Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 41 Records) |
Query Trace: SLC4A1[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 |
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 |
Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children. Renal failure 2018 9 40 (1): 520-526. Liu Jiaojiao, Shen Qian, Li Guomin, Zhai Yihui, Fang Xiaoyan, Xu Ho |
Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1) Mutation-Related Autosomal Recessive Distal Renal Tubular Acidosis. Laboratory medicine 2018 8 50 (1): 78-86. Deejai Nipaporn, Wisanuyotin Suwannee, Nettuwakul Choochai, Khositseth Sookkasem, Sawasdee Nunghathai, Saetai Kiattichai, Yenchitsomanus Pa-Thai, Rungroj Nanyaw |
Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations. Pediatric nephrology (Berlin, Germany) 2018 5 33 (9): 1523-1529. Alonso-Varela Marta, Gil-Peña Helena, Coto Eliecer, Gómez Juan, Rodríguez Julián, Rodríguez-Rubio Enrique, Santos Fernando, |
Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis. Kidney & blood pressure research 2018 4 43 (2): 513-521. Park Eujin, Cho Myung Hyun, Hyun Hye Sun, Shin Jae Il, Lee Joo Hoon, Park Young Seo, Choi Hyun Jin, Kang Hee Gyung, Cheong Hae |
?-thalassaemia combined with hereditary spherocytosis in the same patient. Experimental and therapeutic medicine 2018 2 15 (2): 1298-1303. Li Xiaohong, Liao Lin, Deng Xuelian, Huang Jian, Deng Zengfu, Wei Hongying, Mo Wuning, Lin Faqu |
[Application of High Resolution Melting Curve Analysis in Detection of SLC4A1 Gene Mutation in Patients with Hereditary Spherocytosis]. Zhongguo shi yan xue ye xue za zhi 2018 Dec 26 (6): 1826-1830. Ma Shi-Yue, Liao Lin, He Ben-Jin, Lin Fa-Qu |
[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 |
Genomic Association Analysis Reveals Variants Associated With Blood Pressure Response to Beta-Blockers in European Americans. Clinical and translational science 2019 Apr . Singh Sonal, El Rouby Nihal, McDonough Caitrin W, Gong Yan, Bailey Kent R, Boerwinkle Eric, Chapman Arlene B, Gums John G, Turner Stephen T, Cooper-DeHoff Rhonda M, Johnson Julie |
Exome-wide survey of the Siberian Caucasian population. BMC medical genetics 2019 Apr 20 (Suppl 1): 51. Yurchenko Andrey A, Yudin Nikolai S, Voevoda Mikhail |
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 |
Genome-Wide Association for HbA1c in Malay Identified Deletion on SLC4A1 that Influences HbA1c Independent of Glycemia.
The Journal of clinical endocrinology and metabolism 2020 Sep . Chai Jin-Fang, Kao Shih-Ling, Wang Chaolong, Lim Victor Jun-Yu, Khor Ing Wei, Dou Jinzhuang, Podgornaia Anna I, Chothani Sonia, Cheng Ching-Yu, Sabanayagam Charumathi, Wong Tien-Yin, van Dam Rob M, Liu Jianjun, Reilly Dermot F, Paterson Andrew D, Sim Xueli |
Evaluation of phenotypic and genotypic features of children with distal kidney tubular acidosis. Pediatric nephrology (Berlin, Germany) 2020 7 35 (12): 2297-2306. Atmis Bahriye, Cevizli Derya, Melek Engin, Bisgin Atil, Unal Ilker, Anarat Ali, Bayazit Aysun |
Distribution of Diego blood group alleles and genotypes in the Chinese Korean population and sequence-based identification. Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 2020 Feb 102741. Li-Xin Jiao, Xiao-Feng Lang, Ling-Ling Liu, Yu Han, Fan Yang, Yue Lang, Rui-Qing |
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 |
Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis. Clinical genetics 2021 6 100 (4): 440-446. Guo Wencong, Song Qijing, Zhang Ruixiao, Xin Qing, Liu Zhiying, Lang Yanhua, Zhao Xiangzhong, Shao Lepi |
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, |
Literature review on genotype-phenotype correlation in patients with hereditary spherocytosis. Clinical genetics 2022 Sep . Yang Liqing, Shu Huiying, Zhou Min, Gong Yupi |
Systematic assessment of monogenic etiology in adult-onset kidney stone formers undergoing urological intervention-evidence for genetic pretest probability. American journal of medical genetics. Part C, Seminars in medical genetics 2022 8 190 (3): 279-288. Schönauer Ria, Scherer Lotte, Nemitz-Kliemchen Melanie, Hagemann Tobias, Hantmann Elena, Seidel Anna, Müller Luise, Kehr Stephanie, Voigt Cornelia, Stolzenburg Jens-Uwe, Halbritter J |
Association of autosomal-recessive-type distal renal tubular acidosis and Glanzmann thrombasthenia as a consequence of runs of homozygosity. Clinical case reports 2022 7 10 (7): e6070. Aso Keiko, Soutome Takehiko, Satoh Mari, Aoki Takako, Ogura Hiromi, Yamamoto Toshiyuki, Kanno Hitoshi, Takahashi Hiroyu |
Frequency of the DI*A, DI*B and Band 3 Memphis polymorphism among distinct groups in Brazil. Hematology, transfusion and cell therapy 2022 May . Kaliniczenko Alessandra, Martins Juliana Oliveira, Cruz Bruno Ribeiro, Chiba Akemi Kuroda, Filho João Paulo Botelho Vieira, Bordin José Orlan |
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 |
Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort. Molecular genetics and genomics : MGG 2022 May . Huang Lin, Qi Chang, Zhu Gaohong, Ding Juanjuan, Yuan Li, Sun Jie, He Xuelian, Wang Xiaow |
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 |
Rare Case of Hemolytic Anemia and Distal Renal Tubular Acidosis in an adult due to Homozygous SLC4A1 Mutation. Indian journal of nephrology 2023 7 33 (3): 209-212. Wasiyeeullah Shaikh, Lohitaksha Suratkal, Abhay Bha |
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 |
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients. Pediatric nephrology (Berlin, Germany) 2023 6 . Yukun Liu, Yucheng Ge, Ruichao Zhan, Zhenqiang Zhao, Jun Li, Wenying Wa |
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- Page last updated:Mar 25, 2024
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