221 related articles for article (PubMed ID: 28090778)
1. Three Novel Spectrin Variants in Jaundiced Neonates.
Christensen RD; Agarwal AM; Yaish HM; Reading NS; O'Brien EA; Prchal JT
Clin Pediatr (Phila); 2018 Jan; 57(1):19-26. PubMed ID: 28090778
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome.
Suzuki T; Togawa T; Kanno H; Ogura H; Yamamoto T; Sugiura T; Kouwaki M; Saitoh S
J Pediatr Hematol Oncol; 2021 Mar; 43(2):e250-e254. PubMed ID: 32287101
[TBL] [Abstract][Full Text] [Related]
4. [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]
5. 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]
6. Novel α-spectrin mutation in trans with α-spectrin causing severe neonatal jaundice from hereditary spherocytosis.
Nussenzveig RH; Christensen RD; Prchal JT; Yaish HM; Agarwal AM
Neonatology; 2014; 106(4):355-7. PubMed ID: 25277063
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. Location and PCR-based detection of three polymorphisms of the human erythrocyte beta-spectrin gene (SPTB).
Gallagher PG; Lecomte MC; Galand C; Wang YP; Tse WT; Forget BG
Br J Haematol; 1994 Oct; 88(2):413-4. PubMed ID: 7803294
[TBL] [Abstract][Full Text] [Related]
13. Dizygotic twins with prolonged jaundice and microcytic, hypochromic, hemolytic anemia with pyropoikilocytosis.
Bahr TM; Lozano-Chinga M; Agarwal AM; Meznarich JA; Gerday E; Smoot JL; Taylor A; Christensen RD
Blood Cells Mol Dis; 2020 Nov; 85():102462. PubMed ID: 32623341
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. [JAUNDICE. III].
BERETTA-ANGUISSOLA A
Minerva Med; 1963 Dec; 54():3681-5. PubMed ID: 14118240
[No Abstract] [Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia.
Ittiwut C; Natesirinilkul R; Tongprasert F; Sathitsamitphong L; Choed-Amphai C; Fanhchaksai K; Charoenkwan P; Suphapeetiporn K; Shotelersuk V
Br J Haematol; 2019 May; 185(3):578-582. PubMed ID: 30198572
[No Abstract] [Full Text] [Related]
20. Beta spectrin PRAGUE: a truncated beta spectrin producing spectrin deficiency, defective spectrin heterodimer self-association and a phenotype of spherocytic elliptocytosis.
Jarolim P; Wichterle H; Hanspal M; Murray J; Rubin HL; Palek J
Br J Haematol; 1995 Oct; 91(2):502-10. PubMed ID: 8547102
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]