Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 39 Records) |
Query Trace: SPTA1[original query] |
---|
Altered erythrocyte membrane protein composition mirrors pleiotropic effects of hypertension susceptibility genes and disease pathogenesis. Journal of hypertension 2015 Sep . Polonikov Alexey V, Ushachev Dmitry V, Ivanov Vladimir P, Churnosov Mikhail I, Freidin Maxim B, Ataman Alexander V, Harbuzova Victoria Yu, Bykanova Marina A, Bushueva Olga Yu, Solodilova Maria |
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis. Blood cells, molecules & diseases 2016 Oct 61 4-9. Niss Omar, Chonat Satheesh, Dagaonkar Neha, Almansoori Marya O, Kerr Karol, Rogers Zora R, McGann Patrick T, Quarmyne Maa-Ohui, Risinger Mary, Zhang Kejian, Kalfa Theodosia |
Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis. Clinical genetics 2016 Feb . Park Joonhong, Jeong Dae-Chul, Yoo Jaeeun, Jang Woori, Chae Hyojin, Kim Jiyeon, Kwon Ahlm, Choi Hayoung, Lee Jae-Wook, Chung Nack-Gyun, Kim Myungshin, Kim Yongg |
Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans.
Human molecular genetics 2016 Aug . Evans Daniel S, Avery Christy L, Nalls Mike A, Li Guo, Barnard John, Smith Erin N, Tanaka Toshiko, Butler Anne M, Buxbaum Sarah G, Alonso Alvaro, Arking Dan E, Berenson Gerald S, Bis Joshua C, Buyske Steven, Carty Cara L, Chen Wei, Chung Mina K, Cummings Steven R, Deo Rajat, Eaton Charles B, Fox Ervin R, Heckbert Susan R, Heiss Gerardo, Hindorff Lucia A, Hsueh Wen-Chi, Isaacs Aaron, Jamshidi Yalda, Kerr Kathleen F, Liu Felix, Liu Yongmei, Lohman Kurt K, Magnani Jared W, Maher Joseph F, Mehra Reena, Meng Yan A, Musani Solomon K, Newton-Cheh Christopher, North Kari E, Psaty Bruce M, Redline Susan, Rotter Jerome I, Schnabel Renate B, Schork Nicholas J, Shohet Ralph V, Singleton Andrew B, Smith Jonathan D, Soliman Elsayed Z, Srinivasan Sathanur R, Taylor Herman A, Van Wagoner David R, Wilson James G, Young Taylor, Zhang Zhu-Ming, Zonderman Alan B, Evans Michele K, Ferrucci Luigi, Murray Sarah S, Tranah Gregory J, Whitsel Eric A, Reiner Alex P, , Sotoodehnia No |
Three Novel Spectrin Variants in Jaundiced Neonates. Clinical pediatrics 2017 1 57 (1): 19-26. Christensen Robert D, Agarwal Archana M, Yaish Hassan M, Reading N Scott, O'Brien Elizabeth A, Prchal Josef |
Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis. Molecular medicine reports 2018 2 17 (4): 5903-5911. Ma Shiyue, Qin Jinqiu, Wei Aiqiu, Li Xiaohong, Qin Yuanyuan, Liao Lin, Lin Faqu |
[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 |
Integrative analysis of cancer driver genes in prostate adenocarcinoma. Molecular medicine reports 2019 Jan . Zhao Xin, Lei Yi, Li Ge, Cheng Yong, Yang Haifan, Xie Libo, Long Hao, Jiang R |
Identifying Mutually Exclusive Gene Sets with Prognostic Value and Novel Potential Driver Genes in Patients with Glioblastoma. BioMed research international 2019 12 2019 4860367. Gao Qian, Cui Yan, Shen Yanan, Li Yanyan, Gao Xue, Xi Yanfeng, Wang To |
Next-generation sequencing identified somatic alterations that may underlie the etiology of Chinese papillary thyroid carcinoma. European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) 2019 Nov . Yang Chuanjia, Gong Jian, Xu Weixue, Liu Zhen, Cui Dong |
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 |
Co-occurrent Alterations of Alzheimer's Genes and Prostate Cancer Genes in Prostate Cancer. Cancer genomics & proteomics 0 17 (3): 271-275. Lehrer Steven, Rheinstein Peter |
Differences in Genomic Alterations Between Brain Metastases and Primary Tumors. Neurosurgery 2020 Dec . Dono Antonio, Takayasu Takeshi, Yan Yuanqing, Bundrant Bethany E, Arevalo Octavio, Lopez-Garcia Carlos A, Esquenazi Yoshua, Ballester Leomar |
Hereditary spherocytosis overlooked for 7 years in a pediatric patient with ?-thalassemia trait and novel compound heterozygous mutations of SPTA1 gene. Hematology (Amsterdam, Netherlands) 2020 11 25 (1): 438-445. Chen Min, Ye Yu-Ping, Liao Lin, Deng Xue-Lian, Qiu Yu-Ling, Lin Fa-Qu |
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 |
Synchronous detection of pancreatic adenocarcinoma and paraganglioma in a Whipple resection specimen. Pathology, research and practice 2021 8 226 153590. Aaquist Trine, Dembic Maja, Thomassen Mads, de Stricker Karin, Bertelsen Mette, Christensen Lene Gaarsmand, Mortensen Michael Bau, Detlefsen Sön |
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, |
Clinically significant genomic alterations in the Chinese and Western patients with intrahepatic cholangiocarcinoma. BMC cancer 2021 Feb 21 (1): 152. Xu Shifeng, Guo Yuan, Zeng Yanwu, Song Zhijian, Zhu Xiaodan, Fan Ning, Zhang Zhilei, Ren Guibing, Zang Yunjin, Rao W |
Genetic Alteration Profiling of Chinese Lung Adenocarcinoma and Its Effect on Targeted Therapy Efficacy. Frontiers in oncology 2021 12 11 726547. Liu Jie, Xu Wang-Yang, Ye Maosong, Liu Zilong, Li Ch |
Bioinformatic Analysis of Immune Significance of RYR2 Mutation in Breast Cancer. BioMed research international 2021 12 2021 8072796. Xu Zhiquan, Xiang Ling, Wang Rong, Xiong Yongfu, Zhou He, Gu Haitao, Wang Jijian, Peng Linglo |
Literature review on genotype-phenotype correlation in patients with hereditary spherocytosis. Clinical genetics 2022 Sep . Yang Liqing, Shu Huiying, Zhou Min, Gong Yupi |
Facilitating EMA binding test performance using fluorescent beads combined with next-generation sequencing. EJHaem 2022 7 2 (4): 716-728. Glenthøj Andreas, Brieghel Christian, Nardo-Marino Amina, van Wijk Richard, Birgens Henrik, Petersen Jesp |
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 |
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 |
Sex-specific genetic modifiers identified susceptibility of cold stored red blood cells to osmotic hemolysis.
BMC genomics 2022 3 23 (1): 227. Fang Fang, Hazegh Kelsey, Mast Alan E, Triulzi Darrell J, Spencer Bryan R, Gladwin Mark T, Busch Michael P, Kanias Tamir, Page Grier |
Exploring the molecular features and genetic prognostic factors of pulmonary high-grade neuroendocrine carcinomas. Human pathology 2023 9 . Haiyue Wang, Linghua Yan, Yanli Zhu, Wei Sun, Xin Yang, Xinying Liu, Kaiwen Chi, Xiaozheng Huang, Lixin Zhou, Dongmei L |
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 |
[Clinical and gene mutation characteristics of patients with hereditary ellipsocytosis: nine cases report and literature review]. Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2023 6 44 (4): 316-320. X Liu, Y Li, X Zhao, Y Yang, L Zhang, L P Jing, L Ye, K Zhou, J P Li, G X Peng, H H Fan, W R Yang, Y Z Xiong, F K Zha |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: