279 related articles for article (PubMed ID: 30317022)
1. 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]
2. 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]
3. 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]
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. Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis.
Wang R; Yang S; Xu M; Huang J; Liu H; Gu W; Zhang X
Sci China Life Sci; 2018 Aug; 61(8):947-953. PubMed ID: 29572776
[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. 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]
8. [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]
9. Identification of a de novo ANK1 mutation in a Chinese family with hereditary spherocytosis.
Guan H; Liang X; Zhang R; Wang H; Liu W; Zhang R; Yang J; Liu S
Hematology; 2018 Jul; 23(6):357-361. PubMed ID: 29099659
[TBL] [Abstract][Full Text] [Related]
10. Advances in understanding the pathogenesis of red cell membrane disorders.
Iolascon A; Andolfo I; Russo R
Br J Haematol; 2019 Oct; 187(1):13-24. PubMed ID: 31364155
[TBL] [Abstract][Full Text] [Related]
11. Whole-exome sequencing enables correct diagnosis and surgical management of rare inherited childhood anemia.
Khurana M; Edwards D; Rescorla F; Miller C; He Y; Sierra Potchanant E; Nalepa G
Cold Spring Harb Mol Case Stud; 2018 Oct; 4(5):. PubMed ID: 30275003
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Identification of new mutations in patients with hereditary spherocytosis by next-generation sequencing.
Qin L; Nie Y; Zhang H; Chen L; Zhang D; Lin Y; Ru K
J Hum Genet; 2020 Apr; 65(4):427-434. PubMed ID: 31980736
[TBL] [Abstract][Full Text] [Related]
14. [Disorders of the membrane skeleton of erythrocytes in hereditary spherocytosis and elliptocytosis: significance of the molecular defect for pathogenesis and clinical severity].
Eber SW
Klin Padiatr; 1991; 203(4):284-95. PubMed ID: 1942935
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Clinical Exome Sequencing Reveals Novel Mutations in
Chiguer A; Lyahyai J; El Kadiri Y; Cherkaoui Jaouad I; Doubaj Y; Sefiani A
Hemoglobin; 2024 Jun; ():1-4. PubMed ID: 38831725
[TBL] [Abstract][Full Text] [Related]
17. Whole exome sequencing identified a novel mutation (p.Ala1884Pro) of β-spectrin in a Chinese family with hereditary spherocytosis.
Fan LL; Liu JS; Huang H; Du R; Xiang R
J Gene Med; 2019 Feb; 21(2-3):e3073. PubMed ID: 30690801
[TBL] [Abstract][Full Text] [Related]
18. Red cell ektacytometry in two patients with chronic hemolytic anemia and three new α-spectrin variants.
Vives-Corrons JL; Krishnevskaya E; Hernández-Rodriguez I; Payán-Pernia S; Sevilla ÁFR; Badell I
Ann Hematol; 2022 Mar; 101(3):549-555. PubMed ID: 34845540
[TBL] [Abstract][Full Text] [Related]
19. Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum.
More TA; Devendra R; Dongerdiye R; Warang P; Kedar P
Mol Genet Genomics; 2023 Mar; 298(2):427-439. PubMed ID: 36598564
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
