Human Genome Epidemiology Literature Finder
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Records 1 - 19 (of 19 Records) |
| Query Trace: Disease and IDS[original query] |
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| Transforming growth factor-beta 1 gene polymorphisms and cardiovascular disease in hemodialysis patients. Kidney international 2004 Jul 66 (1): 419-27. Rao Madhumathi, Guo Daqing, Jaber Bertrand L, Tighiouart Hocine, Pereira Brian J G, Balakrishnan Vaidyanathapuram S, |
| Pyrosequencing of polymorphisms in the COX-2 gene (PTGS2) with reported clinical relevance. Pharmacogenomics 2007 Dec 8 (12): 1643-60. Skarke Carsten, Schuss Patrick, Kirchhof Anja, Doehring Alexandra, Geisslinger Gerd, Lötsch Jö |
| Clock-cancer connection in non-Hodgkin's lymphoma: a genetic association study and pathway analysis of the circadian gene cryptochrome 2. Cancer research 2009 Mar . Hoffman AE, Zheng T, Stevens RG, Ba Y, Zhang Y, Leaderer D, Yi C, Holford TR, Zhu Y |
| Evaluation of X-Chromosome Inactivation Patterns in Patients with Acute Myeloid Leukemia during Remission. ISRN hematology 2012 2012 . Mortazavi Y, Kaviani S, Mirzamohammadi F, Alimoghaddam K, Pourfathollah AA, Salehi O |
| Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients. Molecular genetics and metabolism 2014 Feb 111 (2): 133-8. Brusius-Facchin A C, Schwartz I V D, Zimmer C, Ribeiro M G, Acosta A X, Horovitz D, Monlleó I L, Fontes M I B, Fett-Conte A, Sobrinho R P Oliveira, Duarte A R, Boy R, Mabe P, Ascurra M, de Michelena M, Tylee K L, Besley G T N, Garreton M C V, Giugliani R, Leistner-Segal |
| TP53 K351N mutation-associated platinum resistance after neoadjuvant chemotherapy in patients with advanced ovarian cancer. Gynecologic oncology 2014 Mar 132 (3): 752-7. Zhang Guo-nan, Liu Hong, Huang Jian-ming, Wang Ling, Zhao Jing-sha, Li Chao, Mi Kun, Zhu Yi, Cheng Jia, Zha Xi |
| Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series. Clinica chimica acta; international journal of clinical chemistry 2017 8 474 88-95. Yassaee Vahid Reza, Hashemi-Gorji Feyzollah, Miryounesi Mohammad, Rezayi Alireza, Ravesh Zeinab, Yassaee Fakhrolmolouk, Salehpour Shad |
| A novel method for high precision aortic constriction that allows for generation of specific cardiac phenotypes in mice. Cardiovascular research 2018 6 114 (12): 1680-1690. Melleby Arne O, Romaine Andreas, Aronsen Jan Magnus, Veras Ioanni, Zhang Lili, Sjaastad Ivar, Lunde Ida G, Christensen Ge |
| Proteomics in cerebrospinal fluid and spinal cord suggests UCHL1, MAP2 and GPNMB as biomarkers and underpins importance of transcriptional pathways in amyotrophic lateral sclerosis. Acta neuropathologica 2019 11 139 (1): 119-134. Oeckl Patrick, Weydt Patrick, Thal Dietmar R, Weishaupt Jochen H, Ludolph Albert C, Otto Mark |
| MosaicBase: A Knowledgebase of Postzygotic Mosaic Variants in Noncancer Disease-related and Healthy Human Individuals. Genomics, proteomics & bioinformatics 2020 9 18 (2): 140-149. Yang Xiaoxu, Yang Changhong, Zheng Xianing, Xiong Luoxing, Tao Yutian, Wang Meng, Ye Adam Yongxin, Wu Qixi, Dou Yanmei, Luo Junyu, Wei Liping, Huang August Y |
| A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase. Molecular genetics and metabolism reports 2020 12 25 100692. Fukuhara Yasuyuki, Miura Ai, Yamazaki Narutoshi, So Tetsumin, Kosuga Motomichi, Yanagi Kumiko, Kaname Tadashi, Yamagata Takanori, Sakuraba Hitoshi, Okuyama Torayu |
| Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome. American journal of medical genetics. Part C, Seminars in medical genetics 2021 5 187 (3): 349-356. Josahkian Juliana Alves, Brusius-Facchin Ana Carolina, Netto Alice Brinckmann Oliveira, Leistner-Segal Sandra, Málaga Diana Rojas, Burin Maira Graeff, Michelin-Tirelli Kristiane, Trapp Franciele Barbosa, Cardoso-Dos-Santos Augusto César, Ribeiro Erlane Marques, Kim Chong Ae, de Siqueira Ana Cecília Menezes, Santos Mara Lucia, do Valle Daniel Almeida, da Silva Raquel Tavares Boy, Horovitz Dafne Dain Gandelman, de Medeiros Paula Frassinetti Vasconcelos, de Souza Carolina Fischinger Moura, Giuliani Liane de Rosso, Miguel Diego Santana Chaves Geraldo, Santana-da-Silva Luiz Carlos, Galera Marcial Francis, Giugliani Rober |
| Exome Sequencing IDs Hidden Disease Variants. Cancer discovery 2021 Nov . Authors are not available |
| Long-Term Outcome of a Series of Patients With Narcolepsy Type 1 and Comorbidity With Immunopathological and Autoimmune Diseases. Journal of clinical medicine research 2022 9 14 (8): 309-314. Martinez-Orozco Francisco J, Fernandez-Arquero Miguel, Vicario Jose L, Lillo-Triguero Laura, Ameyugo Elena, Peraita-Adrados Ro |
| Impact of the time interval between primary or interval surgery and adjuvant chemotherapy in ovarian cancer patients. Frontiers in oncology 2023 9 13 1221096. Alberto Farolfi, Elisabetta Petracci, Giorgia Gurioli, Gianluca Tedaldi, Claudia Casanova, Valentina Arcangeli, Andrea Amadori, Marta Rosati, Marco Stefanetti, Salvatore Luca Burgio, Maria Concetta Cursano, Cristian Lolli, Valentina Zampiga, Ilaria Cangini, Giuseppe Schepisi, Ugo De Gior |
The power of TOPMed imputation for the discovery of Latino-enriched rare variants associated with type 2 diabetes.
Diabetologia 2023 5 . Alicia Huerta-Chagoya, Philip Schroeder, Ravi Mandla, Aaron J Deutsch, Wanying Zhu, Lauren Petty, Xiaoyan Yi, Joanne B Cole, Miriam S Udler, Peter Dornbos, Bianca Porneala, Daniel DiCorpo, Ching-Ti Liu, Josephine H Li, Lukasz Szczerbi?ski, Varinderpal Kaur, Joohyun Kim, Yingchang Lu, Alicia Martin, Decio L Eizirik, Piero Marchetti, Lorella Marselli, Ling Chen, Shylaja Srinivasan, Jennifer Todd, Jason Flannick, Rose Gubitosi-Klug, Lynne Levitsky, Rachana Shah, Megan Kelsey, Brian Burke, Dana M Dabelea, Jasmin Divers, Santica Marcovina, Lauren Stalbow, Ruth J F Loos, Burcu F Darst, Charles Kooperberg, Laura M Raffield, Christopher Haiman, Quan Sun, Joseph B McCormick, Susan P Fisher-Hoch, Maria L Ordoñez, James Meigs, Leslie J Baier, Clicerio González-Villalpando, Maria Elena González-Villalpando, Lorena Orozco, Lourdes García-García, Andrés Moreno-Estrada, , Carlos A Aguilar-Salinas, Teresa Tusié, Josée Dupuis, Maggie C Y Ng, Alisa Manning, Heather M Highland, Miriam Cnop, Robert Hanson, Jennifer Below, Jose C Florez, Aaron Leong, Josep M Mercad |
| Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study. Clinical genetics 2023 3 . Zhong Lin, Gao Xiaolan, Wang Yu, Qiu Wenjuan, Han Lianshu, Gu Xuefan, Zhang Huiw |
| Non-invasive fetal genotyping for maternal alleles with droplet digital PCR: A comparative study of analytical approaches. Prenatal diagnosis 2023 2 . Shaw Joe, Scotchman Elizabeth, Paternoster Ben, Ramos Maureen, Nesbitt Sarah, Sheppard Sophie, Snowsill Tristan, Chitty Lyn S, Chandler Natal |
| Assessing the causal effects of Eubacterium and Rumphococcus on constipation: a Mendelian randomized study. Frontiers in microbiology 2024 8 15 1376232. Xiao Zhang, Jiang Chen, Feng He, Wenchun Du, Xianhao |
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