المؤلفون: Jin, Sheng Chih, Homsy, Jason, Zaidi, Samir, Lu, Qiongshi, Morton, Sarah, DePalma, Steven R, Zeng, Xue, Qi, Hongjian, Chang, Weni, Sierant, Michael C, Hung, Wei-Chien, Haider, Shozeb, Zhang, Junhui, Knight, James, Bjornson, Robert D, Castaldi, Christopher, Tikhonoa, Irina R, Bilguvar, Kaya, Mane, Shrikant M, Sanders, Stephan J, Mital, Seema, Russell, Mark W, Gaynor, J William, Deanfield, John, Giardini, Alessandro, Porter, George A, Srivastava, Deepak, Lo, Cecelia W, Shen, Yufeng, Watkins, W Scott, Yandell, Mark, Yost, H Joseph, Tristani-Firouzi, Martin, Newburger, Jane W, Roberts, Amy E, Kim, Richard, Zhao, Hongyu, Kaltman, Jonathan R, Goldmuntz, Elizabeth, Chung, Wendy K, Seidman, Jonathan G, Gelb, Bruce D, Seidman, Christine E, Lifton, Richard P, Brueckner, Martina

المصدر: Nature Genetics. 49(11)

مصطلحات موضوعية: Biological Sciences, Genetics, Cardiovascular, Pediatric, Congenital Structural Anomalies, Brain Disorders, Heart Disease, Heart Disease - Coronary Heart Disease, 2.1 Biological and endogenous factors, Aetiology, Adult, Autistic Disorder, Cardiac Myosins, Case-Control Studies, Child, Exome, Female, Gene Expression, Genetic Predisposition to Disease, Genome-Wide Association Study, Growth Differentiation Factor 1, Heart Defects, Congenital, Heterozygote, High-Throughput Nucleotide Sequencing, Homozygote, Humans, Male, Mutation, Myosin Heavy Chains, Pedigree, Risk, Vascular Endothelial Growth Factor Receptor-3, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/53v407g4Test

المؤلفون: Cecelia W. Lo, Stephen Sanders, Sarah U. Morton, Irina R. Tikhonoa, Samir Zaidi, Elizabeth Goldmuntz, Hongjian Qi, Richard B. Kim, Jonathan R. Kaltman, Jonathan G. Seidman, Xue Zeng, Jason Homsy, George A. Porter, W. Scott Watkins, Deepak Srivastava, Weni Chang, Martin Tristani-Firouzi, Seema Mital, James R. Knight, Qiongshi Lu, Steven R. DePalma, John E. Deanfield, Christopher Castaldi, J. William Gaynor, Yufeng Shen, Bruce D. Gelb, Mark W. Russell, Richard P. Lifton, Alessandro Giardini, Kaya Bilguvar, Wendy K. Chung, Jane W. Newburger, H. Joseph Yost, Sheng Chih Jin, Mark Yandell, Martina Brueckner, Shrikant Mane, Robert D. Bjornson, Wei Chien Hung, Amy E. Roberts, Junhui Zhang, Christine E. Seidman, Michael C. Sierant, Hongyu Zhao, Shozeb Haider

المصدر: Nature genetics
Nature genetics, vol 49, iss 11

مصطلحات موضوعية: Heart Defects, Congenital, Risk, Adult, Male, 0301 basic medicine, Proband, Heterozygote, Heart disease, Gene Expression, Genome-wide association study, Biology, Medical and Health Sciences, Article, Growth Differentiation Factor 1, Congenital, 03 medical and health sciences, Genotype, Genetics, medicine, Humans, Genetic Predisposition to Disease, Exome, cardiovascular diseases, Autistic Disorder, Child, Exome sequencing, Heart Defects, Tetralogy of Fallot, Myosin Heavy Chains, Homozygote, Case-control study, High-Throughput Nucleotide Sequencing, Biological Sciences, Vascular Endothelial Growth Factor Receptor-3, medicine.disease, Pedigree, 3. Good health, Editorial, 030104 developmental biology, Case-Control Studies, Mutation, Female, Cardiac Myosins, Genome-Wide Association Study, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::901990cdfca7f6f14265588f9eac4db8Test
https://doi.org/10.1038/ng.3970Test

المؤلفون: Qingfeng Cao, Meilin Wang, Hong Li, Chaokui Wang, Liang Liang, Liping Du, Yan Zhou, Ke Hu, Lulin Huang, Meifen Zhang, Jian Qi, Bo Lei, Peizeng Yang, Chi Pui Pang, Wenjuan Zhuang, Jianfeng Xu, Dan Liao, Zhenglin Yang, Hongsong Yu, Aize Kijlstra, Minglian Zhang, Lin Bai, Zi Ye, Qi Zhang, Qingyun Zhou, Shengping Hou, Yuan Tian, Bo Gong, Yunjia Liu

المساهمون: Promovendi MHN, RS: MHeNs - R3 - Neuroscience, Oogheelkunde

المصدر: Nature Genetics, 46(9), 1007-1011. Nature Publishing Group

مصطلحات موضوعية: Adult, musculoskeletal diseases, Genotype, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Ciliary body, Asian People, Polymorphism (computer science), Genetics, medicine, Humans, Genetic Predisposition to Disease, Allele, Promoter Regions, Genetic, Gene, Aged, Chromosomes, Human, Pair 10, Odds ratio, Middle Aged, eye diseases, medicine.anatomical_structure, Chromosomes, Human, Pair 1, Genetic Loci, Case-Control Studies, Female, Choroid, Uveomeningoencephalitic Syndrome, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3b9ffa611677c3d3c44a5d6688f6d38Test
https://doi.org/10.1038/ng.3061Test

المؤلفون: Chiea Chuen Khor, Peter W. M. Hermans, David Inwald, Enitan D. Carrol, Taco W. Kuijpers, Marieke Emonts, Victoria J. Wright, Chui Chin Lim, Kar Seng Sim, Sonia Davila, Ronald de Groot, Jan A. Hazelzet, Antonio Salas, Martin L. Hibberd, Willemijn B. Breunis, Simon Nadel, A. Binder, Federico Martinón-Torres, Werner Zenz, Michael Levin, Helen Betts

المساهمون: Paediatric Infectious Diseases / Rheumatology / Immunology, Paediatric Oncology, AII - Amsterdam institute for Infection and Immunity, Pediatrics

المصدر: Nature genetics, 42(9), 772-U63. Nature Publishing Group
Nature Genetics, 42, 9, pp. 772-6
Nature Genetics, 42(9), 772-776. Nature Publishing Group
Nature Genetics, 42(9), 772-U63. Nature Publishing Group
Nature Genetics, 42, 772-6

مصطلحات موضوعية: Adult, Male, Adolescent, Genetic Linkage, Population, CHILDREN, HAPLOTYPE, Single-nucleotide polymorphism, Genome-wide association study, Complement factor I, Neisseria meningitidis, Biology, medicine.disease_cause, Meningococcal disease, Polymorphism, Single Nucleotide, COMPLEMENT FACTOR-H, Young Adult, Genetics, medicine, Humans, Genetic Predisposition to Disease, Child, education, SYSTEMIC MENINGOCOCCEMIA, RISK, education.field_of_study, Infant, Newborn, Infant, Middle Aged, MACULAR DEGENERATION, medicine.disease, Complement system, Pathogenesis and modulation of inflammation [N4i 1], Meningococcal Infections, Case-Control Studies, Child, Preschool, Complement Factor H, Factor H, Host-Pathogen Interactions, Immunology, 4G/5G PROMOTER POLYMORPHISM, Female, Infection and autoimmunity [NCMLS 1], PLASMINOGEN-ACTIVATOR-INHIBITOR-1 GENE, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46bb2cfc7f2b9eb24af91a9eda0bfac5Test
https://doi.org/10.1038/ng.640Test

المؤلفون: Siew-Kee Low, Wei Lu, Min Ho Park, Yoshio Kasuga, Jiemin Liao, Sei Hyun Ahn, Ji Yeob Choi, Hyuna Sung, Michiaki Kubo, Bingshan Li, Kyota Ashikawa, Yanfeng Zhang, Hidemi Ito, Koichi Matsuda, Chen-Yang Shen, Ryan J. Delahanty, Bu Tian Ji, Yu-Tang Gao, Han Sung Kang, Yusuke Nakamura, Motoki Iwasaki, Hiroji Iwata, Chia-Ni Hsiung, Mi Kyung Kim, Ying Zheng, Ellen P S Man, Daehee Kang, Ui-Soon Khoo, Soo Hwang Teo, Xiao-Ou Shu, Yong-Bing Xiang, Wanqing Wen, Jiajun Shi, Wei Zheng, Chun Li, Shoichiro Tsugane, Keitaro Matsuo, Hui Miao, Peter B. Kang, Pei-Ei Wu, Qiuyin Cai, Sue K. Park, Kelvin Y.K. Chan, Dong-Young Noh, Jirong Long, Shivaani Mariapun, Ben Zhang, Sun-Seog Kweon, Atsushi Takahashi, Mikael Hartman, Min-Ho Shin

المصدر: Nature genetics

مصطلحات موضوعية: Adult, Risk, Breast Neoplasms, Genome-wide association study, Biology, White People, Article, Breast cancer, Asian People, Genetics, medicine, Genome-Wide Association Analysis, Humans, Genetic Predisposition to Disease, skin and connective tissue diseases, Genetic association, Chromosomes, Human, Pair 15, Asia, Eastern, Case-control study, Middle Aged, medicine.disease, 3. Good health, Chromosomes, Human, Pair 1, Genetic Loci, Case-Control Studies, Susceptibility locus, Chromosomes, Human, Pair 5, Female, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41690ee65f134c0e9e1d14d3713395acTest
https://doi.org/10.1038/ng.3041Test

المؤلفون: Thorunn Rafnar, Johan Hansson, Daniel F. Gudbjartsson, Raquel Andrés, Pablo Juberías, Margret Jakobsdottir, Solveig Gretarsdottir, Jeffrey R. Gulcher, Konstantinos Kostulas, Bardur Sigurgeirsson, Berta Saez, Kristin Thorisdottir, Rajesh Kumar, Jón Ólafsson, Margaret A. Tucker, Patrick Sulem, Veronica Magnusson, Kari Stefansson, Dominique Scherer, Simon N. Stacey, Eugene Gurzau, Stacy Steinberg, Augustine Kong, Eduardo Nagore, Lambertus A. Kiemeney, Peter Rudnai, Kristrun R. Benediktsdottir, Rafael Botella-Estrada, Annika Lindblom, Kvetoslava Koppova, Unnur Thorsteinsdottir, Matilde Grasa, Virtudes Soriano, Agnar Helgason, Steinunn G Sveinsdottir, Jose I. Mayordomo, Rafn Ragnarsson, Alisa M. Goldstein

المصدر: Nature Genetics, 40, 7, pp. 886-91
Nature Genetics, 40, 886-91

مصطلحات موضوعية: Adult, Skin Neoplasms, Adolescent, Aetiology, screening and detection [ONCOL 5], Biology, Polymorphism, Single Nucleotide, Molecular epidemiology [NCEBP 1], Gene Frequency, Translational research [ONCOL 3], Genetics, medicine, Eye color, Odds Ratio, Humans, Basal cell carcinoma, Genetic Predisposition to Disease, TYRP1, Registries, Neoplasm Metastasis, Melanoma, Genetic association, Aged, Molecular diagnosis, prognosis and monitoring [UMCN 1.2], Aged, 80 and over, Membrane Glycoproteins, Eye Color, Hereditary cancer and cancer-related syndromes [ONCOL 1], integumentary system, Monophenol Monooxygenase, Pigmentation, Haplotype, Cancer, Odds ratio, Middle Aged, medicine.disease, Molecular biology, Europe, Carcinoma, Basal Cell, Case-Control Studies, Cutaneous melanoma, Agouti Signaling Protein, Oxidoreductases, Receptor, Melanocortin, Type 1

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f699dd3e6850560269f33845949582dTest
https://hdl.handle.net/2066/69041Test

المؤلفون: Silvana Savoldi, Antonio Amoroso, Alessandro Amore, Hong Zhang, Weiming Wang, Robert J. Wyatt, Gian Marco Ghiggeri, Krzysztof Kiryluk, Francesca Lugani, Bruce A. Julian, Monica Bodria, Clara J. Men, Jingyuan Xie, Pietro Ravani, Murat Gunel, Paola Mesiano, Jicheng Lv, Renzo Mignani, Francesca Bertinetto, Prati E, Riccardo Magistroni, Isabel Beerman, Sheila Umlauf, Nan Chen, Francesco Scolari, Battista Fabio Viola, Maurizio Salvadori, Claudio Ponticelli, Haiyan Wang, Ali G. Gharavi, Yifu Li, Landino Allegri, Rosanna Coppo, John Cijiang He, Giovanni M. Frascà, Murim Choi, Jan Novak, Loreto Gesualdo, Irina Tikhonova, Kasuhito Yasuno, Zhaohui Wang, Licia Peruzzi, Li Zhu, Giuliano Boscutti, Shrikant Mane, Richard P. Lifton, Claudia Izzi, Ping Hou, Simone Sanna-Cherchi

المصدر: Nature Genetics. 43:321-327

مصطلحات موضوعية: Adult, Male, Chromosomes, Human, Pair 22, 030232 urology & nephrology, Locus (genetics), Genome-wide association study, Human leukocyte antigen, Biology, Polymorphism, Single Nucleotide, White People, Article, Nephropathy, Cohort Studies, Major Histocompatibility Complex, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Asian People, HLA Antigens, Risk Factors, Complement C3b Inactivator Proteins, Genetics, medicine, Humans, GWAS, Genetic Predisposition to Disease, Selection, Genetic, Allele, Alleles, 030304 developmental biology, IGAN, 0303 health sciences, Neprhopathy, Case-control study, Glomerulonephritis, IGA, Blood Proteins, Odds ratio, medicine.disease, IgA nephropathy Genome wide scanning, 3. Good health, Minor allele frequency, Chromosomes, Human, Pair 1, Case-Control Studies, Immunology, Female, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e30881e9f09e028b0ceba01237576d6Test
https://doi.org/10.1038/ng.787Test

المؤلفون: Xia Xia, Gangqiao Zhou, Zhongliang Wei, Peiyao Li, Ying Cui, Chen Wu, Fuchu He, Hongxing Zhang, Jingmin Yang, Yun Zhai, Zhifu Wang, Dongxin Lin, Yang Zhang, Hao Yang, Feng Gong, Minshan Chen, Wei Qiu, Xiumei Zhang, Wei Hua Jia, Zhibin Hu, Ji Qian, Renxiang Liang, Yi Xin Zeng, Wenfeng Huang, Yunfei Yuan, Fuchao Ma, Wei Yue, Lixia Yu, Mi Cai, Xinsen Yu, Hongbing Shen, Weimin Xie

المصدر: Nature Genetics. 42:755-758

مصطلحات موضوعية: Adult, Male, Hepatitis B virus, Carcinoma, Hepatocellular, Genome-wide association study, medicine.disease_cause, Polymorphism, Single Nucleotide, Virus, Hepatitis B, Chronic, Asian People, Orthohepadnavirus, Genetics, medicine, Humans, Genetic Predisposition to Disease, Aged, biology, Liver Neoplasms, Middle Aged, Hepatitis B, biology.organism_classification, medicine.disease, Virology, Hepadnaviridae, Chromosomes, Human, Pair 1, Genetic Loci, Case-Control Studies, Hepatocellular carcinoma, Carrier State, Female, Viral hepatitis, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5e2b2cfa84014dd03bf941f641f845fTest
https://doi.org/10.1038/ng.638Test

المؤلفون: Stephany Fulda, Barbara Schormair, Christian Gieger, Claudia Trenkwalder, Bertram Müller-Myhsok, Peter Lichtner, Cornelius G. Bachmann, Ilonka Eisensehr, Gustavo Turecki, Jacques Montplaisir, Thomas Meitinger, Stephanie Hauk, Lan Xiong, Thomas Illig, Guy A. Rouleau, Ines Peglau, Alexander Zimprich, Juliane Winkelmann, Karin Stiasny-Kolster, Stephan Ripke, Walter Paulus, Gertrud Eckstein, Wolfgang H. Oertel, Shapour Jalilzadeh, Benno Pütz, H-Erich Wichmann, Florian Holsboer

المصدر: Nature Genetics. 39:1000-1006

مصطلحات موضوعية: Adult, Nerve Tissue Proteins, Locus (genetics), Genome-wide association study, MAP Kinase Kinase 5, Biology, Polymorphism, Single Nucleotide, White People, 03 medical and health sciences, 0302 clinical medicine, Restless Legs Syndrome, mental disorders, Genetics, medicine, Humans, Genetic Predisposition to Disease, Restless legs syndrome, Allele, Myeloid Ecotropic Viral Integration Site 1 Protein, Gene, Aged, 030304 developmental biology, Aged, 80 and over, Homeodomain Proteins, Chromosomes, Human, Pair 15, 0303 health sciences, Haplotype, Chromosome Mapping, Middle Aged, medicine.disease, Introns, Neoplasm Proteins, Repressor Proteins, BTBD9, Haplotypes, Case-Control Studies, Chromosomes, Human, Pair 2, Homeobox, Chromosomes, Human, Pair 6, Co-Repressor Proteins, 030217 neurology & neurosurgery, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99d75b653b59f005f463d28cbad70cc3Test
https://doi.org/10.1038/ng2099Test

المؤلفون: Alexander Kreuter, Gabriela Riemekasten, Patricia Carreira, Timothy R D J Radstake, Rajan Madhok, María Francisca González-Escribano, Filip De Keyser, Nico Hunzelmann, Ariane L. Herrick, Monique Hinchcliff, Ruben van 't Slot, Rafaella Scorza, Benedicte A. Lie, Jose Ezequiel Martin, Roger Hesselstrand, Pravitt Gourh, Laura K. Hummers, Lorenzo Beretta, Jun Ying, Fredrick M. Wigley, Annemie J. Schuerwegh, Hans P. Kiener, Vanessa Smith, Jaap M van Laar, Paolo Airò, Paul G. Shiels, Blanca Rueda, Norberto Ortego-Centeno, Carmen P. Simeon, Filemon K. Tan, Anna Maria Hoffmann-Vold, Shervin Assassi, Shih-Feng Weng, Annet Italiaander, Alexandre E. Voskuyl, J. Lee Nelson, Fredric Houssiau, Olga Y. Gorlova, Jane Worthington, Torsten Witte, Piet L. C. M. van Riel, Younghun Han, Maureen D. Mayes, Lars Klareskog, Peter K. Gregersen, Jasper C A Broen, Christopher I. Amos, Sandeep K. Agarwal, Leonid Padykov, Frank C. Arnett, Marieke J H Coenen, Rene Westhovens, Roel A. Ophoff, Bobby P. C. Koeleman, Meng May Chee, Behrooz Z. Alizadeh, Elfride De Baere, Annette Lee, Rogelio Palomino-Morales, Madelon C. Vonk, Javier Martín, John Varga, Miguel A. Gonzalez-Gay

المساهمون: UCL - SSS/IREC/RUMA - Pôle de Pathologies rhumatismales

المصدر: Nature genetics
Nature Genetics, 42(5), 426
Digital.CSIC. Repositorio Institucional del CSIC
instname
Nature Genetics, 42, 5, pp. 426-9
Nature Genetics, 42, 426-9
Nature Genetics, Vol. 42, no. 5, p. 426-429 (2010)

مصطلحات موضوعية: Adult, Male, Systemic disease, CD3 Complex, CD247, Population, Antigens, CD3 - genetics, Genome-wide association study, Single-nucleotide polymorphism, Biology, Auto-immunity, transplantation and immunotherapy [N4i 4], Article, Cohort Studies, Genomic disorders and inherited multi-system disorders [IGMD 3], Molecular epidemiology [NCEBP 1], Risk Factors, Odds Ratio, Genetics, medicine, Humans, Genetic Predisposition to Disease, Health care ethics [NCEBP 5], education, skin and connective tissue diseases, Aged, education.field_of_study, Scleroderma, Systemic, Lupus erythematosus, integumentary system, Multiple sclerosis, Scleroderma, Systemic - genetics, Middle Aged, medicine.disease, Europe, Evaluation of complex medical interventions [NCEBP 2], Case-Control Studies, Immunology, Female, cd4 t-cells lupus-erythematosus functional polymorphism japanese population cd3-zeta expression complex risk scleroderma mechanisms phenotype, Human medicine, Infection and autoimmunity [NCMLS 1], IRF5, Genome-Wide Association Study

وصف الملف: 2239225 bytes; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a001377c960c621034c2e721e9e79d1eTest
https://hdl.handle.net/10067/828150151162165141Test