Human Genome Epidemiology Literature Finder
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Whole-Exome Sequencing Identifies Pathogenic Germline Variants in Patients with Lynch-Like Syndrome. Cancers 2022 9 14 (17): . Dos Santos Wellington, de Andrade Edilene Santos, Garcia Felipe Antonio de Oliveira, Campacci Natália, Sábato Cristina da Silva, Melendez Matias Eliseo, Reis Rui Manuel, Galvão Henrique de Campos Reis, Palmero Edenir In |
Association between nitric oxide synthase 3 genetic variant and acute kidney injury following pediatric cardiac surgery. American heart journal 2022 8 254 57-65. Kikano Sandra, Breeyear Joseph, Aka Ida, Edwards Todd L, Van Driest Sara L, Kannankeril Prince |
Genotype-phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry. Journal of hematology & oncology 2022 8 15 (1): 107. Penkert Judith, Strüwe Farina J, Dutzmann Christina M, Doergeloh Beate B, Montellier Emilie, Freycon Claire, Keymling Myriam, Schlemmer Heinz-Peter, Sänger Birte, Hoffmann Beatrice, Gerasimov Tanja, Blattmann Claudia, Fetscher Sebastian, Frühwald Michael, Hettmer Simone, Kordes Uwe, Ridola Vita, Kroiss Benninger Sabine, Mastronuzzi Angela, Schott Sarah, Nees Juliane, Prokop Aram, Redlich Antje, Seidel Markus G, Zimmermann Stefanie, Pajtler Kristian W, Pfister Stefan M, Hainaut Pierre, Kratz Christian |
A meta-analysis of the association of ApaI, BsmI, FokI, and TaqI polymorphisms in the vitamin D receptor gene with the risk of polycystic ovary syndrome in the Eastern Mediterranean Regional Office population. International journal of reproductive biomedicine 2022 Jun 20 (6): 433-446. Shahmoradi Arvin, Aghaei Abbas, Ghaderi Kimya, Jafar Rezaei Mohammad, Azarnezhad Asa |
The association of apolipoprotein E (ApoE) genotype and cognitive outcomes in multiple sclerosis; a systematic review and meta-analysis. Multiple sclerosis and related disorders 2022 7 65 104011. Naseri Amirreza, Baghernezhad Kosar, Seyedi-Sahebari Sepideh, Alhoseini Seyed Ardalan, Gholipour-Khalili Elnaz, Zafarani Fatemeh, Talebi Mahn |
Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome. Annals of laboratory medicine 2022 Nov 42 (6): 668-677. Kim Hwa Young, Shin Choong Ho, Lee Young Ah, Shin Chang Ho, Kim Gu-Hwan, Ko Jung M |
TP53 Pathogenic Variants in Early-Onset Breast Cancer Patients Fulfilling Hereditary Breast and Ovary Cancer and Li-Fraumeni-like Syndromes. Biomolecules 2022 5 12 (5): . da Silva Paula Francinete Faustino, Goveia Rebeca Mota, Teixeira Thaís Bomfim, Gamba Bruno Faulin, de Lima Aliny Pereira, Rogatto Sílvia Regina, Silveira-Lacerda Elisângela de Pau |
Associations of HLA genetic variants with carbamazepine-induced cutaneous adverse drug reactions: An updated meta-analysis. Clinical and translational science 2022 May . Biswas Mohitosh, Ershadian Maliheh, Shobana John, Nguyen Ai-Hoc, Sukasem Chonlaph |
Next-Generation Sequencing Analysis of MVK, NLRP3, TNFRSF1A, and PSTPIP1 Genes in Patients without MEFV Gene Variation and Genotype-Phenotype Correlation. European journal of rheumatology 2022 5 9 (2): 62-67. Vuran Gamze, Berdeli Af |
High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations. European journal of human genetics : EJHG 2022 12 . Belanger Deloge Raymond, Zhao Xiaonan, Luna Pamela N, Shaw Chad A, Rosenfeld Jill A, Scott Daryl |
Functional connectivity response to acute pain assessed by fNIRS is associated with BDNF genotype in fibromyalgia: an exploratory study. Scientific reports 2022 11 12 (1): 18831. de Oliveira Franco Álvaro, de Oliveira Venturini Guilherme, da Silveira Alves Camila Fernanda, Alves Rael Lopes, Vicuña Paul, Ramalho Leticia, Tomedi Rafaela, Bruck Samara Machado, Torres Iraci L S, Fregni Felipe, Caumo Woln |
The inconsistent mediating effect of catechol O methyl transferase ValMet polymorphism on the sex difference of cognitive impairment in schizophrenia patients. Frontiers in psychiatry 2022 10 13 993859. Xu Hang, Zhou Yongjie, Xiu Meihong, Chen Dachun, Wang Weiwen, Wang Li, Zhang Xiangya |
Patterns of DNA mismatch repair protein expression for primary and recurrent colorectal cancer at an advanced surgical unit: A retrospective audit. Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland 2022 10 . Risbey Charles, Fielder Timothy, Steffens Daniel, Shin Joo-Shik, Solomon Micha |
Pharmacokinetics, Safety, and Tolerability of Cariprazine in Pediatric Patients with Bipolar I Disorder or Schizophrenia. Journal of child and adolescent psychopharmacology 2022 10 32 (8): 434-443. Riccobene Todd, Riesenberg Robert, Yeung Paul P, Earley Willie R, Hankinson Arlene |
Predictors of Chronic Fatigue Syndrome and Mood Disturbance After Acute Infection. Frontiers in neurology 2022 13 935442. Sandler Carolina X, Cvejic Erin, Valencia Braulio M, Li Hui, Hickie Ian B, Lloyd Andrew |
Relationship between IL-17A gene polymorphism and susceptibility to Kawasaki disease. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2023 9 48 (7): 986-994. Yeyi Yang, Xin Liu, Rui Liu, Lin Shen, Zhuoying Li, Zuocheng Ya |
Genotype-phenotype correlation of WT1 mutation-related nephropathy in Chinese children. Frontiers in pediatrics 2023 8 11 1192021. Huanru Chen, Miao Zhang, Jinai Lin, Jieyi Lu, Fazhan Zhong, Fu Zhong, Xia Gao, Xin Li |
Atrial Abnormalities in Brugada Syndrome: Evaluation With ECG Imaging. JACC. Clinical electrophysiology 2023 8 . Antonio Bisignani, Luigi Pannone, Alvise Del Monte, Ivan Eltsov, Ida Anna Cappello, Juan Sieira, Cinzia Monaco, Gezim Bala, Sahar Mouram, Domenico Giovanni Della Rocca, Erwin Ströker, Ingrid Overeinder, Alexandre Almorad, Gudrun Pappaert, Anaïs Gauthey, Thomy de Ravel, Sonia Van Dooren, Antonio Sorgente, Mark La Meir, Andrea Sarkozy, Pedro Brugada, Gian-Battista Chierchia, Carlo de Asmund |
The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes. Scientific reports 2023 6 13 (1): 9127. Yating Li, Siqian Gong, Meng Li, Xiaoling Cai, Wei Liu, Simin Zhang, Yumin Ma, Yingying Luo, Lingli Zhou, Xiuying Zhang, Xiuting Huang, Xueying Gao, Mengdie Hu, Yufeng Li, Qian Ren, Yanai Wang, Xianghai Zhou, Xueyao Han, Linong |
[Irritable bowel syndrome phenotypes: leading factors of genetics and epigenetics, mechanisms of formation]. Terapevticheskii arkhiv 2023 5 95 (2): 164-172. O V Gaus, M A Livz |
Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial. Nature medicine 2023 3 . Rosenson Robert S, Gaudet Daniel, Ballantyne Christie M, Baum Seth J, Bergeron Jean, Kershaw Erin E, Moriarty Patrick M, Rubba Paolo, Whitcomb David C, Banerjee Poulabi, Gewitz Andrew, Gonzaga-Jauregui Claudia, McGinniss Jennifer, Ponda Manish P, Pordy Robert, Zhao Jian, Rader Daniel |
Analyses of familial chylomicronemia syndrome in Pereira, Colombia 2010-2020: a cross-sectional study. Lipids in health and disease 2023 3 22 (1): 43. Rodriguez Franklin Hanna, Estrada Jorge Mario, Quintero Henry Mauricio Arenas, Nogueira Juan Patricio, Porras-Hurtado Gloria Lilia |
Estimating the causal effects of genetically predicted plasma proteome on heart failure. Frontiers in cardiovascular medicine 2023 3 10 978918. Yang Jian, Yan Bin, Zhang Haoxuan, Lu Qun, Yang Lihong, Liu Ping, Bai Li |
A Systematic Review and Meta-Analysis of the Rate and Risk Factors for Post-transplant Disease Recurrence in Children With Steroid Resistant Nephrotic Syndrome. Kidney international reports 2023 2 8 (2): 254-264. Morello William, Proverbio Emanuele, Puccio Giuseppe, Montini Giovan |
Prevalence of Variants of Uncertain Significance in Patients Undergoing Genetic Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome. Cancers 2023 12 15 (24): . Pavlina Chrysafi, Chinmay T Jani, Margaret Lotz, Omar Al Omari, Harpreet Singh, Katherine Stafford, Lipisha Agarwal, Arashdeep Rupal, Abdul Qadir Dar, Abby Dangelo, Prudence L |
Individual effects of GSTM1 and GSTT1 polymorphisms on the risk of polycystic ovarian syndrome: A systematic review and meta-analysis. Turkish journal of obstetrics and gynecology 2023 12 20 (4): 314-319. Masoud Hassanzadeh Makoui, Shiva Fekri, Reza Hassanzadeh Makoui, Negar Ansa |
A Randomized Controlled Trial of Precision Nutrition Counseling for Service Members at Risk for Metabolic Syndrome. Military medicine 2023 11 188 (Supplement_6): 606-613. Mary S McCarthy, Zachary T Colburn, Ka Yee Yeung, Laurel H Gillette, Ling-Hong Hung, Evelyn Elsh |
Hereditary cancer testing in a diverse sample across three breast imaging centers. Breast cancer research and treatment 2023 10 . Laura Westbrook, Darlene Miltenburg, Vivienne Souter, Melissa K Maisenbacher, Katherine L Howard, Youbao Sha, Maygol Yavari, Nicholas Kypraios, Angel Rodriguez, Jeffrey N Weitz |
Impact of variant subtype on electro-clinical phenotype of Dravet syndrome- a South Indian cohort study. Seizure 2024 1 115 81-86. S Krishna, Alfiya Fasaludeen, Manna Jose, Moinak Banerjee, Soumya Sundaram, Ashalatha Radhakrishnan, Ramshekhar N Men |
A Genome-Wide Association Study of Metabolic Syndrome in the Taiwanese Population. Nutrients 2024 1 16 (1): . Chih-Yi Ho, Jia-In Lee, Shu-Pin Huang, Szu-Chia Chen, Jiun-Hung Ge |
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- Page last updated:May 06, 2024
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