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1Academic Journal
المؤلفون: Belanger, Janelle M, Heinonen, Tiina, Famula, Thomas R, Mandigers, Paul JJ, Leegwater, Peter A, Hytönen, Marjo K, Lohi, Hannes, Oberbauer, Anita M
المصدر: Genes. 13(7)
مصطلحات موضوعية: Biological Sciences, Genetics, Neurosciences, Brain Disorders, Human Genome, Biotechnology, Rare Diseases, Epilepsy, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Animals, Belgium, Dog Diseases, Dogs, Genetic Predisposition to Disease, Haplotypes, Humans, ras Guanine Nucleotide Exchange Factors, dog, idiopathic epilepsy, RAPGEF5, risk haplotype
وصف الملف: application/pdf
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2Academic Journal
المؤلفون: Benzow, Kellie, Karanjeet, Kul, Oblak, Adrian L., Carter, Gregory W., Sasner, Michael, Koob, Michael D.
المساهمون: Radiology and Imaging Sciences, School of Medicine
المصدر: PMC
مصطلحات موضوعية: Functional sequence variant, Gene‐replacement mouse model, Protective haplotype, Risk haplotype
وصف الملف: application/pdf
Relation: Alzheimer's & Dementia; Benzow K, Karanjeet K, Oblak AL, Carter GW, Sasner M, Koob MD. Gene replacement-Alzheimer's disease (GR-AD): Modeling the genetics of human dementias in mice. Alzheimers Dement. 2024;20(4):3080-3087. doi:10.1002/alz.13730; https://hdl.handle.net/1805/42172
الاتاحة: https://hdl.handle.net/1805/42172
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3Academic Journal
المؤلفون: Humberto García-Ortiz, Francisco Barajas-Olmos, Marlen Flores-Huacuja, Monserrat I. Morales-Rivera, Angélica Martínez-Hernández, Vicente Baca, Cecilia Contreras-Cubas, Lorena Orozco
المصدر: Frontiers in Medicine, Vol 9 (2023)
مصطلحات موضوعية: childhood-onset systemic lupus erythematosus, Xq28 risk haplotype, ancestry-dependent, IRAK1, MECP2, Medicine (General), R5-920
وصف الملف: electronic resource
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4Academic Journal
المؤلفون: Tschernoster, Nikolai, Erger, Florian, Kohl, Stefan, Reusch, Björn, Wenzel, Andrea, Walsh, Stephen, Thiele, Holger, Becker, Christian, Franitza, Marek, Bartram, Malte P., Kömhoff, Martin, Schumacher, Lena, Kukat, Christian, Borodina, Tatiana, Quedenau, Claudia, Nürnberg, Peter, Rinschen, Markus M., Driller, Jan H., Pedersen, Bjørn P., Schlingmann, Karl P., Hüttel, Bruno, Bockenhauer, Detlef, Beck, Bodo, Altmüller, Janine
المصدر: Tschernoster , N , Erger , F , Kohl , S , Reusch , B , Wenzel , A , Walsh , S , Thiele , H , Becker , C , Franitza , M , Bartram , M P , Kömhoff , M , Schumacher , L , Kukat , C , Borodina , T , Quedenau , C , Nürnberg , P , Rinschen , M M , Driller , J H , Pedersen , B P , Schlingmann , K P , Hüttel , B , Bockenhauer , D , Beck , B & Altmüller , ....
مصطلحات موضوعية: Bartter syndrome type 3, CLCNKA, CLCNKB, HiFi-sequencing, Long-read sequencing, Next-generation sequencing, Risk haplotype, Salt-wasting tubulopathy, Structural variant, Target enrichment
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5Academic Journal
المؤلفون: Jiao, Xiang, Aravidis, Christos, Marikkannu, Rajeshwari, Rantala, Johanna, Picelli, Simone, Adamovic, Tatjana, Liu, Tao, Maguire, Paula, Kremeyer, Barbara, Luo, Liping, von Holst, Susanna, Kontham, Vinaykumar, Thutkawkorapin, Jessada, Margolin, Sara, Du, Quan, Lundin, Johanna, Michailidou, Kyriaki, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Lush, Michael, Ambrosone, Christine B, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Beckmann, Matthias W, Blomqvist, Carl, Blot, William, Boeckx, Bram, Bojesen, Stig E, Bonanni, Bernardo, Brand, Judith S, Brauch, Hiltrud, Brenner, Hermann, Broeks, Annegien, Brüning, Thomas, Burwinkel, Barbara, Cai, Qiuyin, Chang-Claude, Jenny, Couch, Fergus J, Cox, Angela, Cross, Simon S, Deming-Halverson, Sandra L, Devilee, Peter, dos-Santos-Silva, Isabel, Dörk, Thilo, Eriksson, Mikael, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Flyger, Henrik, Gabrielson, Marike, García-Closas, Montserrat, Giles, Graham G, González-Neira, Anna, Guénel, Pascal, Guo, Qi, Gündert, Melanie, Haiman, Christopher A, Hallberg, Emily, Hamann, Ute, Harrington, Patricia, Hooning, Maartje J, Hopper, John L, Huang, Guanmengqian, Jakubowska, Anna, Jones, Michael E, Kerin, Michael J, Kosma, Veli-Matti, Kristensen, Vessela N, Lambrechts, Diether, Le Marchand, Loic, Lubinski, Jan, Mannermaa, Arto, Martens, John WM, Meindl, Alfons, Milne, Roger L, Mulligan, Anna Marie, Neuhausen, Susan L, Nevanlinna, Heli, Peto, Julian, Pylkäs, Katri, Radice, Paolo, Rhenius, Valerie, Sawyer, Elinor J, Schmidt, Marjanka K, Schmutzler, Rita K, Seynaeve, Caroline, Shah, Mitul, Simard, Jacques, Southey, Melissa C, Swerdlow, Anthony J, Truong, Thérèse, Wendt, Camilla, Winqvist, Robert, Zheng, Wei, Benitez, Javier, Dunning, Alison M, Pharoah, Paul DP
المصدر: Oncotarget. 8(61)
مصطلحات موضوعية: Cancer, Prevention, Breast Cancer, Genetics, Human Genome, Genetic Testing, 2.1 Biological and endogenous factors, Aetiology, familial breast cancer, linkage analysis, risk haplotype, sequencing, NBCS Collaborators, kConFab/AOCS Investigators, Oncology and Carcinogenesis
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/6gx4c4wc
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6Academic Journal
المؤلفون: Stefano Mocci, Roberto Littera, Stefania Tranquilli, Aldesia Provenzano, Alessia Mascia, Federica Cannas, Sara Lai, Erika Giuressi, Luchino Chessa, Goffredo Angioni, Marcello Campagna, Davide Firinu, Maria Del Zompo, Giorgio La Nasa, Andrea Perra, Sabrina Giglio
المصدر: Frontiers in Immunology, Vol 13 (2022)
مصطلحات موضوعية: COVID-19, SARS-CoV-2, Neanderthal Covid-19 risk haplotype, rs35044562 variant, HLA-A*02:01, B*18:01, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
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7Academic Journal
المؤلفون: Nataliia Karpova, Olga Dmitrenko, Ekaterina Arshinova
المصدر: Biology and Life Sciences Forum; Volume 20; Issue 1; Pages: 31
مصطلحات موضوعية: preeclampsia SNP, polymorphism, FLT1, risk haplotype, TFBs, TF
وصف الملف: application/pdf
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8Academic Journal
المؤلفون: Krishnamoorthy Srikanth, Dirsko J. F. von Pfeil, Bryden J. Stanley, Caroline Griffitts, Heather J. Huson
المصدر: Genes; Volume 13; Issue 10; Pages: 1808
مصطلحات موضوعية: congenital laryngeal paralysis, Alaskan sled dog, Alaskan husky, GWAS, WGS, risk haplotype, CFA18, ALX4, EXT2, TSPAN53I11
جغرافية الموضوع: agris
وصف الملف: application/pdf
Relation: Animal Genetics and Genomics; https://dx.doi.org/10.3390/genes13101808
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9Academic Journal
المؤلفون: Janelle M. Belanger, Tiina Heinonen, Thomas R. Famula, Paul J. J. Mandigers, Peter A. Leegwater, Marjo K. Hytönen, Hannes Lohi, Anita M. Oberbauer
المصدر: Genes; Volume 13; Issue 7; Pages: 1124
مصطلحات موضوعية: dog, idiopathic epilepsy, RAPGEF5, risk haplotype
جغرافية الموضوع: agris
وصف الملف: application/pdf
Relation: Animal Genetics and Genomics; https://dx.doi.org/10.3390/genes13071124
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10Academic Journal
المؤلفون: Mel·lina Pinsach-Abuin, Bernat del Olmo, Adrian Pérez-Agustin, Jesus Mates, Catarina Allegue, Anna Iglesias, Qi Ma, Daria Merkurjev, Sergiy Konovalov, Jing Zhang, Farah Sheikh, Amalio Telenti, Josep Brugada, Ramon Brugada, Melissa Gymrek, Julia di Iulio, Ivan Garcia-Bassets, Sara Pagans
المصدر: Cell Reports Medicine, Vol 2, Iss 4, Pp 100250- (2021)
مصطلحات موضوعية: GWAS, haplotype block, common SNV, non-coding SNV, SNV redundancy, risk haplotype, Medicine (General), R5-920
وصف الملف: electronic resource
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11Academic Journal
المؤلفون: Harald Prüss, Guido Gessner, Stefan H. Heinemann, Franz Rüschendorf, Ann-Kathrin Ruppert, Herbert Schulz, Thomas Sander, Wilhelm Rimpau
المصدر: Frontiers in Neurology, Vol 10 (2019)
مصطلحات موضوعية: LQT syndrome, KCNQ1, familial epilepsy, risk haplotype, genetic modifier, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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12Academic Journal
المؤلفون: Bandres-Ciga, Sara, Sarah, Ahmed, Marya S., Sabir, Blauwendraat, Cornelis, Adarmes-Gómez, Astrid D, Bernal-Bernal, Inmaculada, Bonilla-Toribio, Marta, Buiza-Rueda, Dolores, Carrillo, Fátima, Carrión-Claro, Mario, Gómez Garre, Pilar, Jesús, Silvia, Labrador-Espinosa, Miguel A., Macías, Daniel, Méndez-del-Barrio, Carlota, Periñán-Tocino, Teresa, Tejera-Parrado, Cristina, Vargas González, Laura, Diez-Fairen, Monica, Alvarez, Ignacio, Tartari, Juan Pablo, Buongiorno, Mariateresa, Aguilar, Miguel, Gorostidi, Ana, Bergareche, Jesús Alberto, Mondragon, Elisabet, Vinagre-Aragon, Ana, Croitoru, Ioana, Ruiz-Martínez, Javier, Dols-Icardo, Oriol, Kulisevsky, Jaime, Marín-Lahoz, Juan, Pagonabarraga, Javier, Pascual-Sedano, Berta, Ezquerra, Mario, Cámara, Ana, Compta, Yaroslau, Fernández, Manel, Fernández-Santiago, Rubén, Muñoz, Estaban, Tolosa, Eduard, Valldeoriola, Francesc, Gonzalez-Aramburu, Isabel, Sanchez Rodriguez, Antonio, Sierra, Maria, Menéndez-González, Manuel, Blazquez, Marta, García, Ciara, Suarez-San Martin, Esther, García-Ruiz, Pedro, Martínez-Castrillo, Juan Carlos, Vela-Desojo, Lydia, Ruz, Clara, Barrero Hernández, Francisco Javier, Escamilla-Sevilla, Francisco, Mínguez-Castellanos, Adolfo, Cerdan, Debora, Tabernero, Cesar, Gómez Heredia, Maria José, Pérez Errazquin, Francisco, Romero Acebal, Manuel, Feliz, Cici, Lopez-Sendon, Jose Luis, Mata, Marina, Martínez Torres, Irene, Kim, Jonggeol Jeffrey, Dalgard, Clifton L, Brooks, Janet, Saez- SaezAtienzar, Sara, Gibbs, J. Raphael, Jorda, Rafael, Botia, Juan A, Bonet-Ponce, Luis, Morrison, Karen E, Clarke, Carl, Tan, Manuela, Morris, Huw, Edsall, Connor, Hernandez, Dena, Simón-Sanchez, Javier, Nalls, Mike A, Scholz, Sonja W, Jimenez-Escrig, Adriano, Duarte, Jacinto, Vives Montero, Francisco, Durán Ogalla, Raquel, Hoenicka, Janet, Álvarez, Victoria, Infante, Jon, Marti, Maria Jose, Clarimón, Jordi, Lopez De Munain, Adolfo, Pastor, Pau, Singleton, Andrew
مصطلحات موضوعية: Age at onset, Parkinson’s disease, Polygenic risk score, Risk haplotype, Spanish population
Relation: Published version: Bandres-Ciga S, et al. International Parkinson Disease Genomics Consortium. The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight. Mov Disord. 2019 Dec;34(12):1851-1863. Epub 2019 Oct 29. PMID: 31660654; PMCID: PMC8393828. doi:10.1002/mds.27864; https://hdl.handle.net/10481/90874
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13Academic Journal
المؤلفون: Raha-Chowdhury, Ruma, Henderson, James W, Raha, Animesh Alexander, Vuono, Romina, Bickerton, Anastasia, Jones, Elizabeth, Fincham, Robert, Allinson, Kieren, Holland, Anthony, Zaman, Shahid H
مصطلحات موضوعية: Alzheimer’s disease, Down syndrome, TREM2, blood-CSF barrier, blood-brain barrier, choroid plexus, high-risk haplotype, neuroinflammation, tau trafficking, white matter tract
وصف الملف: application/pdf
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14Academic Journal
المؤلفون: Prüss, Harald, Gessner, Guido, Heinemann, Stefan H., Rüschendorf, Franz, Ruppert, Ann-Katrin, Schulz, Herbert, Sander, Thomas, Rimpau, Wilhelm
مصطلحات موضوعية: KCNQ1, LQT syndrome, familial epilepsy, genetic modifier, risk haplotype, ddc:610
وصف الملف: application/pdf
Relation: https://refubium.fu-berlin.de/handle/fub188/25151; http://dx.doi.org/10.17169/refubium-2906
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15
المؤلفون: Humberto García-Ortiz (3129330), Francisco Barajas-Olmos (3129315), Marlen Flores-Huacuja (14192986), Monserrat I. Morales-Rivera (14392608), Angélica Martínez-Hernández (586073), Vicente Baca (14392611), Cecilia Contreras-Cubas (733421), Lorena Orozco (180145)
مصطلحات موضوعية: Dermatology, Emergency Medicine, Gastroenterology and Hepatology, Geriatrics and Gerontology, Intensive Care, Medical Genetics (excl. Cancer Genetics), Nephrology and Urology, Nuclear Medicine, Orthopaedics, Otorhinolaryngology, Pathology (excl. Oral Pathology), Radiology and Organ Imaging, Foetal Development and Medicine, Obstetrics and Gynaecology, Family Care, Primary Health Care, Medical and Health Sciences not elsewhere classified, childhood-onset systemic lupus erythematosus, Xq28 risk haplotype, ancestry-dependent, IRAK1, MECP2
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16Academic Journal
المؤلفون: Jiao, Xiang, Aravidis, Christos, Marikkannu, Rajeshwari, Rantala, Johanna, Picelli, Simone, Adamovic, Tatjana, Liu, Tao, Maguire, Paula, Kremeyer, Barbara, Luo, Liping, Von Holst, Susanna, Kontham, Vinaykumar, Thutkawkorapin, Jessada, Margolin, Sara, Du, Quan, Lundin, Johanna, Michailidou, Kyriaki, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Lush, Michael, Ambrosone, Christine B., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Beckmann, Matthias W., Blomqvist, Carl, Blot, William, Boeckx, Bram, Bojesen, Stig E., Bonanni, Bernardo, Brand, Judith S., Brauch, Hiltrud, Brenner, Hermann, Broeks, Annegien, Bruning, Thomas, Burwinkel, Barbara, Cai, Qiuyin, Chang-Claude, Jenny, Couch, Fergus J., Cox, Angela, Cross, Simon S., Deming-Halverson, Sandra L., Devilee, Peter, dos-Santos-Silva, Isabel, Dork, Thilo, Eriksson, Mikael, Fasching, Peter A., Nevanlinna, Heli, NBCS Collaborators, kConFab-AOCS Investigators
المساهمون: Department of Oncology, Clinicum, University of Helsinki, HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, HUS Comprehensive Cancer Center
مصطلحات موضوعية: familial breast cancer, linkage analysis, risk haplotype, sequencing, DNA-SEQUENCING DATA, WIDE LINKAGE SCAN, GENOME, MUTATIONS, FAMILIES, GENE, ASSOCIATION, EXPRESSION, LOCALIZATION, DISCOVERY, Cancers, Gynaecology and paediatrics
وصف الملف: application/pdf
Relation: The study was supported by grants provided by the Swedish Cancer Society (Cancerfonden), the Stockholm County Council (ALF project), the Swedish Research Council (Vetenskapsradet), the Stockholm Cancer Society (Radiumhemsfonderna) and Bert von Kantzows and Nilsson-Ehle's foundations. BCAC is funded by Cancer Research UK (C1287/A16563, C1287/A10118), the European Union's Horizon 2020 Research and Innovation Programme (grant numbers 634935 and 633784 for BRIDGES and B-CAST respectively), and by the European Community's Seventh Framework Programme under grant agreement number 223175 (grant number HEALTH-F2-2009-223175) (COGS). Funding for the iCOGS infrastructure came from: the European Community's Seventh Framework Programme under grant agreement no 223175 (HEALTH-F2-2009-223175) (COGS), Cancer Research UK (C1287/A10118, C1287/A10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C8197/A16565), the National Institutes of Health (CA128978) and Post-Cancer GWAS initiative (1U19 CA148537, 1U19 CA148065 and 1U19 CA148112 - the GAME-ON initiative), the Department of Defence (W81XWH-10-1-0341), the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer, Komen Foundation for the Cure, the Breast Cancer Research Foundation, and the Ovarian Cancer Research Fund. Funding of individual BCAC studies is listed in the Supplemental Note.; Jiao , X , Aravidis , C , Marikkannu , R , Rantala , J , Picelli , S , Adamovic , T , Liu , T , Maguire , P , Kremeyer , B , Luo , L , Von Holst , S , Kontham , V , Thutkawkorapin , J , Margolin , S , Du , Q , Lundin , J , Michailidou , K , Bolla , M K , Wang , Q , Dennis , J , Lush , M , Ambrosone , C B , Andrulis , I L , Anton-Culver , H , Antonenkova , N N , Arndt , V , Beckmann , M W , Blomqvist , C , Blot , W , Boeckx , B , Bojesen , S E , Bonanni , B , Brand , J S , Brauch , H , Brenner , H , Broeks , A , Bruning , T , Burwinkel , B , Cai , Q , Chang-Claude , J , Couch , F J , Cox , A , Cross , S S , Deming-Halverson , S L , Devilee , P , dos-Santos-Silva , I , Dork , T , Eriksson , M , Fasching , P A , Nevanlinna , H , NBCS Collaborators & kConFab-AOCS Investigators 2017 , ' PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1 ' , Oncotarget , vol. 8 , no. 61 , pp. 102769-102782 . https://doi.org/10.18632/oncotarget.21800; http://hdl.handle.net/10138/232516; 50e98fd9-61b9-46ec-892d-48cbe5ec266b; 85035357496; 000419562500006
الاتاحة: http://hdl.handle.net/10138/232516
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17Academic Journal
المؤلفون: Rintala, A, Riikonen, I, Toivonen, A, Pietilä, S, Munukka, E, Pursiheimo, JP, Elo, LL, Arikoski, P, Luopajärvi, K, Schwab, U, Uusitupa, M, Heinonen, S, Savilahti, E, Eerola, E, Ilonen, J
المساهمون: School of Medicine / Clinical Medicine, School of Medicine / Clinical Nutrition
مصطلحات موضوعية: celiac disease, HLA risk haplotype, fecal microbiota, next-generation sequencing, 16S rRNA gene sequencing
وصف الملف: 403-409
Relation: SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY; http://dx.doi.org/10.1080/00365521.2018.1444788; 53; https://erepo.uef.fi/handle/123456789/6637
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18Academic Journal
المؤلفون: Jiao, X, Easton, DF
مصطلحات موضوعية: familial breast cancer, linkage analysis, risk haplotype, sequencing
وصف الملف: application/pdf
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19
المؤلفون: Mocci, Stefano
مصطلحات موضوعية: COVID-19, Neanderthal Covid-19 risk haplotype, rs35044562 variant, Sardinia
Relation: https://doi.org/10.5281/zenodo.6416857; https://doi.org/10.5281/zenodo.6416858; oai:zenodo.org:6416858
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20
المؤلفون: Stefano Mocci, Roberto Littera, Stefania Tranquilli, Aldesia Provenzano, Alessia Mascia, Federica Cannas, Sara Lai, Erika Giuressi, Luchino Chessa, Goffredo Angioni, Marcello Campagna, Davide Firinu, Maria Del Zompo, Giorgio La Nasa, Andrea Perra, Sabrina Giglio
مصطلحات موضوعية: Immunology, Applied Immunology (incl. Antibody Engineering, Xenotransplantation and T-cell Therapies), Autoimmunity, Cellular Immunology, Humoural Immunology and Immunochemistry, Immunogenetics (incl. Genetic Immunology), Innate Immunity, Transplantation Immunology, Tumour Immunology, Immunology not elsewhere classified, Genetic Immunology, Animal Immunology, Veterinary Immunology, COVID-19, SARS-CoV-2, Neanderthal Covid-19 risk haplotype, rs35044562 variant, HLA-A*02:01, B*18:01, DRB*03 extended haplotype