نتائج البحث - "Membrane Proteins / genetics"

1

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

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 Genet

مصطلحات 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

2

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

المؤلفون: Florian R. T., Kraft F., Leitao E., Kaya S., Klebe S., Magnin E., van Rootselaar A. -F., Buratti J., Kuhnel T., Schroder C., Giesselmann S., Tschernoster N., Altmueller J., Lamiral A., Keren B., Nava C., Bouteiller D., Forlani S., Jornea L., Kubica R., Ye T., Plassard D., Jost B., Meyer V., Deleuze J. -F., Delpu Y., Avarello M. D. M., Vijfhuizen L. S., Rudolf G., Hirsch E., Kroes T., Reif P. S., Rosenow F., Ganos C., Vidailhet M., Thivard L., Mathieu A., Bourgeron T., Kurth I., Rafehi H., Steenpass L., Horsthemke B., Berkovic S. F., Bisulli F., Brancati F., Canafoglia L., Casari G., Guerrini R., Ishiura H., Licchetta L., Mei D., Pippucci T., Sadleir L., Scheffer I. E., Striano P., Tinuper P., Tsuji S., Zara F., LeGuern E., Klein K. M., Labauge P., Bennett M. F., Bahlo M., Gecz J., Corbett M. A., Tijssen M. A. J., van den Maagdenberg A. M. J. M., Depienne C.

المساهمون: Florian, R. T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., van Rootselaar, A. -F., Buratti, J., Kuhnel, T., Schroder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., Lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L., Kubica, R., Ye, T., Plassard, D., Jost, B., Meyer, V., Deleuze, J. -F., Delpu, Y., Avarello, M. D. M., Vijfhuizen, L. S., Rudolf, G., Hirsch, E., Kroes, T., Reif, P. S., Rosenow, F., Ganos, C., Vidailhet, M., Thivard, L., Mathieu, A., Bourgeron, T., Kurth, I., Rafehi, H., Steenpass, L., Horsthemke, B., Berkovic, S. F., Bisulli, F., Brancati, F., Canafoglia, L., Casari, G., Guerrini, R., Ishiura, H., Licchetta, L., Mei, D., Pippucci, T., Sadleir, L., Scheffer, I. E., Striano, P., Tinuper, P., Tsuji, S., Zara, F., Leguern, E., Klein, K. M., Labauge, P., Bennett, M. F., Bahlo, M., Gecz, J., Corbett, M. A., Tijssen, M. A. J., van den Maagdenberg, A. M. J. M., Depienne, C., Institute of Human Genetics - Institut für Humangenetik [Essen], Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen)-Universitat Duisberg-Essen, Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen), Universität Duisburg-Essen = University of Duisburg-Essen [Essen], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Academic Medical Center - Academisch Medisch Centrum [Amsterdam] (AMC), University of Amsterdam [Amsterdam] (UvA), Amsterdam Neuroscience [Pays-Bas], Vrije Universiteit Amsterdam [Amsterdam] (VU)-University of Amsterdam [Amsterdam] (UvA)-VU University Medical Center [Amsterdam], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre for Molecular Medicine Cologne [Cologne] (CMMC), University Hospital of Cologne [Cologne], Cologne Center for Genomics [Cologne] (CCG), University of Cologne, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), 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), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), genomic vision, Leiden University Medical Center (LUMC), Universiteit Leiden, Centre de référence des épilepsies rares [CHRU Strasbourg] (CRéER), Centre Hospitalier Régional Universitaire de Strasbourg (CHRU de Strasbourg), Service de Neurologie [Strasbourg], CHU Strasbourg-Hopital Civil, School of Biological Sciences [Adelaïde], University of Adelaide, Goethe-University Frankfurt am Main, Philipps Universität Marburg = Philipps University of Marburg, Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), The Walter and Eliza Hall Institute of Medical Research (WEHI), University of Melbourne, Epilepsy Research Centre, University of Calgary, Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), South Australian Health and Medical Research Institute [ Adelaide] (SAHMRI), University Medical Center Groningen [Groningen] (UMCG), This study has been financially supported by three different grants from the Fondation Maladies rares to C.D. (2009, 2010, 2016), Assistance Publique des Hôpitaux de Paris (APHP), INSERM, the 'Investissements d’Avenir' programme ANR-10-IAIHU-06 (IHU-A-ICM), University Duisburg-Essen and University Hospital Essen. M.B. was supported by an Australian National Health and Medical Research Council (NHMRC) Program Grant (GNT1054618) and an NHMRC Senior Research Fellowship (GNT1102971). This work was also supported by the Victorian Government’s Operational Infrastructure Support Program and the NHMRC Independent Research Institute Infrastructure Support Scheme (IRIISS). Laura Canafoglia: Member of the European Reference Network on Rare and Complex epilepsies, ERN EpiCARE., We thank the families for their participation in this study, Agnès Rastetter (ICM, Paris, France) for RNA extraction, and Emmanuelle Apartis (Hôpital Saint-Antoine, Paris, France) for electrophysiological assessment of Family 1. DNA extraction and cell culture of lymphoblasts have been performed at the DNA and cell bank of ICM (Paris, France). RNA-seq has been performed on the GenomEast platform of IGBMC, Illkirch, France. WGS has been performed by the Centre National de Recherche en Génomique Humaine (CNRGH) Institut de Biologie François Jacob, Evry, France. We thank Jean-Louis Mandel and Nicolas Charlet-Berguerand (IGBMC, Strasbourg, France), Cécile Cazeneuve (Hôpital Pitié-Salpêtrière, Paris, France), Charles Marcaillou (Integragen, Evry, France) and Isabel Silveira (Porto, Portugal) for valuable discussions., FAME consortium : Berkovic SF, Bisulli F, Brancati F, Canafoglia L, Casari G, Guerrini R, Ishiura H, Licchetta L, Mei D, Pippucci T, Sadleir L, Scheffer IE, Striano P, Tinuper P, Tsuji S, Zara F., Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre National de Recherche en Génomique Humaine (CNRGH), Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), RWTH Aachen University, Universität Duisburg-Essen [Essen], Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Philipps University of Marburg, Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris]-Université de Paris (UP), Hôpital Gui de Chauliac, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Rahel T. Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean-François Deleuze, Yannick Delpu, Mario D.M. Avarello, Lisanne S. Vijfhuizen, Gabrielle Rudolf, Edouard Hirsch, Thessa Kroes, Philipp S. Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpass, Bernhard Horsthemke, FAME consortium, Eric LeGuern, Karl Martin Klein, Pierre Labauge, Mark F. Bennett, Melanie Bahlo, Jozef Gecz, Mark A. Corbett, Marina A.J. Tijssen, Arn M.J.M. van den Maagdenberg, Christel Depienne, Francesca Bisulli, Laura Licchetta, Paolo Tinuper, MATHIEU, Alexandre, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP)

المصدر: Nature Communications
Nature Communications, 2019, 10 (1), pp.4919. ⟨10.1038/s41467-019-12763-9⟩
Nature Communications, Nature Publishing Group, 2019, 10 (1), pp.4919. ⟨10.1038/s41467-019-12763-9⟩
Nature Communications 10, 4919 (2019). doi:10.1038/s41467-019-12763-9

مصطلحات موضوعية: Male, MESH: Introns, [SDV]Life Sciences [q-bio], Medizin, MESH: DNA Repeat Expansion, Epilepsies, Myoclonic, [SDV.GEN] Life Sciences [q-bio]/Genetics, MARCH6, expansion, MESH: Ubiquitin-Protein Ligases/genetics, MESH: Aged, MESH: Middle Aged, DNA Repeat Expansion, Neurodegenerative diseases, MESH: Epilepsies, Myoclonic, Chromosome Mapping, Middle Aged, MESH: Epilepsies, Myoclonic/genetics, Pedigree, MESH: Young Adult, Female, ddc:500, MESH: Membrane Proteins, Technology Platforms, Genomic instability, Adult, Adolescent, MESH: Pedigree, Ubiquitin-Protein Ligases, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Familial Adult Myoclonic Epilepsy type 3, Article, Young Adult, Humans, Aged, MESH: Adolescent, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, Epilepsy, Membrane Proteins, MESH: Adult, MESH: Membrane Proteins/genetics, MESH: Ubiquitin-Protein Ligases, MESH: Male, Introns, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Chromosome Mapping, MESH: Female, Neurological disorders

وصف الملف: application/pdf; ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ec2c892a3045ae0244d68ba44823587aTest
http://edoc.mdc-berlin.de/20584/2/20584suppl.zipTest

3

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

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 REPORTS

مصطلحات 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

4

Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity

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. 376

وصف الملف: application/pdf; ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0762057e28a365b8dbed4f0bf77d1b25Test
http://hdl.handle.net/10044/1/66702Test

5

The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs

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 Press

مصطلحات 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

6

Dysregulated ADAM10-Mediated Processing of APP during a Critical Time Window Leads to Synaptic Deficits in Fragile X Syndrome

المؤلفون: Bart De Strooper, Claudia Bagni, Monica Di Luca, Sébastien Jacquemont, Ulrike Müller, Flora Tassone, Rudi D'Hooge, Detlef Balschun, Tariq Ahmed, Carlos G. Dotti, Laura Pacini, Zsuzsanna Callaerts-Vegh, Tina Wahle, Fabrizio Gardoni, Emanuela Pasciuto, Laura D'Andrea

المساهمون: University of Leuven, Associazione Italiana Sindrome X Fragile, Fondation Recherche Alzheimer, European Research Council, German Research Foundation, Compagnia di San Paolo, European Commission, Flanders Institute for Biotechnology, Neurology

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
Neuron

مصطلحات موضوعية: Male, MAPK/ERK pathway, Time Factors, ADAM Proteins/genetics, ADAM10, Synaptogenesis, Inbred C57BL, Green Fluorescent Proteins/genetics, Transgenic, ADAM10 Protein, Amyloid beta-Protein Precursor, Mice, ADAM Proteins, Adolescent, Adult, Age Factors, Amyloid Precursor Protein Secretases, Animals, Animals, Newborn, Cells, Cultured, Cerebral Cortex, Child, Female, Fragile X Syndrome, Gene Expression Regulation, Green Fluorescent Proteins, Humans, Membrane Proteins, Mice, Inbred C57BL, Mice, Transgenic, Neurons, Synapses, Young Adult, 0302 clinical medicine, Medicine(all), Amyloid Precursor Protein Secretases/genetics, 0303 health sciences, Cultured, General Neuroscience, Settore BIO/13, Amyloid beta-Protein Precursor/metabolism, Phenotype, 3. Good health, Fragile X syndrome, Fragile X Syndrome/genetics, Psychology, Cerebral Cortex/cytology, congenital, hereditary, and neonatal diseases and abnormalities, Cells, Neuroscience(all), Gene Expression Regulation/genetics, 03 medical and health sciences, Downregulation and upregulation, mental disorders, medicine, Membrane Proteins/genetics, 030304 developmental biology, Newborn, medicine.disease, Neurons/drug effects, nervous system diseases, Metabotropic receptor, Synapses/pathology, Neuroscience, 030217 neurology & neurosurgery, Function (biology)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef16ee38b2f96b11051f7114593b71f4Test
https://doi.org/10.1016/j.neuron.2015.06.032Test

7

Mutation of the planar cell polarity gene VANGL1 in adolescent idiopathic scoliosis

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

8

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

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., FernÃ¡ndez 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, AndrÃ© 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:49