300 related articles for article (PubMed ID: 30903564)
1. Hereditary spherocytosis caused by copy number variation in SPTB gene identified through targeted next-generation sequencing.
Jang W; Kim J; Chae H; Kim M; Koh KN; Park CJ; Kim Y
Int J Hematol; 2019 Aug; 110(2):250-254. PubMed ID: 30903564
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. [Clinical characteristics and genetic analysis of hereditary spherocytosis caused by mutations of ANK1 and SPTB genes].
Gong J; He XL; Zou RY; Chen KK; You YL; Zou H; Tian X; Zhu CG
Zhongguo Dang Dai Er Ke Za Zhi; 2019 Apr; 21(4):370-374. PubMed ID: 31014431
[TBL] [Abstract][Full Text] [Related]
4. SPTB related spherocytosis in a three-generation family presenting with kidney failure in adulthood due to co-occurrence of UMOD disease causing variant.
Meglic A; Debeljak M; Kovac J; Trampus Bakija A; Rajic V; Kojc N; Trebusak Podkrajsek K
Nefrologia (Engl Ed); 2020; 40(4):421-428. PubMed ID: 32113667
[TBL] [Abstract][Full Text] [Related]
5. A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis.
Griswold AJ; Ma D; Sacharow SJ; Robinson JL; Jaworski JM; Wright HH; Abramson RK; Lybaek H; Øyen N; Cuccaro ML; Gilbert JR; Pericak-Vance MA
Autism Res; 2011 Jun; 4(3):221-7. PubMed ID: 21360829
[TBL] [Abstract][Full Text] [Related]
6. [Genetic Analysis of a Chinese Pedigree with Hereditary Spherocytosis Caused by Copy Number Variation Deletion of
Chen XL; Li JG; Men Q; Li X
Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2023 Feb; 31(1):183-188. PubMed ID: 36765497
[TBL] [Abstract][Full Text] [Related]
7. A Novel
Jang W; Kim SK; Nahm CH; Choi JW; Kim JJ; Moon Y
Ann Clin Lab Sci; 2021 Jan; 51(1):136-139. PubMed ID: 33653793
[TBL] [Abstract][Full Text] [Related]
8. Targeted next-generation sequencing identifies a novel nonsense mutation in SPTB for hereditary spherocytosis: A case report of a Korean family.
Shin S; Jang W; Kim M; Kim Y; Park SY; Park J; Yang YJ
Medicine (Baltimore); 2018 Jan; 97(3):e9677. PubMed ID: 29505016
[TBL] [Abstract][Full Text] [Related]
9. Beta-Spectrin Deletion Responsible for Hereditary Spherocytosis: When New Technologies Are Not the Key to Success.
Panizo Morgado E; Darnaude MT; Torres Mohedas J; Benedit M; Cervera Bravo Á
J Pediatr Hematol Oncol; 2020 Oct; 42(7):e686-e688. PubMed ID: 32079985
[TBL] [Abstract][Full Text] [Related]
10. Clinical and genetic diagnosis for 26 paitents with hereditary spherocytosis.
Bai L; Zheng L; Li B; Huang H; Shi X; Yi Y
Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2023 Apr; 48(4):565-574. PubMed ID: 37385619
[TBL] [Abstract][Full Text] [Related]
11. A 2.1 Mb deletion adjacent but distal to a 14q21q23 paracentric inversion in a family with spherocytosis and severe learning difficulties.
Lybaek H; Øyen N; Fauske L; Houge G
Clin Genet; 2008 Dec; 74(6):553-9. PubMed ID: 18717686
[TBL] [Abstract][Full Text] [Related]
12. The updated beta-spectrin mutations in patients with hereditary spherocytosis by targeted next-generation sequencing.
Fan J; Yao L; Lu D; Yao Y; Sun Y; Tian Y; Mou L; Chen L; Zhao L; Qiao S; Hu S; Zhu Y
J Hum Genet; 2021 Dec; 66(12):1153-1158. PubMed ID: 34140613
[TBL] [Abstract][Full Text] [Related]
13. Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte.
Choi HS; Choi Q; Kim JA; Im KO; Park SN; Park Y; Shin HY; Kang HJ; Kook H; Kim SY; Kim SJ; Kim I; Kim JY; Kim H; Park KD; Park KB; Park M; Park SK; Park ES; Park JA; Park JE; Park JK; Baek HJ; Seo JH; Shim YJ; Ahn HS; Yoo KH; Yoon HS; Won YW; Lee KS; Lee KC; Lee MJ; Lee SA; Lee JA; Lee JM; Lee JH; Lee JW; Lim YT; Jung HJ; Chueh HW; Choi EJ; Jung HL; Kim JH; Lee DS;
Orphanet J Rare Dis; 2019 May; 14(1):114. PubMed ID: 31122244
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. A novel SPTB frameshift deletion causing hereditary spherocytosis identified by next-generation sequencing in a Chinese family.
Zhao RQ; Jiang F; Li J; Zhou JY; Tang XW; Li FT; Chen LQ; Li DZ
Int J Lab Hematol; 2021 Dec; 43(6):e294-e297. PubMed ID: 33974364
[No Abstract] [Full Text] [Related]
17. Concomitant Hereditary Spherocytosis and Pyruvate Kinase Deficiency in a Spanish Family with Chronic Hemolytic Anemia: Contribution of Laser Ektacytometry to Clinical Diagnosis.
Vives Corrons JL; Krishnevskaya E; Montllor L; Leguizamon V; Garcia Bernal M
Cells; 2022 Mar; 11(7):. PubMed ID: 35406697
[TBL] [Abstract][Full Text] [Related]
18. A novel SPTB mutation causes hereditary spherocytosis via loss-of-function of β-spectrin.
Li S; Guo P; Mi L; Chai X; Xi K; Liu T; Lu L; Li J
Ann Hematol; 2022 Apr; 101(4):731-738. PubMed ID: 35099593
[TBL] [Abstract][Full Text] [Related]
19. A novel essential splice site variant in SPTB in a large hereditary spherocytosis family.
Nieminen TT; Liyanarachchi S; Comiskey DF; Wang Y; Li W; Hendrickson IV; Brock P; de la Chapelle A; He H
Mol Genet Genomic Med; 2021 May; 9(5):e1641. PubMed ID: 33943044
[TBL] [Abstract][Full Text] [Related]
20. Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil.
Svidnicki MCCM; Zanetta GK; Congrains-Castillo A; Costa FF; Saad STO
Ann Hematol; 2020 May; 99(5):955-962. PubMed ID: 32266426
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
