Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 41 Records) |
Query Trace: ANK1[original query] |
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Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing. International journal of laboratory hematology 2016 Jul . Del Orbe Barreto R, Arrizabalaga B, De la Hoz A B, García-Orad Á, Tejada M I, Garcia-Ruiz J C, Fidalgo T, Bento C, Manco L, Ribeiro M |
A novel type 2 diabetes risk allele increases the promoter activity of the muscle-specific small ankyrin 1 gene. Scientific reports 2016 6 25105. Yan Rengna, Lai Shanshan, Yang Yang, Shi Hongfei, Cai Zhenming, Sorrentino Vincenzo, Du Hong, Chen Huim |
Association of ANK1 variants with new-onset type 2 diabetes in a Han Chinese population from northeast China. Experimental and therapeutic medicine 2017 Oct 14 (4): 3184-3190. Sun Lulu, Zhang Xuelong, Wang Tongtong, Chen Meijun, Qiao Ho |
Tokyo-1 Mutation: Hereditary Spherocytosis in a Hispanic Newborn Presenting as Early Onset Severe Hyperbilirubinemia. Fetal and pediatric pathology 2018 9 37 (4): 296-300. Tan April W, Leung Pablo, Patil Uday |
Genetic determinants of glycated hemoglobin levels in the Greenlandic Inuit population.
European journal of human genetics : EJHG 2018 Feb . Appel Emil V R, Moltke Ida, Jørgensen Marit E, Bjerregaard Peter, Linneberg Allan, Pedersen Oluf, Albrechtsen Anders, Hansen Torben, Grarup Nie |
[Clinical manifestations of erythrocyte membrane protein coding gene mutations in hereditary spherocytosis]. Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2018 11 39 (11): 912-916. Sun X J, Li H Y, Li D P, Liu Y Z, Zhang J Y, Yin Y K, Su M H, Pan H, Li Q L, Hu B, Liu H, Shi |
[The characteristic of hereditary spherocytosis related gene mutation in 37 Chinese hereditary spherocytisis patients]. Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2018 11 39 (11): 898-903. Peng G X, Yang W R, Zhao X, Jin L P, Zhang L, Zhou K, Li Y, Ye L, Li Y, Li J P, Fan H H, Song L, Yang Y, Xiong Y Z, Wu Z J, Wang H J, Zhang F |
Whole-exome sequencing for the genetic diagnosis of congenital red blood cell membrane disorders in Taiwan. Clinica chimica acta; international journal of clinical chemistry 2018 Dec 487 311-317. Lin Pei-Chin, Chiou Shyh-Shin, Lin Chien-Yu, Wang Shu-Chen, Huang Hsi-Yuan, Chang Ya-Sian, Tseng Yu-Hsin, Kan Tzu-Min, Liao Yu-Mei, Tsai Shih-Pien, Peng Ching-Tien, Chang Jan-Gow |
Clinical utility of targeted gene enrichment and sequencing technique in the diagnosis of adult hereditary spherocytosis. Annals of translational medicine 2019 12 7 (20): 527. Xue Jun, He Qing, Xie Xiaojing, Su Ailing, Cao Shib |
Integrated Multiomics Approach to Identify Genetic Underpinnings of Heart Failure and Its Echocardiographic Precursors: Framingham Heart Study. Circulation. Genomic and precision medicine 2019 11 12 (12): e002489. Andersson Charlotte, Lin Honghuang, Liu Chunyu, Levy Daniel, Mitchell Gary F, Larson Martin G, Vasan Ramachandran |
The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients: Genotype-Phenotype Correlation in Hereditary Spherocytosis. HemaSphere 2019 11 3 (4): e276. van Vuren Annelies, van der Zwaag Bert, Huisjes Rick, Lak Nathalie, Bierings Marc, Gerritsen Egbert, van Beers Eduard, Bartels Marije, van Wijk Richa |
Identification of type 2 diabetes loci in 433,540 East Asian individuals.
Nature 2020 06 582 (7811): 240-245. Spracklen Cassandra N, Horikoshi Momoko, Kim Young Jin, Lin Kuang, Bragg Fiona, Moon Sanghoon, Suzuki Ken, Tam Claudia H T, Tabara Yasuharu, Kwak Soo-Heon, Takeuchi Fumihiko, Long Jirong, Lim Victor J Y, Chai Jin-Fang, Chen Chien-Hsiun, Nakatochi Masahiro, Yao Jie, Choi Hyeok Sun, Iyengar Apoorva K, Perrin Hannah J, Brotman Sarah M, van de Bunt Martijn, Gloyn Anna L, Below Jennifer E, Boehnke Michael, Bowden Donald W, Chambers John C, Mahajan Anubha, McCarthy Mark I, Ng Maggie C Y, Petty Lauren E, Zhang Weihua, Morris Andrew P, Adair Linda S, Akiyama Masato, Bian Zheng, Chan Juliana C N, Chang Li-Ching, Chee Miao-Li, Chen Yii-Der Ida, Chen Yuan-Tsong, Chen Zhengming, Chuang Lee-Ming, Du Shufa, Gordon-Larsen Penny, Gross Myron, Guo Xiuqing, Guo Yu, Han Sohee, Howard Annie-Green, Huang Wei, Hung Yi-Jen, Hwang Mi Yeong, Hwu Chii-Min, Ichihara Sahoko, Isono Masato, Jang Hye-Mi, Jiang Guozhi, Jonas Jost B, Kamatani Yoichiro, Katsuya Tomohiro, Kawaguchi Takahisa, Khor Chiea-Chuen, Kohara Katsuhiko, Lee Myung-Shik, Lee Nanette R, Li Liming, Liu Jianjun, Luk Andrea O, Lv Jun, Okada Yukinori, Pereira Mark A, Sabanayagam Charumathi, Shi Jinxiu, Shin Dong Mun, So Wing Yee, Takahashi Atsushi, Tomlinson Brian, Tsai Fuu-Jen, van Dam Rob M, Xiang Yong-Bing, Yamamoto Ken, Yamauchi Toshimasa, Yoon Kyungheon, Yu Canqing, Yuan Jian-Min, Zhang Liang, Zheng Wei, Igase Michiya, Cho Yoon Shin, Rotter Jerome I, Wang Ya-Xing, Sheu Wayne H H, Yokota Mitsuhiro, Wu Jer-Yuarn, Cheng Ching-Yu, Wong Tien-Yin, Shu Xiao-Ou, Kato Norihiro, Park Kyong-Soo, Tai E-Shyong, Matsuda Fumihiko, Koh Woon-Puay, Ma Ronald C W, Maeda Shiro, Millwood Iona Y, Lee Juyoung, Kadowaki Takashi, Walters Robin G, Kim Bong-Jo, Mohlke Karen L, Sim Xueli |
A Replication Study Identified Seven SNPs Associated with Quantitative Traits of Type 2 Diabetes among Chinese Population in A Cross-Sectional Study. International journal of environmental research and public health 2020 Apr 17 (7): . Yuan Fan, Li Hui, Song Chao, Fang Hongyun, Wang Rui, Zhang Yan, Gong Weiyan, Liu Aili |
Genetic and Clinical Characteristics of Patients With Hereditary Spherocytosis in Hubei Province of China. Frontiers in genetics 2020 10 11 953. Wang Xiong, Zhang Ai, Huang Ming, Chen Li, Hu Qun, Lu Yanjun, Cheng Limi |
Identification of new mutations in patients with hereditary spherocytosis by next-generation sequencing. Journal of human genetics 2020 1 65 (4): 427-434. Qin Li, Nie Yanbo, Zhang Hong, Chen Long, Zhang Donglei, Lin Yani, Ru K |
Severe hyperbilirubinemia in a neonate with hereditary spherocytosis due to a de novo ankyrin mutation: A case report. World journal of clinical cases 2021 7 9 (19): 5245-5251. Wang Jun-Fang, Ma Li, Gong Xiao-Hui, Cai Cheng, Sun Jing-Ji |
The updated beta-spectrin mutations in patients with hereditary spherocytosis by targeted next-generation sequencing. Journal of human genetics 2021 6 66 (12): 1153-1158. Fan Junjie, Yao Lilan, Lu Daru, Yao Yanhua, Sun Yina, Tian Yafei, Mou Li, Chen Linbo, Zhao Letian, Qiao Shenglong, Hu Shaoyan, Zhu Yiji |
Multiple-ancestry genome-wide association study identifies 27 loci associated with measures of hemolysis following blood storage.
The Journal of clinical investigation 2021 May . Page Grier P, Kanias Tamir, Guo Yuelong J, Lanteri Marion C, Zhang Xu, Mast Alan E, Cable Ritchard G, Spencer Bryan R, Kiss Joseph E, Fang Fang, Endres-Dighe Stacy M, Brambilla Donald, Nouraie Mehdi, Gordeuk Victor R, Kleinman Steve, Busch Michael P, Gladwin Mark T, |
Preliminary Study on the Clinical and Genetic Characteristics of Hereditary Spherocytosis in 15 Chinese Children. Frontiers in genetics 2021 4 12 652376. Wu Chongjun, Xiong Ting, Xu Zhongjin, Zhan Chunlei, Chen Feng, Ye Yao, Wang Hong, Yang |
Literature review on genotype-phenotype correlation in patients with hereditary spherocytosis. Clinical genetics 2022 Sep . Yang Liqing, Shu Huiying, Zhou Min, Gong Yupi |
Comprehensive characterization of clonality of driver genes revealing their clinical relevance in colorectal cancer. Journal of translational medicine 2022 8 20 (1): 362. Shi Jian, Wang Li, Yin Xiangzhe, Wang Lixia, Bo Lin, Liu Kailai, Feng Ke, Lin Shihua, Xu Yanjun, Ning Shangwei, Zhao Hongyi |
Whole-exome sequencing uncovered genetic diagnosis of severe inherited haemolytic anaemia: Correlation with clinical phenotypes. British journal of haematology 2022 7 198 (6): 1051-1064. Songdej Duantida, Kadegasem Praguywan, Tangbubpha Noppawan, Sasanakul Werasak, Deelertthaweesap Bhurichaya, Chuansumrit Ampaiwan, Sirachainan Nongnu |
Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis. Genetic testing and molecular biomarkers 2022 5 26 (5): 270-276. Herrera-Tirado Isis Mariela, Espinoza-Mata Laura Lucia, Rizo-delaTorre Lourdes Del Carmen, Becerra-Solano Luis Eduardo, Ibarra-Cortés Bertha, Perea-Díaz Francisco Javi |
The SNP rs516946 Interacted in the Association of MetS with Dietary Iron among Chinese Males but Not Females. Nutrients 2022 May 14 (10): . Zhu Zhenni, Wang Zhengyuan, Zang Jiajie, Lu Ye, Xiao Ziyi, Zheng Guangyong, Wu F |
Analysis of MRI-derived spleen iron in the UK Biobank identifies genetic variation linked to iron homeostasis and hemolysis.
American journal of human genetics 2022 5 109 (6): 1092-1104. Sorokin Elena P, Basty Nicolas, Whitcher Brandon, Liu Yi, Bell Jimmy D, Cohen Robert L, Cule Madeleine, Thomas E Loui |
Genetic Factors Associated with Suicidal Behaviors and Alcohol Use Disorders in an American Indian Population. Research square 2023 7 . David Gilder, Rebecca Bernert, Katherine Karriker-Jaffe, Cindy Ehlers, Qian Pe |
Genotype-degree of hemolysis correlation in hereditary spherocytosis. BMC genomics 2023 6 24 (1): 304. Yimeng Shi, Yuan Li, Xiawan Yang, Xiaoxia Li, Guangxin Peng, Xin Zhao, Xu Liu, Yufei Zhao, Jing Hu, Xiangrong Hu, Baohang Zhang, Kang Zhou, Yang Yang, Youzhen Xiong, Jianping Li, Huihui Fan, Wenrui Yang, Lei Ye, Liping Jing, Li Zhang, Fengkui Zha |
Molecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry. Annals of hematology 2023 11 . Duantida Songdej, Pacharapan Surapolchai, Patcharee Komwilaisak, Pornpun Sripornsawan, Supanun Lauhasurayotin, Nattiya Teawtrakul, Tarinee Rungjirajittranon, Adisak Tantiworawit, Phakatip Sinlapamongkolkul, Kitti Torcharus, Pranee Sutcharitchan, Bunchoo Pongtanakul, Nongnuch Sirachainan, Pimlak Charoenkw |
Genetic factors associated with suicidal behaviors and alcohol use disorders in an American Indian population. Molecular psychiatry 2024 1 . Qian Peng, David A Gilder, Rebecca A Bernert, Katherine J Karriker-Jaffe, Cindy L Ehle |
Impact of polygenic score for BMI on weight loss effectiveness and genome-wide association analysis. International journal of obesity (2005) 2024 1 . Hassan S Dashti, Frank A J L Scheer, Richa Saxena, Marta Garaul |
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- Page last updated:Apr 16, 2024
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