Detalhe da pesquisa
1.
Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum.
Mol Genet Genomics
; 298(2): 427-439, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36598564
2.
Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.
Ann Hematol
; 102(5): 1029-1036, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36892591
3.
Mechanosensitive Piezo1 ion channel protein (PIEZO1 gene): update and extended mutation analysis of hereditary xerocytosis in India.
Ann Hematol
; 99(4): 715-727, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32112123
4.
Development of High-Resolution Melting Curve Analysis for rapid detection of SEC23B gene mutation causing Congenital Dyserythropoietic Anemia type II in Indian population.
Ital J Pediatr
; 49(1): 84, 2023 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37455305
5.
Targeted next-generation sequencing revealed a novel homozygous mutation in the LRBA gene causes severe haemolysis associated with Inborn Errors of Immunity in an Indian family.
Hematology
; 27(1): 441-448, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35413226
6.
Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report.
Int J Hematol
; 115(2): 255-262, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34704234
7.
Rare hereditary nonspherocytic hemolytic anemia caused by a novel homozygous mutation, c.301C > A, (Q101K), in the AK1 gene in an Indian family.
BMC Med Genomics
; 14(1): 191, 2021 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321014
8.
Novel pathogenic variant c.2714C>A (p. Thr905Lys) in the HK1 gene causing severe haemolytic anaemia with developmental delay in an Indian family.
J Clin Pathol
; 74(10): 620-624, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33361148
9.
Molecular diagnosis of unexplained haemolytic anaemia using targeted next-generation sequencing panel revealed (p.Ala337Thr) novel mutation in GPI gene in two Indian patients.
J Clin Pathol
; 72(1): 81-85, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30337328
10.
Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction.
Indian J Pediatr
; 86(8): 692-699, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31030358
11.
Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach.
Int J Hematol
; 110(5): 618-626, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31401766
12.
Red cell adenylate kinase deficiency in India: identification of two novel missense mutations (c.71A>G and c.413G>A).
J Clin Pathol
; 72(6): 393-398, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30918013
13.
Congenital Dyserythropoietic Anemia Type II: High Prevalence of c.1385A>G, (p.Tyr462Cys) Mutation in the Indian Population.
Indian J Pediatr
; 90(8): 840, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37204595