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المؤلفون: Henry Houlden, María José Sánchez-Soler, Anna Jansen, Renske Oegema, Pier G. Mastroberardino, Kalthoum Tlili-Graiess, Javad Akhondian, Katherine A. Fawcett, Marjon van Slegtenhorst, Lisbeth Turner, Chiara Milanese, Linda S. de Vries, Nadia Bahi-Buisson, Grazia M.S. Mancini, Rachel Schot, Stephanie A. Coury, Stephanie Efthymiou, Esra Börklü-Yücel, Abdulmalik A. Alwabel, Nebal Waill Saadi, Peter G. J. Nikkels, Daniela T. Pilz, Amy Crunk, Aida M. Bertoli-Avella, Ehsan Ghayoor Karimiani, Andrew E. Fry, Robert M. Verdijk, Johan M. Kros, Faisal Zafar, Juliann M. Savatt, Hülya Kayserili, Wen-Hann Tan, Reza Maroofian, Esmee Kasteleijn, Alexandra Afenjar, Marco Post, Daphne J. Smits, Maarten H. Lequin, Richard E. Person, Nuzhat Rana, Amal Al Hashem, Nataša Jovanov Milošević, Peter J. van der Spek, Farah Bibi, Boris Keren, Mohammad Doosti, Laura Vandervore, Stefanie Brock, Maarten Fornerod
المساهمون: Clinical Genetics, Molecular Genetics, Clinical Chemistry, Cell biology, Pathology, Clinical Biology, Faculty of Medicine and Pharmacy, Physiotherapy, Human Physiology and Anatomy, Pediatrics, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics
المصدر: American Journal of Human Genetics, 105(6), 1126-1147. Cell Press
Am J Hum Genetمصطلحات موضوعية: 0301 basic medicine, Male, Developmental Disabilities, Regulator, Brain / abnormalities, calnexin, epilepsy, hydrogen peroxide, microcephaly, mitochondria-associated membrane, PDI, polymicrogyria, redox, SERCA2, TMX2, Fibroblasts / metabolism, Transcriptome, Cohort Studies, 0302 clinical medicine, Thioredoxins, Developmental Disabilities / metabolism, Genetics(clinical), Skin / metabolism, Child, Genetics (clinical), Skin, Brain Diseases, biology, Chemistry, Mitochondria / metabolism, Brain, Prognosis, Membrane Proteins / metabolism, Brain Diseases / metabolism, Cell biology, Mitochondria, Thioredoxins / genetics, Developmental Disabilities / genetics, Child, Preschool, Protein folding, Female, Thioredoxin, Oxidation-Reduction, Adult, Brain Diseases / genetics, Fibroblasts / pathology, Protein Disulfide-Isomerase Family, Adolescent, Article, 03 medical and health sciences, Brain Diseases / pathology, Calnexin, Genetics, Humans, Developmental Disabilities / pathology, Thioredoxins / metabolism, Membrane Proteins / genetics, Skin / pathology, Endoplasmic reticulum, Infant, Newborn, Membrane Proteins, Infant, Fibroblasts, Mitochondria / pathology, 030104 developmental biology, Chaperone (protein), biology.protein, 030217 neurology & neurosurgery, Follow-Up Studies
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::718663da963cc3703f35cd8dc58dc977Test
https://urn.nsk.hr/urn:nbn:hr:105:093095Test -
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المؤلفون: Basamat Almoallem, Gavin Arno, Anne Destree, Elfride De Baere, Denise Williams, Anthony T. Moore, Thomy de Ravel, Ingele Casteels, Andrew R. Webster, Sarah Hull, Irina Balikova, Bart P. Leroy, Martina Suzani, Julie De Zaeytijd, John R. Ainsworth, Hannah Verdin, Michelle Y. Peng
المساهمون: Medical Genetics
المصدر: Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
Scientific reports, vol 10, iss 1
SCIENTIFIC REPORTSمصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Medicine, Gene mutation, PHENOTYPE, Compound heterozygosity, Microphthalmia, Cohort Studies, Exon, 0302 clinical medicine, Genotype, Medicine and Health Sciences, 2.1 Biological and endogenous factors, Microphthalmos, Aetiology, lcsh:Science, Child, Genetics, Multidisciplinary, Molecular medicine, ASSOCIATION, Middle Aged, Disease gene identification, Microphthalmos/genetics, Child, Preschool, Female, FRIZZLED-RELATED PROTEIN, Adult, Serine Proteases/genetics, Heterozygote, Adolescent, DNA Copy Number Variations, Biology, Article, 03 medical and health sciences, Clinical Research, RETINITIS-PIGMENTOSA, GENE MUTATION, Retinitis pigmentosa, medicine, Humans, Family, Allele, Membrane Proteins/genetics, Preschool, Alleles, Aged, IDENTIFICATION, Whole Genome Sequencing, HIGH HYPEROPIA, lcsh:R, Membrane Proteins, Hereditary eye disease, medicine.disease, Brain Disorders, 030104 developmental biology, Mutation, 030221 ophthalmology & optometry, FOVEOSCHISIS, lcsh:Q, Serine Proteases
وصف الملف: application/pdf; Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c67f6b56f74c44ecf74e0f3c5839b48Test
https://pubmed.ncbi.nlm.nih.gov/31992737Test -
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المؤلفون: Michael R. Brown, Christian Gieger, André G. Uitterlinden, Diana van Heemst, Alison D. Murray, Stephen B. Kritchevsky, Timo A. Lakka, Karen Schwander, Federica Laguzzi, Stephen S. Rich, Rajkumar Dorajoo, Yun Ju Sung, Xiaofeng Zhu, Hugues Aschard, Jing Hua Zhao, Gregory P. Wilson, Kenneth Rice, Barbara Sternfeld, Kent D. Taylor, Paul Elliott, Ei-Ei Khaing Nang, Ilja M. Nolte, Heather M. Stringham, Bruce M. Psaty, Heming Wang, Tangchun Wu, Caroline Hayward, Vilmundur Gudnason, Fernando Pires Hartwig, Paolo Gasparini, Jingjing Liang, Neil Risch, Albertine J. Oldehinkel, Ani Manichaikul, Tibor V. Varga, Michael Y. Tsai, Niek Verweij, Xueling Sim, Norihiro Kato, Evangelos Evangelou, Philippe Froguel, Xiuqing Guo, Traci M. Bartz, Nicholette D. Palmer, Woon-Puay Koh, Rozenn N. Lemaitre, Caizheng Yu, Mike A. Nalls, Mariaelisa Graff, Eric Boerwinkle, Dabeeru C. Rao, Thomas Meitinger, Virginia Fisher, Mario Sims, Charles Kooperberg, Carl D. Langefeld, Jaakko Tuomilehto, Reedik Mägi, Wei Zhao, Wanqing Wen, Donna K. Arnett, Ervin R. Fox, Lynda M. Rose, Maris Alver, Ayse Demirkan, Solomon K. Musani, Dennis O. Mook-Kanamori, Andres Metspalu, Jerome I. Rotter, Barry I. Freedman, Jiang He, Hermina Jakupović, Steven C. Hunt, Marco Brumat, Maria Pina Concas, Rob M. van Dam, Rico Rueedi, Jonathan Marten, Chi Charles Gu, Tõnu Esko, Peter Vollenweider, Zoltán Kutalik, Olli T. Raitakari, Ya X. Wang, Yong-Bing Xiang, Pamela J. Schreiner, Antonietta Robino, Tanika N. Kelly, Igor Rudan, Mathilde Boissel, Claudia Langenberg, Yii-Der Ida Chen, Anne U. Jackson, Lawrence F. Bielak, Brenda W.J.H. Penninx, Brigitte Kühnel, Christopher P. Nelson, Konstantin Strauch, Albert V. Smith, Daniel I. Chasman, Jasmin Divers, Lisa R. Yanek, M. Arfan Ikram, Melissa A. Richard, Nilesh J. Samani, Lisa de las Fuentes, H. Janaka de Silva, Jana V. van Vliet-Ostaptchouk, Yongmei Liu, Peter J. van der Most, Fang-Chi Hsu, Jeffrey R. O'Connell, Alexandre C. Pereira, Raymond Noordam, Changwei Li, Jie Yao, Trudy Voortman, Zhe Wang, Thomas H. Mosley, Diane M. Becker, Charles N. Rotimi, Sami Heikkinen, Archie Campbell, John M. C. Connell, Lenore J. Launer, Hua Tang, Rainer Rauramaa, Ruth J. F. Loos, Pirjo Komulainen, Amy R. Bentley, Patrik Wennberg, Chew-Kiat Heng, Kari E. North, Salman M. Tajuddin, Renée de Mutsert, David J. Porteous, Susan Redline, Sarah E. Harris, Tamara B. Harris, Raha Pazoki, Mickaël Canouil, Robert A. Scott, Jingzhong Ding, Mary F. Feitosa, Jost B. Jonas, José Eduardo Krieger, John M. Starr, Karin Leander, Jennifer A. Smith, Paul W. Franks, Charles B. Eaton, Sharon L.R. Kardia, E. Shyong Tai, Jill M. Norris, Annette Peters, Chiamaka Vivian Nwuba, Jianjun Liu, Stella Aslibekyan, Nora Franceschini, Kurt Lohman, Myriam Fornage, Dina Vojinovic, Erin B. Ware, Xiaoyin Li, Najaf Amin, Johanna Kuusisto, M. Yldau van der Ende, Cora E. Lewis, Lynne E. Wagenknecht, Jennifer G. Robinson, Franco Giulianini, Ulf de Faire, Yechiel Friedlander, Nicholas J. Wareham, Meian He, George J. Papanicolau, Nancy L. Pedersen, Bernardo L. Horta, Karen L. Mohlke, Kelley Pettee Gabriel, Minjung Kho, Michele K. Evans, Ozren Polasek, Markku Laakso, Tuomas O. Kilpeläinen, Ching-Ti Liu, Michael Boehnke, Jin-Fang Chai, Ioanna Ntalla, Cornelia M. van Duijn, L. Adrienne Cupples, Yuri Milaneschi, Stephen Sidney, Alan B. Zonderman, Leo-Pekka Lyytikäinen, Mohsen Ghanbari, Harold Snieder, Donald W. Bowden, Aldi T. Kraja, Alaitz Poveda, Terho Lehtimäki, Paul S. de Vries, Dongfeng Gu, Sotoodehnia Nona, Thomas W. Winkler, Muhammad Riaz, Ian J. Deary, Fumihiko Takeuchi, Pim van der Harst, Alisa K. Manning, Michael A. Province, Andrea R. V. R. Horimoto, David R. Weir, Wei Zheng, Alanna C. Morrison, Marzyeh Amini, Jian-Min Yuan, W. James Gauderman, Paul M. Ridker, Melanie Waldenberger, Chuan Gao, Xiao-Ou Shu, Patricia B. Munroe, Patricia A. Peyser, Jessica D. Faul, Xu Chen, Brian E. Cade, Patrik K. E. Magnusson, Tamar Sofer
المساهمون: Home Office, Medical Research Council (MRC), National Institute for Health Research, Imperial College Healthcare NHS Trust- BRC Funding, UK DRI Ltd, Psychiatry, Amsterdam Neuroscience - Complex Trait Genetics, APH - Mental Health, APH - Digital Health, IT University of Copenhagen, Icahn School of Medicine at Mount Sinai [New York] (MSSM), National Institutes of Health [Bethesda] (NIH), Leiden University Medical Center (LUMC), Washington University School of Medicine in St. Louis, Washington University in Saint Louis (WUSTL), University of Regensburg, Brigham and Women's Hospital [Boston], Harvard Medical School [Boston] (HMS), Massachusetts General Hospital [Boston], Queen Mary University of London (QMUL), Département de Biologie Computationnelle - Department of Computational Biology, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), The University of Texas Health Science Center at Houston (UTHealth), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP), University of Washington [Seattle], The present work was largely supported by a grant from the US National Heart, Lung,and Blood Institute (NHLBI) of the National Institutes of Health (R01HL118305)., Kilpeläinen, Tuomas O., Bentley, Amy R., Noordam, Raymond, Sung, Yun Ju, Schwander, Karen, Winkler, Thomas W., Jakupović, Hermina, Chasman, Daniel I., Manning, Alisa, Ntalla, Ioanna, Aschard, Hugue, Brown, Michael R., de las Fuentes, Lisa, Franceschini, Nora, Guo, Xiuqing, Vojinovic, Dina, Aslibekyan, Stella, Feitosa, Mary F., Kho, Minjung, Musani, Solomon K., Richard, Melissa, Wang, Heming, Wang, Zhe, Bartz, Traci M., Bielak, Lawrence F., Campbell, Archie, Dorajoo, Rajkumar, Fisher, Virginia, Hartwig, Fernando P., Horimoto, Andrea R. V. R., Li, Changwei, Lohman, Kurt K., Marten, Jonathan, Sim, Xueling, Smith, Albert V., Tajuddin, Salman M., Alver, Mari, Amini, Marzyeh, Boissel, Mathilde, Chai, Jin Fang, Chen, Xu, Divers, Jasmin, Evangelou, Evangelo, Gao, Chuan, Graff, Mariaelisa, Harris, Sarah E., He, Meian, Hsu, Fang-Chi, Jackson, Anne U., Zhao, Jing Hua, Kraja, Aldi T., Kühnel, Brigitte, Laguzzi, Federica, Lyytikäinen, Leo-Pekka, Nolte, Ilja M., Rauramaa, Rainer, Riaz, Muhammad, Robino, Antonietta, Rueedi, Rico, Stringham, Heather M., Takeuchi, Fumihiko, van der Most, Peter J., Varga, Tibor V., Verweij, Niek, Ware, Erin B., Wen, Wanqing, Li, Xiaoyin, Yanek, Lisa R., Amin, Najaf, Arnett, Donna K., Boerwinkle, Eric, Brumat, Marco, Cade, Brian, Canouil, Mickaël, Chen, Yii-Der Ida, Concas, Maria Pina, Connell, John, de Mutsert, Renée, de Silva, H. Janaka, de Vries, Paul S., Demirkan, Ayşe, Ding, Jingzhong, Eaton, Charles B., Faul, Jessica D., Friedlander, Yechiel, Gabriel, Kelley P., Ghanbari, Mohsen, Giulianini, Franco, Gu, Chi Charle, Gu, Dongfeng, Harris, Tamara B., He, Jiang, Heikkinen, Sami, Heng, Chew-Kiat, Hunt, Steven C., Ikram, M. Arfan, Jonas, Jost B., Koh, Woon-Puay, Komulainen, Pirjo, Krieger, Jose E., Kritchevsky, Stephen B., Kutalik, Zoltán, Kuusisto, Johanna, Langefeld, Carl D., Langenberg, Claudia, Launer, Lenore J., Leander, Karin, Lemaitre, Rozenn N., Lewis, Cora E., Liang, Jingjing, Alizadeh, Behrooz Z., Boezen, H. Marike, Franke, Lude, Navis, Gerjan, Rots, Marianne, Swertz, Morri, Wolffenbuttel, Bruce H. R., Wijmenga, Cisca, Liu, Jianjun, Mägi, Reedik, Manichaikul, Ani, Meitinger, Thoma, Metspalu, Andre, Milaneschi, Yuri, Mohlke, Karen L., Mosley, Thomas H., Murray, Alison D., Nalls, Mike A., Nang, Ei-Ei Khaing, Nelson, Christopher P., Nona, Sotoodehnia, Norris, Jill M., Nwuba, Chiamaka Vivian, O’Connell, Jeff, Palmer, Nicholette D., Papanicolau, George J., Pazoki, Raha, Pedersen, Nancy L., Peters, Annette, Peyser, Patricia A., Polasek, Ozren, Porteous, David J., Poveda, Alaitz, Raitakari, Olli T., Rich, Stephen S., Risch, Neil, Robinson, Jennifer G., Rose, Lynda M., Rudan, Igor, Schreiner, Pamela J., Scott, Robert A., Sidney, Stephen S., Sims, Mario, Smith, Jennifer A., Snieder, Harold, Sofer, Tamar, Starr, John M., Sternfeld, Barbara, Strauch, Konstantin, Tang, Hua, Taylor, Kent D., Tsai, Michael Y., Tuomilehto, Jaakko, Uitterlinden, André G., van der Ende, M. Yldau, van Heemst, Diana, Voortman, Trudy, Waldenberger, Melanie, Wennberg, Patrik, Wilson, Gregory, Xiang, Yong-Bing, Yao, Jie, Yu, Caizheng, Yuan, Jian-Min, Zhao, Wei, Zonderman, Alan B., Becker, Diane M., Boehnke, Michael, Bowden, Donald W., de Faire, Ulf, Deary, Ian J., Elliott, Paul, Esko, Tõnu, Freedman, Barry I., Froguel, Philippe, Gasparini, Paolo, Gieger, Christian, Kato, Norihiro, Laakso, Markku, Lakka, Timo A., Lehtimäki, Terho, Magnusson, Patrik K. E., Oldehinkel, Albertine J., Penninx, Brenda W. J. H., Samani, Nilesh J., Shu, Xiao-Ou, van der Harst, Pim, Van Vliet-Ostaptchouk, Jana V., Vollenweider, Peter, Wagenknecht, Lynne E., Wang, Ya X., Wareham, Nicholas J., Weir, David R., Wu, Tangchun, Zheng, Wei, Zhu, Xiaofeng, Evans, Michele K., Franks, Paul W., Gudnason, Vilmundur, Hayward, Caroline, Horta, Bernardo L., Kelly, Tanika N., Liu, Yongmei, North, Kari E., Pereira, Alexandre C., Ridker, Paul M., Tai, E. Shyong, van Dam, Rob M., Fox, Ervin R., Kardia, Sharon L. R., Liu, Ching-Ti, Mook-Kanamori, Dennis O., Province, Michael A., Redline, Susan, van Duijn, Cornelia M., Rotter, Jerome I., Kooperberg, Charles B., Gauderman, W. Jame, Psaty, Bruce M., Rice, Kenneth, Munroe, Patricia B., Fornage, Myriam, Cupples, L. Adrienne, Rotimi, Charles N., Morrison, Alanna C., Rao, Dabeeru C., Loos, Ruth J. F., Bentley, Amy R [0000-0002-0827-9101], Jakupović, Hermina [0000-0001-9667-9406], Manning, Alisa [0000-0003-0247-902X], Aschard, Hugues [0000-0003-0907-2548], de Las Fuentes, Lisa [0000-0002-4689-325X], Richard, Melissa [0000-0003-0129-9860], Liu, Ching-Ti [0000-0002-0703-0742], Rice, Kenneth [0000-0002-3071-7278], Munroe, Patricia B [0000-0002-4176-2947], Loos, Ruth JF [0000-0002-8532-5087], Apollo - University of Cambridge Repository, Epidemiology, Radiology & Nuclear Medicine, Erasmus MC other, Internal Medicine, Læknadeild (HÍ), Faculty of Medicine (UI), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland, IT University of Copenhagen (ITU), Universiteit Leiden, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Life Course Epidemiology (LCE), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Groningen Research Institute for Asthma and COPD (GRIAC), Lifestyle Medicine (LM), Groningen Kidney Center (GKC), Value, Affordability and Sustainability (VALUE), Damage and Repair in Cancer Development and Cancer Treatment (DARE), Restoring Organ Function by Means of Regenerative Medicine (REGENERATE), Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Cardiovascular Centre (CVC), Center for Liver, Digestive and Metabolic Diseases (CLDM), Stem Cell Aging Leukemia and Lymphoma (SALL), Real World Studies in PharmacoEpidemiology, -Genetics, -Economics and -Therapy (PEGET), Lifelines Cohort Study, Alizadeh, B.Z., Boezen, H.M., Franke, L., Navis, G., Rots, M., Swertz, M., Wolffenbuttel, BHR, Wijmenga, C.
المصدر: Nature Communications, 10(1):376. Nature Publishing Group
Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
Nature Communications
Nature Communications, Nature Publishing Group, 2019, 10 (1), pp.376. ⟨10.1038/s41467-018-08008-w⟩
Kilpeläinen, T O, Bentley, A R & Loos, R J F 2019, ' Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity ', Nature Communications, vol. 10, no. 1, 376 . https://doi.org/10.1038/s41467-018-08008-wTest
Kilpeläinen, T O, Bentley, A R, Noordam, R, Sung, Y J, Schwander, K, Winkler, T W, Jakupović, H, Chasman, D I, Manning, A, Ntalla, I, Aschard, H, Brown, M R, de las Fuentes, L, Franceschini, N, Guo, X, Vojinovic, D, Aslibekyan, S, Feitosa, M F, Kho, M, Musani, S K, Richard, M, Wang, H, Wang, Z, Bartz, T M, Bielak, L F, Campbell, A, Dorajoo, R, Fisher, V, Hartwig, F P, Horimoto, A R V R, Li, C, Lohman, K K, Marten, J, Sim, X, Smith, A V, Tajuddin, S M, Alver, M, Amini, M, Boissel, M, Chai, J F, Chen, X, Divers, J, Evangelou, E, Gao, C, Graff, M, Harris, S E, He, M, Hsu, F C, Zhao, J H, Loos, R J F, LifeLines Cohort Study & V Varga, T 2019, ' Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity ', Nature Communications, vol. 10, 376 . https://doi.org/10.1038/s41467-018-08008-wTest
Kilpeläinen, T O, Bentley, A R, Noordam, R, Sung, Y J, Schwander, K, Winkler, T W, Jakupović, H, Chasman, D I, Manning, A, Ntalla, I, Aschard, H, Brown, M R, de las Fuentes, L, Franceschini, N, Guo, X, Vojinovic, D, Aslibekyan, S, Feitosa, M F, Kho, M, Musani, S K, Richard, M, Wang, H, Wang, Z, Bartz, T M, Bielak, L F, Campbell, A, Dorajoo, R, Fisher, V, Hartwig, F P, Horimoto, A R V R, Li, C, Lohman, K K, Marten, J, Sim, X, Smith, A V, Tajuddin, S M, Alver, M, Amini, M, Boissel, M, Chai, J F, Chen, X, Divers, J, Evangelou, E, Gao, C, Graff, M, Harris, S E, He, M, Milaneschi, Y, Yuan, J-M, Penninx, B W J H, Lifelines Cohort Study, Weir, D R, Franks, P W, Rotter, J I, Kooperberg, C B, Gauderman, W J, Psaty, B M, Rice, K M, Munroe, P B, Fornage, M, Cupples, L A, Rotimi, C N, Morrison, A C, Rao, D C & Loos, R J F 2019, ' Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity ', Nature Communications, vol. 10, no. 1, 376 . https://doi.org/10.1038/s41467-018-08008-wTest
Nature Communications, 10
Nature Communications, 10:376. Nature Publishing Group
Nature Communications, 2019, 10 (1), pp.376. ⟨10.1038/s41467-018-08008-w⟩
Nat. Commun. 10:376 (2019)
Nature communications, vol. 10, no. 1, pp. 376مصطلحات موضوعية: Genetics and Molecular Biology (all), Male, Genome-wide association study, 02 engineering and technology, Biochemistry, MESH: Genotype, MESH: Nerve Tissue Proteins, lcsh:Science, MESH: Lipid Metabolism, Aged, 80 and over, [STAT.AP]Statistics [stat]/Applications [stat.AP], MESH: Middle Aged, MESH: Asian Continental Ancestry Group, Kólesteról, Hispanic or Latino, MESH: Transcription Factors, MESH: European Continental Ancestry Group, Lipids, ddc, 3. Good health, REVEAL, Cholesterol, MESH: Young Adult, Science & Technology - Other Topics, MESH: Membrane Proteins, MESH: Cholesterol, HDL, Hispanic Americans, 0210 nano-technology, Erfðarannsóknir, MESH: Cholesterol, LDL, MESH: Triglycerides, Genotype, Genetic Loci, Lipid Metabolism, Science, European Continental Ancestry Group, LIM-Homeodomain Proteins, Locus (genetics), EXERCISE, Adolescent, Adult, African Continental Ancestry Group/genetics, Aged, Asian Continental Ancestry Group/genetics, Brazil, Calcium-Binding Proteins/genetics, Cholesterol/blood, Cholesterol, HDL/blood, Cholesterol, HDL/genetics, Cholesterol, LDL/blood, Cholesterol, LDL/genetics, European Continental Ancestry Group/genetics, Exercise, Female, Genetic Loci/genetics, Genome-Wide Association Study, Hispanic Americans/genetics, Humans, LIM-Homeodomain Proteins/genetics, Lipid Metabolism/genetics, Lipids/blood, Lipids/genetics, Membrane Proteins/genetics, Microtubule-Associated Proteins/genetics, Middle Aged, Muscle Proteins/genetics, Nerve Tissue Proteins/genetics, Transcription Factors/genetics, Triglycerides/blood, Triglycerides/genetics, Young Adult, General Biochemistry, Genetics and Molecular Biology, Article, White People, CARBOXYLASE, 03 medical and health sciences, Physics and Astronomy (all), MESH: Muscle Proteins, Asian People, Lifelines Cohort Study, SNP, METAANALYSIS, Ancestry, MESH: Adolescent, Biochemistry, Genetics and Molecular Biology (all), MESH: Humans, Science & Technology, Calcium-Binding Proteins, MESH: Adult, MESH: Microtubule-Associated Proteins, 030104 developmental biology, chemistry, MESH: Genome-Wide Association Study, lcsh:Q, MESH: African Continental Ancestry Group, Chemistry (all), [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], MESH: Brazil, MESH: Female, Transcription Factors, 0301 basic medicine, General Physics and Astronomy, Blood lipids, Muscle Proteins, MESH: Calcium-Binding Proteins, chemistry.chemical_compound, MESH: Aged, 80 and over, MESH: Cholesterol, WIDE ASSOCIATION, African Continental Ancestry Group, Genetics, MESH: Aged, Multidisciplinary, Public Health, Global Health, Social Medicine and Epidemiology, 021001 nanoscience & nanotechnology, Multidisciplinary Sciences, lipids (amino acids, peptides, and proteins), Medical Genetics, [STAT.ME]Statistics [stat]/Methodology [stat.ME], Microtubule-Associated Proteins, Asian Continental Ancestry Group, Black People, Nerve Tissue Proteins, Biology, MESH: Genetic Loci, MD Multidisciplinary, Triglycerides, Medicinsk genetik, MESH: LIM-Homeodomain Proteins, Triglyceride, MESH: Hispanic Americans, Cholesterol, HDL, Genome-wide analyses, Membrane Proteins, Lipid metabolism, General Chemistry, Cholesterol, LDL, Arfgengi, MESH: Lipids, MESH: Male, Folkhälsovetenskap, global hälsa, socialmedicin och epidemiologi, INDIVIDUALS, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Exercise, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie
وصف الملف: application/pdf; ELETTRONICO
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0762057e28a365b8dbed4f0bf77d1b25Test
http://hdl.handle.net/10044/1/66702Test -
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المؤلفون: Maria Nicla Loviglio, Thomas Arbogast, Aia Elise Jønch, Stephan C. Collins, Konstantin Popadin, Camille S. Bonnet, Giuliana Giannuzzi, Anne M. Maillard, Sébastien Jacquemont, Binnaz Yalcin, Nicholas Katsanis, Christelle Golzio, Alexandre Reymond, Christina Fagerberg, Charlotte Brasch Andersen, Martine Doco-Fenzy, Marie-Ange Delrue, Laurence Faivre, Benoit Arveiler, David Geneviève, Anouck Schneider, Marion Gerard, Joris Andrieux, Salima El Chehadeh, Elise Schaefer, Christel Depienne, Mieke Van Haelst, Eva H. Brilstra, Ellen Van Binsbergen, Jeske van Harssel, Lars T. van der Veken, James F. Gusella, Yiping Shen, Elyse Mitchell, Usha Kini, Lara Hawkes, Carolyn Campbell, Florence Niel Butschi, Marie-Claude Addor, Jacques S. Beckmann
المساهمون: Université de Lausanne = University of Lausanne (UNIL), Duke University [Durham], Lausanne University Hospital, Centre for Integrative Biology - CBI (Inserm U964 - CNRS UMR7104 - IGBMC), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Immanuel Kant Baltic Federal University (IKBFU), Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), 16p11.2 Consortium: Maria Nicla Loviglio, Aia Elise Jønch, Konstantin Popadin, Giuliana Giannuzzi, Anne M Maillard, Christina Fagerberg, Charlotte Brasch Andersen, Martine Doco-Fenzy, Marie-Ange Delrue, Laurence Faivre, Benoit Arveiler, David Geneviève, Anouck Schneider, Marion Gerard, Joris Andrieux, Salima El Chehadeh, Elise Schaefer, Christel Depienne, Mieke Van Haelst, Eva H Brilstra, Ellen Van Binsbergen, Jeske van Harssel, Lars T van der Veken, James F Gusella, Yiping Shen, Elyse Mitchell, Usha Kini, Lara Hawkes, Carolyn Campbell, Florence Niel Butschi, Marie-Claude Addor, Jacques S Beckmann, Sébastien Jacquemont, Alexandre Reymond., Dupuis, Christine, Amsterdam Reproduction & Development (AR&D), Human genetics, Amsterdam Neuroscience - Complex Trait Genetics
المصدر: American Journal of Human Genetics, 101(4), 564. Cell Press
16p11.2 Consortium 2017, ' The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs ', American Journal of Human Genetics, vol. 101, no. 4, pp. 564-577 . https://doi.org/10.1016/j.ajhg.2017.08.016Test
Loviglio, M N, Arbogast, T, Jønch, A E, Collins, S C, Popadin, K, Bonnet, C S, Giannuzzi, G, Maillard, A M, Jacquemont, S & 16p11.2 Consortium 2017, ' The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs ', American journal of human genetics, vol. 101, no. 4, pp. 564-577 . https://doi.org/10.1016/j.ajhg.2017.08.016Test
American Journal of Human Genetics
American Journal of Human Genetics, 2017, 101, pp.564-577. ⟨10.1016/j.ajhg.2017.08.016⟩
American journal of human genetics, 101(4), 564-577. Cell Pressمصطلحات موضوعية: Male, 0301 basic medicine, epistasis, Microcephaly, obesity, Embryo, Nonmammalian, Phosphoproteins/physiology, MAPK3, [SDV]Life Sciences [q-bio], Chromosome Disorders, Adaptor Proteins, Signal Transducing/genetics, zebrafish, Cohort Studies, Microcephaly/genetics, Mice, 0302 clinical medicine, Chromosome Disorders/genetics, Gene duplication, Genetics(clinical), Child, Zebrafish, Genetics (clinical), Aged, 80 and over, Mice, Knockout, Genetics, ZAP70, Brain, Gene Expression Regulation, Developmental, head size, Middle Aged, 16p11.2, Phenotype, Chromatin, [SDV] Life Sciences [q-bio], Child, Preschool, Knockout mouse, Female, Chromosomes, Human, Pair 16/genetics, Chromosome Deletion, Autistic Disorder/genetics, Signal Transduction, Adult, DNA Copy Number Variations, Adolescent, autism, Biology, Article, Young Adult, 03 medical and health sciences, Intellectual Disability, Zebrafish Proteins/genetics, medicine, Humans, Animals, Brain/metabolism, Autistic Disorder, Membrane Proteins/genetics, Adaptor Proteins, Signal Transducing, Aged, genome architecture, Membrane Proteins, Infant, Zebrafish Proteins, Phosphoproteins, medicine.disease, biology.organism_classification, Intellectual Disability/genetics, Mice, Inbred C57BL, 030104 developmental biology, Zebrafish/embryology, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery, Embryo, Nonmammalian/metabolism
وصف الملف: image/pdf; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebaf471f9fd4279d6c31620bc28af05eTest
https://dspace.library.uu.nl/handle/1874/362409Test -
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المؤلفون: Ane Simony, Malene R. Andersen, Søren T. Christensen, Karen Koefoed, Klaus W. Kjaer, Lars Allan Larsen, Muhammad Farooq
المصدر: Andersen, M R, Farooq, M, Koefoed, K, Kjaer, K W, Simony, A, Christensen, S T & Larsen, L A 2017, ' Mutation of the planar cell polarity gene VANGL1 in adolescent idiopathic scoliosis ', Spine, vol. 42, no. 12, pp. E702-E707 . https://doi.org/10.1097/BRS.0000000000001927Test
مصطلحات موضوعية: 0301 basic medicine, Adult, Carrier Proteins/genetics, Heterozygote, VANGL1, mutation detection, Cell Polarity/genetics, Adolescent, Mutant, Population, adolescent ididopatic scoliosis, Mutation, Missense, Scoliosis/genetics, Biology, medicine.disease_cause, disease gene, functional analysis, 03 medical and health sciences, 0302 clinical medicine, WNT signaling, medicine, Missense mutation, Humans, Orthopedics and Sports Medicine, genetics, Membrane Proteins/genetics, Wnt Signaling Pathway/genetics, education, Wnt Signaling Pathway, Gene, Cellular localization, Cells, Cultured, Aged, Genetics, Mutation, education.field_of_study, planar cell polarity signaling, missense mutation, Wnt signaling pathway, Cell Polarity, Membrane Proteins, 030104 developmental biology, Scoliosis, adolescent idiopathic scoliosis, Mutation testing, Neurology (clinical), Carrier Proteins, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::380c4e0663f23da9298756dcdbc0f687Test
https://portal.findresearcher.sdu.dk/da/publications/e80a9252-81eb-4b0d-91b6-c592ac8ad692Test -
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المؤلفون: Emmi Tikkanen, Pascal Guénel, Rico Rueedi, Hamdi Mbarek, Gerardo Heiss, Hilary K. Finucane, Jing Hua Zhao, Peter K. Joshi, Mark I. McCarthy, Frank B. Hu, Stephen J. Chanock, Manjeet K. Bolla, Sandosh Padmanabhan, Vilmundur Gudnason, Chunyan He, Aarno Palotie, Reedik Mägi, Joe Dennis, Nicholas G. Martin, Behrooz Z. Alizadeh, Elisabeth Widen, Caroline Hayward, Penelope A. Lind, Magdalena Zoledziewska, Ayellet V. Segrè, Fergus J. Couch, Massimo Mangino, Melissa C. Southey, Immaculata De Vivo, Yongmei Liu, Ute Hamann, Angela Cox, Maartje J. Hooning, Iffat Rahman, Mitul Shah, Eric Boerwinkle, Matthias W. Beckmann, Catharina A. Hartman, Tanguy Corre, Kathryn L. Lunetta, Thérèse Truong, Anna Marie Mulligan, Caterina Barbieri, Robert Winqvist, Lili Milani, Cristina Menni, Frits R. Rosendaal, Pau Navarro, Christian Gieger, Ken K. Ong, Stig E. Bojesen, Susan M. Ring, Marjanka K. Schmidt, George McMahon, Deborah J. Thompson, Robert Karlsson, Nicholas J. Timpson, M. Arfan Ikram, Alexander Teumer, Jingmei Li, Christa Meisinger, Diana L. Cousminer, Doris Stöckl, Heli Nevanlinna, Teresa Nutile, Tim D. Spector, Eva Albrecht, Murielle Bochud, Linda Broer, Felix R. Day, Sven Bergmann, Renée de Mutsert, Nicholas J. Wareham, Marjo-Riitta Järvelin, Marzyeh Amini, Elisabeth Altmaier, Isabel dos-Santos-Silva, Peter Vollenweider, Douglas F. Easton, Tamara B. Harris, Ellen A. Nohr, Paul D.P. Pharoah, David J. Porteous, Jenny A. Visser, Ilja M. Nolte, Genevieve Lachance, Thomas Meitinger, Archie Campbell, Thomas Brüning, Graham G. Giles, Johan G. Eriksson, Nancy L. Pedersen, George Davey Smith, Gonneke Willemsen, Joanne M. Murabito, Francesco Cucca, Daniel I. Chasman, Eleonora Porcu, Nora Franceschini, Thibaud Boutin, Ulla Sovio, Roger L. Milne, Annette Peters, Lisette Stolk, Paul M. Ridker, Claudia Langenberg, Patrick Sulem, Toshiko Tanaka, Marike Gabrielson, Judith S. Brand, Unnur Thorsteindottir, Alison M. Dunning, Marina Ciullo, Julie E. Buring, Harold Snieder, Lude Franke, Meir J. Stampfer, Po-Ru Loh, Julian Peto, Ellen W. Demerath, Sheila Ulivi, Ivana Kolcic, Maristella Steri, Jouke J. Hottenga, Amanda B. Spurdle, Tõnu Esko, Katherine S. Pollard, Eulalia Catamo, Anneli Pouta, Kyriaki Michailidou, Dieter Flesch-Janys, James F. Wilson, Kamila Czene, Sean Whalen, Diether Lambrechts, Abhishek Sarkar, Laura Crisponi, Jonathan Tyrer, Antonietta Robino, Sara Lindström, Harald Grallert, Stefania Lenarduzzi, Peter Kraft, Patrik K. E. Magnusson, Lavinia Paternoster, Digna R. Velez Edwards, Mike A. Nalls, Per Hall, Joyce Y. Tung, Cinzia Sala, Lindsay Fernández-Rhodes, Ayush Giri, Hiltrud Brauch, André G. Uitterlinden, Alkes L. Price, Tracy A. O'Mara, Lynda M. Rose, John L. Hopper, David A. Hinds, Katherine S. Ruth, Arto Mannermaa, Uwe Völker, Rossella Sorice, Zoltán Kutalik, Debbie A Lawlor, Georgia Chenevix-Trench, Anna Murray, Albertine J. Oldehinkel, Bruce H. R. Wolffenbuttel, Hae Kyung Im, Dale R. Nyholt, Lenore J. Launer, Andres Metspalu, Irene L. Andrulis, Konstantin Strauch, Albert V. Smith, Daniela Toniolo, Eco J. C. de Geus, Jenny Chang-Claude, Marek Zygmunt, Dorret I. Boomsma, Harry Campbell, Peter Devilee, Henry Völzke, Daniela Ruggiero, Dennis O. Mook-Kanamori, John R. B. Perry, Javier Benitez, Grant W. Montgomery, David J. Hunter, David Karasik, Luigi Ferrucci, Emily Hallberg, Stefania Bandinelli, Hermann Brenner, Raymond Noordam, Sarah E. Medland, Peter A. Fasching, Qin Wang, Ilaria Gandin, Manolis Kellis, Hannes Helgason, Igor Rudan, Paolo Radice, Michela Traglia, Jian'an Luan, Robert A. Scott, Brumat Marco, Veronique Vitart, Kari Stefansson, Katharina E. Schraut, Ko Willems van Dijk, Ozren Polasek, Daniel F. Gudbjartsson, Natalia Perjakova, Joop S.E. Laven
المساهمون: Life Course Epidemiology (LCE), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Lifestyle Medicine (LM), Center for Liver, Digestive and Metabolic Diseases (CLDM), Stem Cell Aging Leukemia and Lymphoma (SALL), Real World Studies in PharmacoEpidemiology, -Genetics, -Economics and -Therapy (PEGET), Biological Psychology, APH - Health Behaviors & Chronic Diseases, APH - Personalized Medicine, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, APH - Mental Health, APH - Methodology, Art and Culture, History, Antiquity, Day, Felix R., Thompson, Deborah J., Helgason, Hanne, Chasman, Daniel I., Finucane, Hilary, Sulem, Patrick, Ruth, Katherine S., Whalen, Sean, Sarkar, Abhishek K., Albrecht, Eva, Altmaier, Elisabeth, Amini, Marzyeh, Barbieri, CATERINA MARIA, Boutin, Thibaud, Campbell, Archie, Demerath, Ellen, Giri, Ayush, He, Chunyan, Hottenga, Jouke J., Karlsson, Robert, Kolcic, Ivana, Loh, Po Ru, Lunetta, Kathryn L., Mangino, Massimo, Brumat, Marco, Mcmahon, George, Medland, Sarah E., Nolte, Ilja M., Noordam, Raymond, Nutile, Teresa, Paternoster, Lavinia, Perjakova, Natalia, Porcu, Eleonora, Rose, Lynda M., Schraut, Katharina E., Segrã¨, Ayellet V., Smith, Albert V., Stolk, Lisette, Teumer, Alexander, Andrulis, Irene L., Bandinelli, Stefania, Beckmann, Matthias W., Benitez, Javier, Bergmann, Sven, Bochud, Murielle, Boerwinkle, Eric, Bojesen, Stig E., Bolla, Manjeet K., Brand, Judith S., Brauch, Hiltrud, Brenner, Hermann, Broer, Linda, Brã¼ning, Thoma, Buring, Julie E., Campbell, Harry, Catamo, Eulalia, Chanock, Stephen, Chenevix Trench, Georgia, Corre, Tanguy, Couch, Fergus J., Cousminer, Diana L., Cox, Angela, Crisponi, Laura, Czene, Kamila, Davey Smith, George, De Geus, Eco J. C. N., De Mutsert, Renã©e, De Vivo, Immaculata, Dennis, Joe, Devilee, Peter, Dos Santos Silva, Isabel, Dunning, Alison M., Eriksson, Johan G., Fasching, Peter A., Fernández Rhodes, Lindsay, Ferrucci, Luigi, Flesch Janys, Dieter, Franke, Lude, Gabrielson, Marike, Gandin, Ilaria, Giles, Graham G., Grallert, Harald, Gudbjartsson, Daniel F., Guã©nel, Pascal, Hall, Per, Hallberg, Emily, Hamann, Ute, Harris, Tamara B., Hartman, Catharina A., Heiss, Gerardo, Hooning, Maartje J., Hopper, John L., Hu, Frank, Hunter, David J., Ikram, M. Arfan, Im, Hae Kyung, Jã¤rvelin, Marjo Riitta, Joshi, Peter K., Karasik, David, Kellis, Manoli, Kutalik, Zoltan, Lachance, Genevieve, Lambrechts, Diether, Langenberg, Claudia, Launer, Lenore J., Laven, Joop S. E., Lenarduzzi, Stefania, Li, Jingmei, Lind, Penelope A., Lindstrom, Sara, Liu, Yongmei, Luan, Jian'An, Mã¤gi, Reedik, Mannermaa, Arto, Mbarek, Hamdi, Mccarthy, Mark I., Meisinger, Christa, Meitinger, Thoma, Menni, Cristina, Metspalu, Andre, Michailidou, Kyriaki, Milani, Lili, Milne, Roger L., Montgomery, Grant W., Mulligan, Anna M., Nalls, Mike A., Navarro, Pau, Nevanlinna, Heli, Nyholt, Dale R., Oldehinkel, Albertine J., O'Mara, Tracy A., Padmanabhan, Sandosh, Palotie, Aarno, Pedersen, Nancy, Peters, Annette, Peto, Julian, Pharoah, Paul D. P., Pouta, Anneli, Radice, Paolo, Rahman, Iffat, Ring, Susan M., Robino, Antonietta, Rosendaal, Frits R., Rudan, Igor, Rueedi, Rico, Ruggiero, Daniela, Sala, Cinzia F., Schmidt, Marjanka K., Scott, Robert A., Shah, Mitul, Sorice, Rossella, Southey, Melissa C., Sovio, Ulla, Stampfer, Meir, Steri, Maristella, Strauch, Konstantin, Tanaka, Toshiko, Tikkanen, Emmi, Timpson, Nicholas J., Traglia, Michela, Truong, Thã©rã¨se, Tyrer, Jonathan P., Uitterlinden, André G., Edwards, Digna R. Velez, Vitart, Veronique, Vã¶lker, Uwe, Vollenweider, Peter, Wang, Qin, Widen, Elisabeth, Van Dijk, Ko Willem, Willemsen, Gonneke, Winqvist, Robert, Wolffenbuttel, Bruce H. R., Zhao, Jing Hua, Zoledziewska, Magdalena, Zygmunt, Marek, Alizadeh, Behrooz Z., Boomsma, Dorret I., Ciullo, Marina, Cucca, Francesco, Esko, Tãµnu, Franceschini, Nora, Gieger, Christian, Gudnason, Vilmundur, Hayward, Caroline, Kraft, Peter, Lawlor, Debbie A., Magnusson, Patrik K. E., Martin, Nicholas G., Mook Kanamori, Dennis O., Nohr, Ellen A., Polasek, Ozren, Porteous, David, Price, Alkes L., Ridker, Paul M., Snieder, Harold, Spector, Tim D., Stã¶ckl, Dori, Toniolo, Daniela, Ulivi, Sheila, Visser, Jenny A., Vã¶lzke, Henry, Wareham, Nicholas J., Wilson, James F., LifeLines Cohort, Study, Interact, Consortium, Kconfab/aocs, Investigator, Endometrial Cancer Association, Consortium, Ovarian Cancer Association, Consortium, Practical, Consortium, Spurdle, Amanda B., Thorsteindottir, Unnur, Pollard, Katherine S., Easton, Douglas F., Tung, Joyce Y., Chang Claude, Jenny, Hinds, David, Murray, Anna, Murabito, Joanne M., Stefansson, Kari, Ong, Ken K., Perry, John R. B., Internal Medicine, Erasmus MC other, Medical Oncology, Epidemiology, Obstetrics & Gynecology, Day, Felix [0000-0003-3789-7651], Thompson, Deborah [0000-0003-1465-5799], Dennis, Joe [0000-0003-4591-1214], Dunning, Alison [0000-0001-6651-7166], Langenberg, Claudia [0000-0002-5017-7344], Luan, Jian'an [0000-0003-3137-6337], Pharoah, Paul [0000-0001-8494-732X], Sovio, Ulla [0000-0002-0799-1105], Tyrer, Jonathan [0000-0003-3724-4757], Zhao, Jing Hua [0000-0003-4930-3582], Wareham, Nicholas [0000-0003-1422-2993], Easton, Douglas [0000-0003-2444-3247], Ong, Kenneth [0000-0003-4689-7530], Perry, John [0000-0001-6483-3771], Apollo - University of Cambridge Repository, Massachusetts Institute of Technology. Department of Mathematics, Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory
المصدر: Nature Genetics
Nature Genetics, 49(6), 834-841. Nature Publishing Group
Nature Genetics, 49(6), 834
Nature Genetics, 49(6), 834-+. Nature Publishing Group
PMC
Day, F R, Thompson, D J, Helgason, H, Chasman, D I, Finucane, H, Sulem, P, Ruth, K S, Whalen, S, Sarkar, A K, Albrecht, E, Altmaier, E, Amini, M, Barbieri, C M, Boutin, T, Campbell, A, Demerath, E, Giri, A, He, C, Hottenga, J J, Karlsson, R, Kolcic, I, Loh, P-R, Lunetta, K L, Mangino, M, Marco, B, McMahon, G, Medland, S E, Nolte, I M, Noordam, R, Nutile, T, Paternoster, L, Perjakova, N, Porcu, E, Rose, L M, Schraut, K E, Segrè, A V, Smith, A V, Stolk, L, Teumer, A, Andrulis, I L, Bandinelli, S, Beckmann, M W, Benitez, J, Bergmann, S, Bochud, M, Boerwinkle, E, Bojesen, S E, Bolla, M K, Brand, J S, Nohr, E A & Lifelines Cohort Study 2017, ' Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk ', Nature Genetics, vol. 49, no. 6, pp. 834–841 . https://doi.org/10.1038/ng.3841Test
Day, F R, Thompson, D J, Helgason, H, Chasman, D I, Finucane, H, Sulem, P, Ruth, K S, Whalen, S, Sarkar, A K, Albrecht, E, Altmaier, E, Amini, M, Barbieri, C M, Boutin, T, Campbell, A, Demerath, E, Giri, A, He, C, Hottenga, J J, Karlsson, R, Kolcic, I, Loh, P-R, Lunetta, K L, Mangino, M, Marco, B, McMahon, G, Medland, S E, Nolte, I M, Noordam, R, Nutile, T, Paternoster, L, Perjakova, N, Porcu, E, Rose, L M, Schraut, K E, Segrè, A V, Smith, A V, Stolk, L, Teumer, A, Andrulis, I L, Bandinelli, S, Beckmann, M W, Benitez, J, Bergmann, S, Bochud, M, de Geus, E J C N, Mbarek, H, Willemsen, G, Boomsma, D I, Visser, J A & LifeLines Cohort Study 2017, ' Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk ', Nature Genetics, vol. 49, no. 6, pp. 834-841 . https://doi.org/10.1038/ng.3841Test
Day, FR; Thompson, DJ; Helgason, H; Chasman, DI; Finucane, H; Sulem, P; et al.(2017). Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk. NATURE GENETICS, 49(6), 834-+. doi: 10.1038/ng.3841. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/8gn0n3qqTest
Day, F R, Thompson, D J, Helgason, H, Chasman, D I, Finucane, H, Sulem, P, Ruth, K S, Whalen, S, Sarkar, A K, Albrecht, E, Altmaier, E, Amini, M, Barbieri, C M, Boutin, T, Campbell, A, Demerath, E, Giri, A, He, C, Hottenga, J J, Karlsson, R, Kolcic, I, Loh, P, Lunetta, K L, Mangino, M, Marco, B, Mcmahon, G, Medland, S E, Nolte, I M, Noordam, R, Nutile, T, Paternoster, L, Perjakova, N, Porcu, E, Rose, L M, Schraut, K E, Segrè, A V, Smith, A V, Stolk, L, Teumer, A, Andrulis, I L, Bandinelli, S, Beckmann, M W, Benitez, J, Bergmann, S, Bochud, M, Boerwinkle, E, Bojesen, S E, Bolla, M K, Brand, J S, Brauch, H, Brenner, H, Broer, L, Brüning, T, Buring, J E, Campbell, H, Catamo, E, Chanock, S, Chenevix-trench, G, Corre, T, Couch, F J, Cousminer, D L, Cox, A, Crisponi, L, Czene, K, Davey Smith, G, De Geus, E J C N, De Mutsert, R, De Vivo, I, Dennis, J, Devilee, P, Dos-santos-silva, I, Dunning, A M, Eriksson, J G, Fasching, P A, Fernández-rhodes, L, Ferrucci, L, Flesch-janys, D, Franke, L, Gabrielson, M, Gandin, I, Giles, G G, Grallert, H, Gudbjartsson, D F, Guénel, P, Hall, P, Hallberg, E, Hamann, U, Harris, T B, Hartman, C A, Heiss, G, Hooning, M J, Hopper, J L, Hu, F, Hunter, D J, Ikram, M A, Im, H K, Järvelin, M, Joshi, P K, Karasik, D, Kellis, M, Kutalik, Z, Lachance, G, Lambrechts, D, Langenberg, C, Launer, L J, Laven, J S E, Lenarduzzi, S, Li, J, Lind, P A, Lindstrom, S, Liu, Y, Luan, J, Mägi, R, Mannermaa, A, Mbarek, H, Mccarthy, M I, Meisinger, C, Meitinger, T, Menni, C, Metspalu, A, Michailidou, K, Milani, L, Milne, R L, Montgomery, G W, Mulligan, A M, Nalls, M A, Navarro, P, Nevanlinna, H, Nyholt, D R, Oldehinkel, A J, O'mara, T A, Padmanabhan, S, Palotie, A, Pedersen, N, Peters, A, Peto, J, Pharoah, P D P, Pouta, A, Radice, P, Rahman, I, Ring, S M, Robino, A, Rosendaal, F R, Rudan, I, Rueedi, R, Ruggiero, D, Sala, C F, Schmidt, M K, Scott, R A, Shah, M, Sorice, R, Southey, M C, Sovio, U, Stampfer, M, Steri, M, Strauch, K, Tanaka, T, Tikkanen, E, Timpson, N J, Traglia, M, Truong, T, Tyrer, J P, Uitterlinden, A G, Edwards, D R V, Vitart, V, Völker, U, Vollenweider, P, Wang, Q, Widen, E, Van Dijk, K W, Willemsen, G, Winqvist, R, Wolffenbuttel, B H R, Zhao, J H, Zoledziewska, M, Zygmunt, M, Alizadeh, B Z, Boomsma, D I, Ciullo, M, Cucca, F, Esko, T, Franceschini, N, Gieger, C, Gudnason, V, Hayward, C, Kraft, P, Lawlor, D A, Magnusson, P K E, Martin, N G, Mook-kanamori, D O, Nohr, E A, Polasek, O, Porteous, D, Price, A L, Ridker, P M, Snieder, H, Spector, T D, Stöckl, D, Toniolo, D, Ulivi, S, Visser, J A, Völzke, H, Wareham, N J, Wilson, J F, Spurdle, A B, Thorsteindottir, U, Pollard, K S, Easton, D F, Tung, J Y, Chang-claude, J, Hinds, D, Murray, A, Murabito, J M, Stefansson, K, Ong, K K & Perry, J R B 2017, ' Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk ', Nature Genetics, vol. 49, pp. 834-841 . https://doi.org/10.1038/ng.3841Test
Day, F R, et al. & Perry, J R B 2017, ' Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk ', Nature Genetics, vol. 49, no. 6, pp. 834-841 . https://doi.org/10.1038/ng.3841Test
Nature genetics
49 (2017): 834–841. doi:10.1038/ng.3841
info:cnr-pdr/source/autori:Day F.R.; Thompson D.J.; Helgason H.; Chasman D.I.; Finucane H.; Sulem P.; Ruth K.S.; Whalen S.; Sarkar A.K.; Albrecht E.; Altmaier E.; Amini M.; Barbieri C.M.; Boutin T.; Campbell A.; Demerath E.; Giri A.; He C.; Hottenga J.J.; Karlsson R.; Kolcic I.; Loh P.-R.; Lunetta K.L.; Mangino M.; Marco B.; McMahon G.; Medland S.E.; Nolte I.M.; Noordam R.; Nutile T.; Paternoster L.; Perjakova N.; Porcu E.; Rose L.M.; Schraut K.E.; Segre A.V.; Smith A.V.; Stolk L.; Teumer A.; Andrulis I.L.; Bandinelli S.; Beckmann M.W.; Benitez J.; Bergmann S.; Bochud M.; Boerwinkle E.; Bojesen S.E.; Bolla M.K.; Brand J.S.; Brauch H.; Brenner H.; Broer L.; Bruning T.; Buring J.E.; Campbell H.; Catamo E.; Chanock S.; Chenevix-Trench G.; Corre T.; Couch F.J.; Cousminer D.L.; Cox A.; Crisponi L.; Czene K.; Davey Smith G.; De Geus E.J.C.N.; De Mutsert R.; De Vivo I.; Dennis J.; Devilee P.; Dos-Santos-Silva I.; Dunning A.M.; Eriksson J.G.; Fasching P.A.; Fernandez-Rhodes L.; Ferrucci L.; Flesch-Janys D.; Franke L.; Gabrielson M.; Gandin I.; Giles G.G.; Grallert H.; Gudbjartsson D.F.; Guenel P.; Hall P.; Hallberg E.; Hamann U.; Harris T.B.; Hartman C.A.; Heiss G.; Hooning M.J.; Hopper J.L.; Hu F.; Hunter D.J.; Ikram M.A.; Im H.K.; Jarvelin M.-R.; Joshi P.K.; Karasik D.; Kellis M.; Kutalik Z.; Lachance G.; Lambrechts D.; Langenberg C.; Launer L.J.; Laven J.S.E.; Lenarduzzi S.; Li J.; Lind P.A.; Lindstrom S.; Liu Y.; Luan J.; Magi R.; Mannermaa A.; Mbarek H.; McCarthy M.I.; Meisinger C.; Meitinger T.; Menni C.; Metspalu A.; Michailidou K.; Milani L.; Milne R.L.; Montgomery G.W.; Mulligan A.M.; Nalls M.A.; Navarro P.; Nevanlinna H.; Nyholt D.R.; Oldehinkel A.J.; O'Mara T.A.; Padmanabhan S.; Palotie A.; Pedersen N.; Peters A.; Peto J.; Pharoah P.D.P.; Pouta A.; Radice P.; Rahman I.; Ring S.M.; Robino A.; Rosendaal F.R.; Rudan I.; Rueedi R.; Ruggiero D.; Sala C.F.; Schmidt M.K.; Scott R.A.; Shah M.; Sorice R.; Southey M.C.; Sovio U.; Stampfer M.; Steri M.; Strauch K.; Tanaka T.; Tikkanen E.; Timpson N.J.; Traglia M.; Truong T.; Tyrer J.P.; Uitterlinden A.G.; Edwards D.R.V.; Vitart V.; Volker U.; Vollenweider P.; Wang Q.; Widen E.; Van Dijk K.W.; Willemsen G.; Winqvist R.; Wolffenbuttel B.H.R.; Zhao J.H.; Zoledziewska M.; Zygmunt M.; Alizadeh B.Z.; Boomsma D.I.; Ciullo M.; Cucca F.; Esko T.; Franceschini N.; Gieger C.; Gudnason V.; Hayward C.; Kraft P.; Lawlor D.A.; Magnusson P.K.E.; Martin N.G.; Mook-Kanamori D.O.; Nohr E.A.; Polasek O.; Porteous D.; Price A.L.; Ridker P.M.; Snieder H.; Spector T.D.; Stockl D.; Toniolo D.; Ulivi S.; Visser J.A.; Volzke H.; Wareham N.J.; Wilson J.F.; Spurdle A.B.; Thorsteindottir U.; Pollard K.S.; Easton D.F.; Tung J.Y.; Chang-Claude J.; Hinds D.; Murray A.; Murabito J.M.; Stefansson K.; Ong K.K.; Perry J.R.B./titolo:Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk/doi:10.1038%2Fng.3841/rivista:Nature genetics (Print)/anno:2017/pagina_da:834/pagina_a:841/intervallo_pagine:834–841/volume:49مصطلحات موضوعية: 0301 basic medicine, Male, Netherlands Twin Register (NTR), Ovarian Cancer Association Consortium, LOCI, Genome-wide association study, cancer risk, Menarche/genetics, Bioinformatics, GWAS, menarche, puberty, Body Mass Index, Risk Factors, Neoplasms, Databases, Genetic, WIDE ASSOCIATION, Endometrial Cancer Association Consortium, Ribonucleoproteins/genetics, 2. Zero hunger, Genetics, Age Factors, Genetics GWAS menarche, reproductive disorders, Neoplasms/genetics, 3. Good health, Ribonucleoproteins, Menarche, MENDELIAN RANDOMIZATION, Intercellular Signaling Peptides and Proteins, GROWTH, Female, TRAITS, Population variance, Intercellular Signaling Peptides and Proteins/genetics, Adolescent, Ubiquitin-Protein Ligases, kConFab/AOCS Investigators, Quantitative Trait Loci, Quantitative trait locus, Biology, METABOLISM, INHERITANCE, Polymorphism, Single Nucleotide, PRACTICAL consortium, 03 medical and health sciences, Genomic Imprinting, SDG 3 - Good Health and Well-being, Mendelian randomization, REGRESSION, medicine, Journal Article, Humans, cancer, Genetic Predisposition to Disease, 1000 Genomes Project, Membrane Proteins/genetics, METAANALYSIS, Puberty, Calcium-Binding Proteins, Membrane Proteins, Cancer, InterAct Consortium, Heritability, medicine.disease, BODY-MASS INDEX, 030104 developmental biology, genome-wide association studies, Puberty/genetics, LifeLines Cohort Study, Genome-Wide Association Study
وصف الملف: application/pdf; STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba4662b9373d751ace980e5bcc9dbbf2Test
https://www.bib.irb.hr/872815Test -
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المؤلفون: Ies J Nijman, Wigard P. Kloosterman, Mark van Roosmalen, Magdalena Harakalova, Rachel H. Giles, Carolien G.F. de Kovel, Gijs van Haaften, Karen Duran, Nine V A M Knoers, Hester Y. Kroes, Bert van der Zwaag, Glen R. Monroe
المصدر: EJHG, 24(2), 214-220. Nature Publishing Group
European Journal of Human Geneticsمصطلحات موضوعية: 0301 basic medicine, Male, Signal Transducing/genetics, TMEM67, Adaptor Proteins, Signal Transducing/genetics, Bioinformatics, Cerebellum, Pathology, Eye Abnormalities, Pathology, Molecular, Child, Genetics (clinical), Genetics, Sanger sequencing, education.field_of_study, Cystic/diagnosis, Adaptor Proteins, High-Throughput Nucleotide Sequencing, Eye Abnormalities/diagnosis, Kidney Diseases, Cystic, Child, Preschool, Proteins/genetics, symbols, Kidney Diseases, Cerebellum/abnormalities, Female, Abnormalities, medicine.medical_specialty, Abnormalities, Multiple/diagnosis, Adolescent, Genotype, Population, Genetic Counseling, Consanguinity, Biology, CC2D2A, Retina, Article, Joubert syndrome, 03 medical and health sciences, symbols.namesake, Young Adult, Molecular genetics, medicine, Humans, Abnormalities, Multiple, Membrane Proteins/genetics, Preschool, education, Kidney Diseases, Cystic/diagnosis, Adaptor Proteins, Signal Transducing, Multiple/diagnosis, Genetic heterogeneity, Retina/abnormalities, Molecular, Membrane Proteins, Proteins, Infant, medicine.disease, Adaptor Proteins, Vesicular Transport, Cytoskeletal Proteins, 030104 developmental biology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efd11d8828c702d788ff0fb87ebf3437Test
https://research.rug.nl/en/publications/01daa816-81eb-4be5-a3b7-183021192272Test