165 related articles for article (PubMed ID: 29779353)
1. [Using target next-generation sequencing assay in diagnosing of 46 patients with suspected congenital anemias].
Li Y; Peng GX; Gao QY; Li Y; Ye L; Li JP; Song L; Fan HH; Yang Y; Xiong YZ; Wu ZJ; Yang WR; Zhou K; Zhao X; Jing LP; Zhang FK; Zhang L
Zhonghua Xue Ye Xue Za Zhi; 2018 May; 39(5):414-419. PubMed ID: 29779353
[No Abstract] [Full Text] [Related]
2. Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias.
Shefer Averbuch N; Steinberg-Shemer O; Dgany O; Krasnov T; Noy-Lotan S; Yacobovich J; Kuperman AA; Kattamis A; Ben Barak A; Roth-Jelinek B; Chubar E; Shabad E; Dufort G; Ellis M; Wolach O; Pazgal I; Abu Quider A; Miskin H; Tamary H
Eur J Haematol; 2018 Sep; 101(3):297-304. PubMed ID: 29786897
[TBL] [Abstract][Full Text] [Related]
3. Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach.
Kedar PS; Harigae H; Ito E; Muramatsu H; Kojima S; Okuno Y; Fujiwara T; Dongerdiye R; Warang PP; Madkaikar MR
Int J Hematol; 2019 Nov; 110(5):618-626. PubMed ID: 31401766
[TBL] [Abstract][Full Text] [Related]
4. Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias.
Russo R; Andolfo I; Manna F; Gambale A; Marra R; Rosato BE; Caforio P; Pinto V; Pignataro P; Radhakrishnan K; Unal S; Tomaiuolo G; Forni GL; Iolascon A
Am J Hematol; 2018 May; 93(5):672-682. PubMed ID: 29396846
[TBL] [Abstract][Full Text] [Related]
5. Identification of a Novel Mutation in the SEC23B Gene Associated With Congenital Dyserythropoietic Anemia Type II Through the Use of Next-generation Sequencing Panel in an Undiagnosed Case of Nonimmune Hereditary Hemolytic Anemia.
Aydin Koker S; Karapinar TH; Oymak Y; Bianchi P; Fermo E; Gozmen S; Vergin C
J Pediatr Hematol Oncol; 2018 Oct; 40(7):e421-e423. PubMed ID: 29846281
[TBL] [Abstract][Full Text] [Related]
6. Molecular diagnosis of unexplained haemolytic anaemia using targeted next-generation sequencing panel revealed (p.Ala337Thr) novel mutation in GPI gene in two Indian patients.
Kedar PS; Gupta V; Dongerdiye R; Chiddarwar A; Warang P; Madkaikar MR
J Clin Pathol; 2019 Jan; 72(1):81-85. PubMed ID: 30337328
[TBL] [Abstract][Full Text] [Related]
7. Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis.
Isik E; Aydinok Y; Albayrak C; Durmus B; Karakas Z; Orhan MF; Sarper N; Aydın S; Unal S; Oymak Y; Karadas N; Turedi A; Albayrak D; Tayfun F; Tugcu D; Karaman S; Tobu M; Unal E; Ozcan A; Unal S; Aksu T; Unuvar A; Bilici M; Azik F; Ay Y; Gelen SA; Zengin E; Albudak E; Eker I; Karakaya T; Cogulu O; Ozkinay F; Atik T
Eur J Haematol; 2024 Jul; 113(1):82-89. PubMed ID: 38556258
[TBL] [Abstract][Full Text] [Related]
8. Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.
Fermo E; Vercellati C; Marcello AP; Keskin EY; Perrotta S; Zaninoni A; Brancaleoni V; Zanella A; Giannotta JA; Barcellini W; Bianchi P
Front Physiol; 2021; 12():684569. PubMed ID: 34093240
[TBL] [Abstract][Full Text] [Related]
9. Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Congenital Anemias.
Steinberg-Shemer O; Tamary H
Mol Diagn Ther; 2020 Aug; 24(4):397-407. PubMed ID: 32557003
[TBL] [Abstract][Full Text] [Related]
10. The value of next-generation sequencing in routine diagnostics and management of patients with cytopenia.
Breinholt MF; Nielsen K; Schejbel L; Fassi DE; Schöllkopf C; Novotny GW; Mortensen BK; Ahmad A; Høgdall E; Nørgaard P
Int J Lab Hematol; 2022 Jun; 44(3):531-537. PubMed ID: 35142436
[TBL] [Abstract][Full Text] [Related]
11. Mechanosensitive Piezo1 ion channel protein (PIEZO1 gene): update and extended mutation analysis of hereditary xerocytosis in India.
More TA; Dongerdiye R; Devendra R; Warang PP; Kedar PS
Ann Hematol; 2020 Apr; 99(4):715-727. PubMed ID: 32112123
[TBL] [Abstract][Full Text] [Related]
12. Next-generation sequencing unravels homozygous mutation in glucose-6-phosphate isomerase, GPIc.1040G>A (p.Arg347His) causing hemolysis in an Indian infant.
Jamwal M; Aggarwal A; Das A; Maitra A; Sharma P; Krishnan S; Arora N; Bansal D; Das R
Clin Chim Acta; 2017 May; 468():81-84. PubMed ID: 28223188
[TBL] [Abstract][Full Text] [Related]
13. [Analysis of genotype and phenotype of SEC23B gene in a family affected with congenital dyserythropoietic anemia type II].
Li D; Li B; Qu S; Cao W; Yang Y; Ma Y; Hou T
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Dec; 34(6):874-878. PubMed ID: 29188620
[TBL] [Abstract][Full Text] [Related]
14. Targeted Next Generation Sequencing (NGS) to Diagnose Hereditary Hemolytic Anemias.
Bharadwaj R; Raman T; Thangadorai R; Munirathnam D
Int J Hematol Oncol Stem Cell Res; 2020 Jul; 14(3):177-180. PubMed ID: 33024524
[TBL] [Abstract][Full Text] [Related]
15. A case of congenital dyserythropoietic anemia type IV.
de-la-Iglesia-Iñigo S; Moreno-Carralero MI; Lemes-Castellano A; Molero-Labarta T; Méndez M; Morán-Jiménez MJ
Clin Case Rep; 2017 Mar; 5(3):248-252. PubMed ID: 28265383
[TBL] [Abstract][Full Text] [Related]
16. Severe aplastic anemia including Fanconi's anemia and dyskeratosis congenita.
Dokal I
Curr Opin Hematol; 1996 Nov; 3(6):453-60. PubMed ID: 9372117
[TBL] [Abstract][Full Text] [Related]
17. Rare microcytic anemias.
Puy H; Manceau H; Karim Z; Kan-Nengiesser C
Bull Acad Natl Med; 2016 Feb; 200(2):335-347. PubMed ID: 29898329
[TBL] [Abstract][Full Text] [Related]
18. Next-Generation Sequencing-Based Diagnosis of Unexplained Inherited Hemolytic Anemias Reveals Wide Genetic and Phenotypic Heterogeneity.
Jamwal M; Aggarwal A; Palodhi A; Sharma P; Bansal D; Trehan A; Malhotra P; Maitra A; Das R
J Mol Diagn; 2020 Apr; 22(4):579-590. PubMed ID: 32036089
[TBL] [Abstract][Full Text] [Related]
19. Clinical and genetic features of congenital dyserythropoietic anemia (CDA).
Moreno-Carralero MI; Horta-Herrera S; Morado-Arias M; Ricard-Andrés MP; Lemes-Castellano A; Abio-Calvete M; Cedena-Romero MT; González-Fernández FA; Llorente-González L; Periago-Peralta AM; de-la-Iglesia-Íñigo S; Méndez M; Morán-Jiménez MJ
Eur J Haematol; 2018 Sep; 101(3):368-378. PubMed ID: 29901818
[TBL] [Abstract][Full Text] [Related]
20. Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia.
Choi YJ; Kim H; Ahn WK; Lee ST; Han JW; Choi JR; Lyu CJ; Hahn S; Shin S
BMC Med Genomics; 2023 Sep; 16(1):215. PubMed ID: 37697358
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
