المؤلفون: Ko, Jae Sung, Kim, Kyung Mo, Oh, Young Lyun, Seo, Jeong Kee

المساهمون: 고재성, 김경모, 오영련, 서정기

مصطلحات موضوعية: Adolescent, Antigens, Bacterial/*genetics, Bacterial Outer Membrane Proteins/*genetics, Bacterial Proteins/*genetics, Child, Preschool, Endoscopy, Digestive System, Female, Gastritis/diagnosis/*microbiology, Genotype, Helicobacter Infections/*genetics/*microbiology, Helicobacter pylori/classification/*genetics/isolation &, purification, Humans, Korea, Male, Severity of Illness Index, Virulence Factors/genetics

العلاقة: Pediatr Int. 2008; 50(5): 628-631; 1442-200X (Electronic); http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=19261108Test; http://hdl.handle.net/10371/68143Test

الإتاحة: https://doi.org/10.1111/j.1442-200X.2008.02641.xTest
http://hdl.handle.net/10371/68143Test
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=19261108Test

المساهمون: K. W. Chung, S. B. Kim, K. D. Park, K. G. Choi, J. H. Lee, H. W. Eun, J. S. Suh, J. H. Hwang, W. K. Kim, B. C. Seo, S. H. Kim, I. H. Son, S. M. Kim, I. N. Sunwoo, B. O. Choi, Kim, Se Hoon, Kim, Seung Min, Sunwoo, Il Nam

المصدر: T200600401.pdf

مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Amino Acid Sequence, Brain/pathology, Charcot-Marie-Tooth Disease/genetics, Charcot-Marie-Tooth Disease/pathology, Child, Disability Evaluation, Female, GTP Phosphohydrolases, Humans, Magnetic Resonance Imaging, Male, Membrane Proteins/genetics, Microscopy, Electron, Middle Aged, Mitochondrial Proteins/genetics, Molecular Sequence Data, Mutation, Neural Conduction, Optic Atrophies, Hereditary/genetics, Pedigree, Phenotype, Severity of Illness Index, Sural Nerve/ultrastructure, Charcot�밠arie�밫ooth disease, CMT2A

وصف الملف: 2103~2118

العلاقة: BRAIN; J00385; OAK-2006-00504; https://ir.ymlib.yonsei.ac.kr/handle/22282913/109244Test; T200600401; BRAIN, Vol.129(8) : 2103-2118, 2006

الإتاحة: https://doi.org/10.1093/brain/awl174Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/109244Test

المؤلفون: Kitamura, Akiko, Tsukaguchi, Hiroyasu, Iijima, Kazumoto, Araki, Jungo, Hattori, Motoshi, Ikeda, Masahiro, Honda, Masataka, Nozu, Kandai, Nakazato, Hitoshi, Yoshikawa, Norishige, Kagami, Shoji, Muramatsu, Masaaki, Choi, Yong, Cheong, Hae Il, Doi, Toshio

المساهمون: 최용, 정해일

مصطلحات موضوعية: Adolescent, Asia, Child, Preschool, Drug Resistance/genetics, Female, Humans, Infant, Intracellular Signaling Peptides and Proteins/genetics, Male, Membrane Proteins/genetics, Nephrotic Syndrome/*drug therapy/*genetics, Prednisolone/*therapeutic use

العلاقة: Nephrol Dial Transplant. 2006 Nov;21(11):3133-8. Epub 2006 Sep 12.; 0931-0509 (Print); http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16968734Test; http://hdl.handle.net/10371/28461Test

الإتاحة: https://doi.org/10.1093/ndt/gfl347Test
http://hdl.handle.net/10371/28461Test
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16968734Test

المؤلفون: Kloth, Katja, Synofzik, Matthis, Kernstock, Christoph, Schimpf-Linzenbold, Simone, Schuettauf, Frank, Neu, Axel, Wissinger, Bernd, Weisschuh, Nicole

المصدر: BMC medical genetics 20(1), 62 (2019). doi:10.1186/s12881-019-0795-x

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adolescent, Codon, Nonsense, Female, Genes, Recessive, Humans, Male, Membrane Proteins: genetics, Optic Atrophy: genetics, Young Adult, Membrane Proteins, TMEM126A protein, human

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:30961538; info:eu-repo/semantics/altIdentifier/issn/1471-2350; https://pub.dzne.de/record/140640Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-06962%22Test

الإتاحة: https://doi.org/10.1186/s12881-019-0795-xTest
https://pub.dzne.de/record/140640Test
https://pub.dzne.de/search?p=id:%22DZNE-2020-06962%22Test

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

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

مصطلحات 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

المؤلفون: Lefebvre, Mathilde, Dieux-Coeslier, Anne, Baujat, Genevieve, Schaefer, Elise, Judith, Saint-Onge, Bazin, Anne, Pinson, Lucile, Attie-Bitach, Tania, Baumann, Clarisse, Fradin, Melanie, PIERQUIN, Geneviève, Julia, Sophie, Quelin, Chloe, Doray, Berenice, Berg, Sylvie, Vincent-Delorme, Catherine, Lambert, Laetitia, Bachmann, Nadine, Lacombe, Didier, Isidor, Bertrand, Laurent, Nicole, Joelle, Roume, Blanchet, Patricia, Odent, Sylvie, Kervran, Dominique, Leporrier, Nathalie, Abel, Carine, SEGERS, Karin, Guiliano, Fabienne, Ginglinger-Fabre, Emmanuelle, Selicorni, Angelo, Goldenberg, Alice, El Chehadeh, Salima, Francannet, Christine, Demeer, Benedicte, Duffourd, Yannis, Thauvin-Robinet, Christel, Verloes, Alain, Cormier-Daire, Valerie, Riviere, Jean-Baptiste, Faivre, Laurence, Thevenon, Julien

المصدر: Journal of Medical Genetics, 55 (6), 422-429 (2018)

مصطلحات موضوعية: Adolescent, Basic Helix-Loop-Helix Transcription Factors/genetics, Bone Diseases, Developmental/genetics/physiopathology, Child, Preschool, Female, Glycosyltransferases/genetics, Humans, Infant, Intracellular Signaling Peptides and Proteins/genetics, Male, Membrane Proteins/genetics, Mutation, Pedigree, Phenotype, Spine/metabolism/pathology, T-Box Domain Proteins/genetics, Whole Exome Sequencing, diagnostic strategy, gene panel, segmentation defect of the vertebrae, spondylocostal dysostosis, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

العلاقة: urn:issn:0022-2593; urn:issn:1468-6244; https://orbi.uliege.be/handle/2268/242507Test; info:hdl:2268/242507; scopus-id:2-s2.0-85052570741; info:pmid:29459493

الإتاحة: https://doi.org/10.1136/jmedgenet-2017-104939Test
https://orbi.uliege.be/handle/2268/242507Test

المؤلفون: Bansal, V., Mitjans, M., Nivard, M. G., Ehrenreich, H., Koellinger, P. D., Burik, C. A. P., Linnér, R. K., Okbay, A., Rietveld, C. A., Begemann, M., Bonn, S., Ripke, S., de Vlaming, R.

المصدر: Nature Communications 9(1), 3078 (2018). doi:10.1038/s41467-018-05510-z

مصطلحات موضوعية: info:eu-repo/classification/ddc/500, Adolescent, Adult, Aged, Bipolar Disorder: genetics, Cognition Disorders: genetics, Educational Status, Female, Forkhead Transcription Factors: genetics, Gene Frequency, Genetic Heterogeneity, Genome-Wide Association Study, Humans, Linkage Disequilibrium, Male, Membrane Proteins: genetics, Middle Aged, Models, Genetic, Nerve Tissue Proteins: genetics, Phenotype, Polymorphism, Single Nucleotide, Reproducibility of Results, Schizophrenia: genetics, Young Adult, FOXO6 protein, human, Forkhead Transcription Factors, Membrane Proteins

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:30082721; info:eu-repo/semantics/altIdentifier/issn/2041-1723; https://pub.dzne.de/record/140131Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-06453%22Test

الإتاحة: https://doi.org/10.1038/s41467-018-05510-zTest
https://pub.dzne.de/record/140131Test
https://pub.dzne.de/search?p=id:%22DZNE-2020-06453%22Test

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

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