical Research Council (MRC), Commission of the European Communities, BIOS Consortium, Lifepath consortium, Epidemiology, Dermitzakis, Emmanouil, Stringhini, Silvia

المصدر: Fiorito, Giovanni; McCrory, Cathal; Robinson, Oliver; Carmeli, Cristian; Rosales, Carolina Ochoa; Zhang, Yan; Colicino, Elena; Dugué, Pierre-Antoine; Artaud, Fanny; McKay, Gareth J; Jeong, Ayoung; Mishra, Pashupati P; Nøst, Therese H; Krogh, Vittorio; Panico, Salvatore; Sacerdote, Carlotta; Tumino, Rosario; Palli, Domenico; Matullo, Giuseppe; Guarrera, Simonetta; ... (2019). Socioeconomic position, lifestyle habits and biomarkers of epigenetic aging: a multi-cohort analysis. Aging, 11(7), pp. 2045-2070. Impact Journals 10.18632/aging.101900 <http://dx.doi.org/10.18632/aging.101900Test>
Aging
Aging 11, 2045-2070 (2019)
Aging, vol. 11, no. 7, pp. 2045-2070
Aging-Us, 11(7), 2045-2070. Impact Journals LLC
BIOS Consortium 2019, ' Socioeconomic position, lifestyle habits and biomarkers of epigenetic aging: a multi-cohort analysis ', Aging, vol. 11, no. 7, pp. 2045-2070 . https://doi.org/10.18632/aging.101900Test
Aging (Albany NY)
Aging, Vol. 11, No 7 (2019) pp. 2045-2070

مصطلحات موضوعية: Male, Aging, Geriatrics & Gerontology, Disease, epigenetic clocks, Bioinformatics, 0601 Biochemistry and Cell Biology, DISEASE, Epigenesis, Genetic, Cohort Studies, 0302 clinical medicine, Risk Factors, DNA METHYLATION, media_common, 0303 health sciences, education, Lifepath consortium, VDP::Medisinske Fag: 700::Helsefag: 800::Samfunnsmedisin, sosialmedisin: 801, CARDIOVASCULAR RISK, Aged, Aging/genetics, Aging/psychology, DNA Methylation, Educational Status, Female, Humans, Life Style, Mutation, Social Class, biological aging, socioeconomic position, Longevity, ASSOCIATION, Biological aging, Education, Epigenetic clocks, Socioeconomic position, 3. Good health, WIDE METHYLATION, Aging/genetics/psychology, DNA methylation, Biomarker (medicine), HEALTH, BIOS Consortium, Life Sciences & Biomedicine, Research Paper, Cohort study, VDP::Medisinske Fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710::Medisinsk genetikk: 714, media_common.quotation_subject, CANCER-RISK, 610 Medicine & health, VDP::Medical disciplines: 700::Basic medical, dental and veterinary science disciplines: 710::Medical genetics: 714, Biology, PERIPHERAL-BLOOD, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Genetic, 360 Social problems & social services, 1112 Oncology and Carcinogenesis, Epigenetics, ddc:613, 030304 developmental biology, Science & Technology, Mechanism (biology), MUTATIONS, dNaM, Socioeconomic Position, Biological Aging, Epigenetic Clocks, Cell Biology, 0606 Physiology, DRIFT, VDP::Medical disciplines: 700::Health sciences: 800::Community medicine, Social medicine: 801, 030217 neurology & neurosurgery, Epigenesis

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0c531c6ac0009aaae2d6dac18a62554Test

المؤلفون: Julia Sealock, Linda R. White, John Hardy, Geir Bråthen, Danielle Posthuma, Christiaan de Leeuw, Ingvild Saltvedt, Julien Bryois, Lea K. Davis, Timothy J. Hohman, Logan Dumitrescu, Nancy L. Pedersen, Petroula Proitsi, Francesco Bettella, Eystein Stordal, Dylan M. Williams, Sigrid Botne Sando, Sven Stringer, Stacy Steinberg, Jon Snaedal, Steven J. Kiddle, Jens Hjerling-Leffler, Fred Andersen, Ida K. Karlsson, Yunpeng Wang, Palmi V. Jonsson, Nicola Voyle, Jeanne E. Savage, Ingun Ulstein, Stephan Ripke, Richard Dobson, Anne Brækhus, Arvid Rongve, Sverre Bergh, Hreinn Stefansson, Dag Aarsland, Kyoko Watanabe, Patrick F. Sullivan, Maryam Shoai, Geir Selbæk, Sigurbjorn Bjornsson, Rahul S. Desikan, Srdjan Djurovic, Ina S. Almdahl, Sara Hägg, Kari Stefansson, Lavinia Athanasiu, Nathan G. Skene, Aree Witoelar, Iris E. Jansen, Ole A. Andreassen, Wiesje M. van der Flier, Tormod Fladby

المساهمون: Neurology, Amsterdam Neuroscience - Neurodegeneration, APH - Personalized Medicine, APH - Methodology, Epidemiology and Data Science, Human genetics, Amsterdam Reproduction & Development (AR&D), Complex Trait Genetics, Theoretical Computer Science, Functional Genomics, Jansen, Iris E [0000-0003-1901-8131], Savage, Jeanne E [0000-0002-2034-8341], Steinberg, Stacy [0000-0001-7726-5152], Hägg, Sara [0000-0002-2452-1500], Proitsi, Petroula [0000-0002-2553-6974], Stringer, Sven [0000-0003-3115-8532], Almdahl, Ina S [0000-0001-6070-4921], Bråthen, Geir [0000-0003-3224-7983], de Leeuw, Christiaan [0000-0003-1076-9828], Djurovic, Srdjan [0000-0002-8140-8061], Hohman, Timothy J [0000-0002-3377-7014], Kiddle, Steven J [0000-0003-4350-7437], Skene, Nathan G [0000-0002-6807-3180], Stordal, Eystein [0000-0002-2443-7923], Hjerling-Leffler, Jens [0000-0002-4539-1776], Dobson, Richard [0000-0003-4224-9245], Davis, Lea K [0000-0001-5143-2282], Stefansson, Kari [0000-0003-1676-864X], Andreassen, Ole A [0000-0002-4461-3568], Posthuma, Danielle [0000-0001-7582-2365], Apollo - University of Cambridge Repository

المصدر: Nature Genetics, 51(3), 404-413. Nature Publishing Group
Jansen, I E, Savage, J E, Watanabe, K, Bryois, J, Williams, D M, Steinberg, S, Sealock, J, Karlsson, I K, Hägg, S, Athanasiu, L, Voyle, N, Proitsi, P, Witoelar, A, Stringer, S, Aarsland, D, Almdahl, I S, Andersen, F, Bergh, S, Bettella, F, Bjornsson, S, Brækhus, A, Bråthen, G, de Leeuw, C, Desikan, R S, Djurovic, S, Dumitrescu, L, Fladby, T, Hohman, T J, Jonsson, P V, Kiddle, S J, Rongve, A, Saltvedt, I, Sando, S B, Selbæk, G, Shoai, M, Skene, N G, Snaedal, J, Stordal, E, Ulstein, I D, Wang, Y, White, L R, Hardy, J, Hjerling-Leffler, J, Sullivan, P F, van der Flier, W M, Dobson, R, Davis, L K, Stefansson, H, Stefansson, K, Pedersen, N L, Ripke, S, Andreassen, O A & Posthuma, D 2019, ' Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk ', Nature Genetics, vol. 51, no. 3, pp. 404-413 . https://doi.org/10.1038/s41588-018-0311-9Test
Jansen, I E, Savage, J E, Watanabe, K, Bryois, J, Williams, D M, Steinberg, S, Sealock, J, Karlsson, I K, Hägg, S, Athanasiu, L, Voyle, N, Proitsi, P, Witoelar, A, Stringer, S, Aarsland, D, Almdahl, I S, Andersen, F, Bergh, S, Bettella, F, Bjornsson, S, Brækhus, A, Bråthen, G, de Leeuw, C, Desikan, R S, Djurovic, S, Dumitrescu, L, Fladby, T, Hohman, T J, Jonsson, P V, Kiddle, S J, Rongve, A, Saltvedt, I, Sando, S B, Selbæk, G, Shoai, M, Skene, N G, Snaedal, J, Stordal, E, Ulstein, I D, Wang, Y, White, L R, Hardy, J, Hjerling-Leffler, J, Sullivan, P F, van der Flier, W M, Dobson, R, Davis, L K, Stefansson, H, Stefansson, K, Pedersen, N L, Ripke, S, Andreassen, O A & Posthuma, D 2019, ' Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk ', Nature Genetics, vol. 51, no. 3, pp. 404-413 . https://doi.org/10.1038/s41588-018-0311-9Test
Nature Genetics

مصطلحات موضوعية: MISSENSE MUTATIONS, Male, Genome-wide association study, Disease, VARIANTS, ANNOTATION, 0302 clinical medicine, RARE, Polymorphism (computer science), POLYGENIC RISK, 11 Medical and Health Sciences, GENE-EXPRESSION, Genetics, Genetics & Heredity, 0303 health sciences, DEMENTIA, VDP::Medical disciplines: 700::Clinical medical disciplines: 750::Geriatrics: 778, COGNITIVE RESERVE, ASSOCIATION, Middle Aged, Female, Alzheimer's disease, Life Sciences & Biomedicine, Adult, Risk, VDP::Medisinske Fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710::Medisinsk genetikk: 714, Quantitative Trait Loci, Biology, Quantitative trait locus, VDP::Medical disciplines: 700::Basic medical, dental and veterinary science disciplines: 710::Medical genetics: 714, Polymorphism, Single Nucleotide, 03 medical and health sciences, Young Adult, SDG 3 - Good Health and Well-being, Alzheimer Disease, Genetic variation, Mendelian randomization, medicine, Humans, Genetic Predisposition to Disease, 030304 developmental biology, Science & Technology, Case-control study, 06 Biological Sciences, medicine.disease, DISCOVERY, Case-Control Studies, VDP::Medisinske Fag: 700::Klinisk medisinske fag: 750::Geriatri: 778, 030217 neurology & neurosurgery, Genome-Wide Association Study, Developmental Biology

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a962a380017ba61e1af21ea26eff5ad6Test
https://research.vumc.nl/en/publications/8c0567cc-6ec7-4649-a3f5-8b4da2a5f679Test

المؤلفون: Gun Peggy Knudsen, Camilla Stoltenberg, Øyvind Helgeland, Petur Benedikt Juliusson, Anders Molven, Per Magnus, Marc Vaudel, Rolv T. Lie, Jørn V. Sagen, Kristian Hveem, Pål R. Njølstad, Haakon Lindekleiv, Oddgeir L. Holmen, Stefan Johansson, Jonas Bacelis, Bo Jacobsson, Julius Juodakis

المصدر: Nature Communications
Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Leptin, Male, 0301 basic medicine, General Physics and Astronomy, Physiology, Genome-wide association study, 030105 genetics & heredity, Genome-wide association studies, Body Mass Index, Cohort Studies, Homeostasis, Early childhood, Child, lcsh:Science, 2. Zero hunger, Multidisciplinary, Norway, Genomics, Phenotype, Child, Preschool, Receptors, Leptin, Female, Medical genomics, Adenylyl Cyclases, Cohort study, Adult, VDP::Medisinske Fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710::Medisinsk genetikk: 714, Genotype, Science, Quantitative trait locus, Biology, VDP::Medical disciplines: 700::Basic medical, dental and veterinary science disciplines: 710::Medical genetics: 714, Paediatric research, Polymorphism, Single Nucleotide, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, VDP::Medisinske Fag: 700::Klinisk medisinske fag: 750::Pediatri: 760, VDP::Medical disciplines: 700::Clinical medical disciplines: 750::Pediatrics: 760, Humans, Genetic association, Leptin receptor, Genetic Variation, Infant, General Chemistry, 030104 developmental biology, Genetic Loci, lcsh:Q, Body mass index, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62d953330dad07e76099b4cec162cfd8Test
https://hdl.handle.net/11250/3008445Test

المؤلفون: Barlindhaug, Håkon Hoyer

المساهمون: Nilssen, Øivind, Stensland, Hilde Monica

مصطلحات موضوعية: VDP::Medisinske Fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710::Medisinsk genetikk: 714, VDP::Medical disciplines: 700::Basic medical, dental and veterinary science disciplines: 710::Medical genetics: 714, MED-3950

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1546c096a7df058547cedfc8d64eef06Test
https://hdl.handle.net/10037/15722Test

المؤلفون: Hoem, Gry

المساهمون: Johansen, Terje

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, DOKTOR-003, VDP::Medisinske Fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710::Medisinsk genetikk: 714, VDP::Medisinske Fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710::Medisinsk biokjemi: 726, VDP::Medical disciplines: 700::Basic medical, dental and veterinary science disciplines: 710::Medical biochemistry: 726, VDP::Medical disciplines: 700::Basic medical, dental and veterinary science disciplines: 710::Medical genetics: 714, VDP::Medical disciplines: 700::Basic medical, dental and veterinary science disciplines: 710::Medical molecular biology: 711, VDP::Medisinske Fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710::Medisinsk molekylærbiologi: 711, nervous system diseases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::42ca423bf679c585fd83e5b0b7ffc51dTest
https://hdl.handle.net/10037/14006Test

المؤلفون: Pedersen, Hege Lynum, Horvei, Kjersti Daae, Thiyagarajan, Dhivya, Norby, Gudrun, Seredkina, Natalya, Moroni, Gabriella, Eilertsen, Gro Østli, Holdaas, Hallvard, Strøm, Erik Heyerdahl, Bakland, Gunnstein, Meroni, Pier Luigi, Rekvig, Ole Petter

مصطلحات موضوعية: lupus nephritis, VDP::Medisinske Fag: 700::Klinisk medisinske fag: 750::Nefrologi, urologi: 772, VDP::Medisinske Fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710::Medisinsk genetikk: 714, VDP::Medical disciplines: 700::Clinical medical disciplines: 750::Nephrology, urology: 772, biomarker, DNase I, biopsy, VDP::Medical disciplines: 700::Basic medical, dental and veterinary science disciplines: 710::Medical genetics: 714, urine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d38d6a71a96ee582f3f458d8b804fd03Test
https://hdl.handle.net/10037/14016Test

المؤلفون: Stephanie Le Hellard, Fredrik Andersen, Stacy Steinberg, Lavinia Athanasiu, Aree Witoelar, Sverre Bergh, Tormod Fladby, Ole A. Andreassen, Anders M. Dale, Linda R. White, Eystein Stordal, Geir Bråthen, Kari Stefansson, Francesco Bettella, Srdjan Djurovic, Timothy P. Hughes, Hreinn Stefansson, Andreas Engvig, Sudheer Giddaluru, Ingun Ulstein, Anne Brækhus, Arvid Rongve, Nenad Bogdanovic, Geir Selbæk, Jon Snaedal, Yunpeng Wang, Rahul S. Desikan, Dag Aarsland, Ina S. Almdahl, Ingvild Saltvedt, Knut Engedal, Sigrid Botne Sando, Shahram Bahrami

المصدر: Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-8 (2018)

مصطلحات موضوعية: Adult, Male, Adolescent Adult Aged Alzheimer Disease / genetics* Biomarkers Case-Control Studies Female Genetic Association Studies* / methods Genetic Predisposition to Disease* Humans Male Middle Aged Norway Polymorphism, Single Nucleotide Quantitative Trait Loci* Young Adult, 0301 basic medicine, VDP::Medisinske Fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710::Medisinsk genetikk: 714, Adolescent, Quantitative Trait Loci, lcsh:Medicine, Genome-wide association study, Genomics, Disease, Quantitative trait locus, Biology, VDP::Medical disciplines: 700::Basic medical, dental and veterinary science disciplines: 710::Medical genetics: 714, Predictive markers, Polymorphism, Single Nucleotide, Genome-wide association studies, Article, Young Adult, 03 medical and health sciences, Alzheimer Disease, Polymorphism (computer science), Humans, Genetic Predisposition to Disease, lcsh:Science, Genetic Association Studies, Aged, Genetics, Multidisciplinary, Norway, Disease genetics, lcsh:R, Case-control study, Middle Aged, Alzheimer's disease, 030104 developmental biology, Case-Control Studies, Cerebellar cortex, Meta-analysis, Female, lcsh:Q, Biomarkers

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa5dca83304115c663e6c82d39d6a81bTest
http://hdl.handle.net/10852/72134Test