Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 66 Records) |
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[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 |
Risk of spontaneous preterm birth and fetal growth associates with fetal SLIT2.
PLoS genetics 2019 Jun 15 (6): e1008107. Tiensuu Heli, Haapalainen Antti M, Karjalainen Minna K, Pasanen Anu, Huusko Johanna M, Marttila Riitta, Ojaniemi Marja, Muglia Louis J, Hallman Mikko, Rämet Mi |
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 |
Vitamin D receptor polymorphisms in spontaneous preterm birth: a case-control study. Croatian medical journal 2020 Aug 61 (4): 338-345. Gašparovi? Krpina Milena, Bariši? Anita, Peterlin Ana, Tul Nataša, Ostoji? Saša, Peterlin Borut, Pereza Ni |
Genome-wide association study identifies a novel maternal gene?×?stress interaction associated with spontaneous preterm birth.
Pediatric research 2020 Jul . Hong Xiumei, Surkan Pamela J, Zhang Boyang, Keiser Amaris, Ji Yuelong, Ji Hongkai, Burd Irina, Bustamante-Helfrich Blandine, Ogunwole S Michelle, Tang Wan-Yee, Liu Li, Pearson Colleen, Cerda Sandra, Zuckerman Barry, Hao Lingxin, Wang Xiaob |
Maternal folate, one-carbon metabolism and pregnancy outcomes. Maternal & child nutrition 2020 Jul e13064. Jankovic-Karasoulos Tanja, Furness Denise L, Leemaqz Shalem Y, Dekker Gustaaf A, Grzeskowiak Luke E, Grieger Jessica A, Andraweera Prabha H, McCullough Dylan, McAninch Dale, McCowan Lesley M, Bianco-Miotto Tina, Roberts Claire |
DNMT3B rs1569686 and rs2424913 gene polymorphisms are associated with positive family history of preterm birth and smoking status. Croatian medical journal 2020 Feb 61 (1): 8-17. Bariši? Anita, Kolak Maja, Peterlin Ana, Tul Nataša, Gašparovi? Krpina Milena, Ostoji? Saša, Peterlin Borut, Pereza Ni |
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 |
Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth. Scientific reports 2021 8 11 (1): 17115. Huusko Johanna M, Tiensuu Heli, Haapalainen Antti M, Pasanen Anu, Tissarinen Pinja, Karjalainen Minna K, Zhang Ge, Christensen Kaare, Ryckman Kelli K, Jacobsson Bo, Murray Jeffrey C, Kingsmore Stephen F, Hallman Mikko, Muglia Louis J, Rämet Mi |
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 |
Maternal LINE-1 DNA Methylation in Early Spontaneous Preterm Birth. Biological research for nursing 2021 11 24 (1): 85-93. Bariši? Anita, Stankovi? Aleksandra, Stojkovi? Ljiljana, Pereza Nina, Ostoji? Saša, Peterlin Ana, Peterlin Borut, Vranekovi? Jadran |
Maternal selenium levels and whole genome screen in recurrent spontaneous preterm birth population: A nested case control study.
European journal of obstetrics, gynecology, and reproductive biology 2021 9 265 203-211. Care Angharad G, Gupta Juhi K, Goodfellow Laura, Zhang Ge, Monangi Nagendra, Belling Elizabeth, Landero Julio, Chappell Joanne, Sharp Andrew, Alfirevic Ana, Müller-Myhsok Bertram, Muglia Louis J, Alfirevic Zar |
Literature review on genotype-phenotype correlation in patients with hereditary spherocytosis. Clinical genetics 2022 Sep . Yang Liqing, Shu Huiying, Zhou Min, Gong Yupi |
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 |
A genotype-first analysis in a cohort of Mullerian anomaly. Journal of human genetics 2022 1 67 (6): 347-352. Tian Weijie, Chen Na, Ye Yang, Ma Congcong, Qin Chenglu, Niu Yuchen, Xiaoxin L, Zhao Lina, Zhao Hengqiang, Liang Ze, Song Shuang, Wang Yuan, Chen Zefu, Lin Jiachen, Yan Zihui, Duan Jiali, Zhao Sen, Zhang Terry Jianguo, Qiu Guixing, Wu Zhihong, Wu Nan, Zhu L |
Intronic variants of LGALS13 gene encoding placental protein (PP13) are linked with increased risk of infection-associated spontaneous preterm birth. American journal of reproductive immunology (New York, N.Y. : 1989) 2023 8 90 (3): e13759. Tanu Bhati, Ankita Ray, Renu Arora, Fouzia Siraj, Suhel Parvez, Sangita Rasto |
Genetic variants associated with spontaneous preterm birth in women from India: a prospective cohort study. The Lancet regional health. Southeast Asia 2023 7 14 100190. Esha Bhattacharjee, Ramachandran Thiruvengadam, Ayushi, Chitrarpita Das, , Nitya Wadhwa, Uma Chandra Mouli Natchu, Pallavi Kshetrapal, Shinjini Bhatnagar, Partha Pratim Majumder, Arindam Mait |
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 |
Case report: Whole-exome sequencing for a hereditary elliptocytosis case with an unexpectedly low HbA. Frontiers in medicine 2023 12 10 1301760. Lu Pang, Ziyi Zeng, Yadi Ding, Haiming Huang, Haixia |
Interferon-stimulated gene 15 polymorphisms are associated with spontaneous preterm birth in Taiwanese women. American journal of reproductive immunology (New York, N.Y. : 1989) 2023 11 90 (6): e13790. Tzu-Yang Chang, Liang-Kai Wang, Yi-Hsiu Kuo, Chia-Yu Chen, Tun-Wen Pai, Chie-Pein Ch |
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 |
Integrative analysis of noncoding mutations identifies the druggable genome in preterm birth. Science advances 2024 1 10 (3): eadk1057. Cheng Wang, Yuejun Jessie Wang, Lihua Ying, Ronald J Wong, Cecele C Quaintance, Xiumei Hong, Norma Neff, Xiaobin Wang, Joseph R Biggio, Sam Mesiano, Stephen R Quake, Cristina M Alvira, David N Cornfield, David K Stevenson, Gary M Shaw, Jingjing |
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- Page last updated:May 13, 2024
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