198 related articles for article (PubMed ID: 37357001)
1. [Clinical and gene mutation characteristics of patients with hereditary ellipsocytosis: nine cases report and literature review].
Liu X; Li Y; Zhao X; Yang Y; Zhang L; Jing LP; Ye L; Zhou K; Li JP; Peng GX; Fan HH; Yang WR; Xiong YZ; Zhang FK
Zhonghua Xue Ye Xue Za Zhi; 2023 Apr; 44(4):316-320. PubMed ID: 37357001
[No Abstract] [Full Text] [Related]
2. Whole-exome sequencing for the genetic diagnosis of congenital red blood cell membrane disorders in Taiwan.
Lin PC; Chiou SS; Lin CY; Wang SC; Huang HY; Chang YS; Tseng YH; Kan TM; Liao YM; Tsai SP; Peng CT; Chang JG
Clin Chim Acta; 2018 Dec; 487():311-317. PubMed ID: 30317022
[TBL] [Abstract][Full Text] [Related]
3. Molecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry.
Songdej D; Surapolchai P; Komwilaisak P; Sripornsawan P; Lauhasurayotin S; Teawtrakul N; Rungjirajittranon T; Tantiworawit A; Sinlapamongkolkul P; Torcharus K; Sutcharitchan P; Pongtanakul B; Sirachainan N; Charoenkwan P
Ann Hematol; 2024 Feb; 103(2):385-393. PubMed ID: 37996759
[TBL] [Abstract][Full Text] [Related]
4. Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis.
Maillet P; Alloisio N; Morlé L; Delaunay J
Hum Mutat; 1996; 8(2):97-107. PubMed ID: 8844207
[TBL] [Abstract][Full Text] [Related]
5. Unravelling the genetic and phenotypic heterogeneity of SPTA1 gene variants in Hereditary Elliptocytosis and Hereditary Pyropoikilocytosis patients using next-generation sequencing.
Anil More T; Kedar P
Gene; 2022 Nov; 843():146796. PubMed ID: 35961434
[TBL] [Abstract][Full Text] [Related]
6. A large family of hereditary spherocytosis and a rare case of hereditary elliptocytosis with a novel SPTA1 mutation underdiagnosed in Taiwan: A case report and literature review.
Shih YH; Huang YC; Lin CY; Lin HY; Kuo SF; Lin JS; Shen MC
Medicine (Baltimore); 2023 Jan; 102(4):e32708. PubMed ID: 36705355
[TBL] [Abstract][Full Text] [Related]
7. Molecular insights into hereditary elliptocytosis and pyropoikilocytosis: NGS uncovers multiple potential candidate genes.
Shome DK; Das P; Akbar GA; Taha S; Radhi A; Al-Saad K; Helmy R
Ann Hematol; 2023 Sep; 102(9):2343-2351. PubMed ID: 37400730
[TBL] [Abstract][Full Text] [Related]
8. Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis.
Ma S; Qin J; Wei A; Li X; Qin Y; Liao L; Lin F
Mol Med Rep; 2018 Apr; 17(4):5903-5911. PubMed ID: 29484404
[TBL] [Abstract][Full Text] [Related]
9. [Analysis of SPTA1 gene mutations in a patient with hereditary elliptocytosis].
Ma S; Song K; Niu J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Oct; 35(5):703-706. PubMed ID: 30298500
[TBL] [Abstract][Full Text] [Related]
10. Clinical utility of targeted next-generation sequencing panel in routine diagnosis of hereditary hemolytic anemia: A national reference laboratory experience.
Agarwal AM; McMurty V; Clayton AL; Bolia A; Reading NS; Mani C; Patel JL; Rets A
Eur J Haematol; 2023 Jun; 110(6):688-695. PubMed ID: 36825813
[TBL] [Abstract][Full Text] [Related]
11. Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene.
Cao M; Huang Z; Zhou H; Lin J; Zhang D
J Clin Lab Anal; 2021 Jun; 35(6):e23781. PubMed ID: 33942936
[TBL] [Abstract][Full Text] [Related]
12. Novel mutations in patients with hereditary red blood cell membrane disorders using next-generation sequencing.
He Y; Jia S; Dewan RK; Liao N
Gene; 2017 Sep; 627():556-562. PubMed ID: 28694211
[TBL] [Abstract][Full Text] [Related]
13. Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.
Niss O; Chonat S; Dagaonkar N; Almansoori MO; Kerr K; Rogers ZR; McGann PT; Quarmyne MO; Risinger M; Zhang K; Kalfa TA
Blood Cells Mol Dis; 2016 Oct; 61():4-9. PubMed ID: 27667160
[TBL] [Abstract][Full Text] [Related]
14. [The characteristic of hereditary spherocytosis related gene mutation in 37 Chinese hereditary spherocytisis patients].
Peng GX; Yang WR; Zhao X; Jin LP; Zhang L; Zhou K; Li Y; Ye L; Li Y; Li JP; Fan HH; Song L; Yang Y; Xiong YZ; Wu ZJ; Wang HJ; Zhang FK
Zhonghua Xue Ye Xue Za Zhi; 2018 Nov; 39(11):898-903. PubMed ID: 30486584
[No Abstract] [Full Text] [Related]
15. Novel mutation in alpha-spectrin gene in Saudi patients with hereditary spherocytosis.
Alshomar A; Ahmed AA; Rasheed Z; Alhumaydhi FA; Alsagaby S; Aljohani ASM; Alkhamiss AS; Alghsham R; Althwab SA; Khan MI; Fernández N; Al Abdulmonem W
Nucleosides Nucleotides Nucleic Acids; 2024 Feb; ():1-20. PubMed ID: 38319988
[TBL] [Abstract][Full Text] [Related]
16. Hereditary spherocytosis and hereditary elliptocytosis: aberrant protein sorting during erythroblast enucleation.
Salomao M; Chen K; Villalobos J; Mohandas N; An X; Chasis JA
Blood; 2010 Jul; 116(2):267-9. PubMed ID: 20339087
[TBL] [Abstract][Full Text] [Related]
17. Molecular genetics of hereditary elliptocytosis and hereditary spherocytosis.
Delaunay J; Alloisio N; Morle L; Baklouti F; Dalla Venezia N; Maillet P; Wilmotte R
Ann Genet; 1996; 39(4):209-21. PubMed ID: 9037349
[TBL] [Abstract][Full Text] [Related]
18. Variations in both α-spectrin (SPTA1) and β-spectrin ( SPTB ) in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis.
Christensen RD; Nussenzveig RH; Reading NS; Agarwal AM; Prchal JT; Yaish HM
Neonatology; 2014; 105(1):1-4. PubMed ID: 24193021
[TBL] [Abstract][Full Text] [Related]
19. [Molecular pathology of the erythrocyte membrane].
Delaunay J
Rev Prat; 1993 Jun; 43(11):1392-6. PubMed ID: 8235389
[TBL] [Abstract][Full Text] [Related]
20. Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.
Park J; Jeong DC; Yoo J; Jang W; Chae H; Kim J; Kwon A; Choi H; Lee JW; Chung NG; Kim M; Kim Y
Clin Genet; 2016 Jul; 90(1):69-78. PubMed ID: 26830532
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]