Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 29 (of 29 Records) |
Query Trace: Hereditary Spherocytosis[original query] |
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[Polymorphism analysis of G199A, Ncol in ANK1 and Memphis I in SLC4A1 genes in Mexican healthy individuals and subjects affected with hereditary spherocytosis]. Gaceta médica de México 0 142 (5): 435-7. Camacho-Torres Ana Luisa, Sánchez-López Josefina Yoaly, Mesa-Cornejo Viviana Matilde, Ibarra Bertha, Perea-Díaz Francisco Javi |
Analysis of the SLC4A1 gene in three Mexican patients with hereditary spherocytosis: Report of a novel mutation. Genetics and molecular biology 2011 6 33 (1): 9-11. Sánchez-López Josefina Y, Camacho-Torres Ana L, Ibarra Bertha, Tintos Jesús A, Perea Francisco |
Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans.
PloS one 2013 8 (7): e69206. Pistis Giorgio, Okonkwo Shawntel U, Traglia Michela, Sala Cinzia, Shin So-Youn, Masciullo Corrado, Buetti Iwan, Massacane Roberto, Mangino Massimo, Thein Swee-Lay, Spector Timothy D, Ganesh Santhi, , Pirastu Nicola, Gasparini Paolo, Soranzo Nicole, Camaschella Clara, Hart Daniel, Green Michael R, Toniolo Danie |
[Hereditary red cell membrane disorders in Japan: comparison with other countries]. [Rinsho? ketsueki] The Japanese journal of clinical hematology 2015 Jul 56 (7): 760-70. Nakanishi Hidekazu, Wada Hideho, Suemori Shinichiro, Sugihara Takas |
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 |
[Identification of a novel ANK1 gene mutation in a newborn with hereditary spherocytosis]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2016 Feb 33 (1): 44-7. Jiang Min, Lu Jie, Zhong Yan, Wang Yajuan, Yang Caiy |
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 |
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias. American journal of hematology 2018 2 93 (5): 672-682. Russo Roberta, Andolfo Immacolata, Manna Francesco, Gambale Antonella, Marra Roberta, Rosato Barbara Eleni, Caforio Paola, Pinto Valeria, Pignataro Piero, Radhakrishnan Kottayam, Unal Sule, Tomaiuolo Giovanna, Forni Gian Luca, Iolascon Achil |
?-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 |
A Case of Hereditary Spherocytosis Caused by a Novel Homozygous Mutation in the SPTB Gene Misdiagnosed as ?-Thalassemia Intermedia Due to a KLF1 Gene Mutation. Hemoglobin 2019 6 43 (2): 140-144. Yang Kun, Ren Quan, Wu Yi, Zhou Yali, Yin Xiaol |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency. Scientific reports 2023 3 13 (1): 4395. Zaninoni Anna, Marra Roberta, Fermo Elisa, Consonni Dario, Andolfo Immacolata, Marcello Anna Paola, Rosato Barbara Eleni, Vercellati Cristina, Barcellini Wilma, Iolascon Achille, Bianchi Paola, Russo Rober |
[Hereditary Spherocytosis and Pregnancy: A Case Report]. Acta medica portuguesa 2023 2 . Miguel Andreia, Alves Maria José, Massa Ana Catari |
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 |
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- Page last updated:Apr 29, 2024
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