Detalles de la búsqueda
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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36892591
3.
Three novel mutations in CYB5R3 gene causing NADH-cytochrome b5 reductase enzyme deficiency leads to recessive congenital methaemoglobinemia.
Mol Biol Rep
; 49(3): 2141-2147, 2022 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-35064402
4.
Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.
Hum Mutat
; 41(4): 737-748, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31898843
5.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32112123
6.
Glucose phosphate isomerase (GPI) Tadikonda: Characterization of a novel Pro340Ser mutation.
Pediatr Hematol Oncol
; 34(8): 449-454, 2017 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-29227722
7.
Molecular and clinical heterogeneity in pyruvate kinase deficiency in India.
Blood Cells Mol Dis
; 51(3): 133-7, 2013 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-23770304
8.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37455305
9.
Does novel P5'N-1 mutation in combination with G6PD Asahi in an Indian male contribute to Budd Chiari Syndrome?
Blood Cells Mol Dis
; 66: 8-10, 2017 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-28756180
10.
Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations.
Ann Hematol
; 96(12): 2135-2139, 2017 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-28879554
11.
Unravelling the genetic and phenotypic heterogeneity of SPTA1 gene variants in Hereditary Elliptocytosis and Hereditary Pyropoikilocytosis patients using next-generation sequencing.
Gene
; 843: 146796, 2022 Nov 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-35961434
12.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35413226
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34704234
14.
Successful management of Methemoglobinemia and G6PD deficiency in a patient posted for surgical excision of branchial cyst.
Asian J Transfus Sci
; 16(1): 128-131, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36199403
15.
Functional characterization and modified rescue of novel AE1 mutation R730C associated with overhydrated cation leak stomatocytosis.
Am J Physiol Cell Physiol
; 300(5): C1034-46, 2011 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-21209359
16.
Genotypic analysis of SLC4A1 A858D mutation in Indian population associated with distal renal tubular Acidosis (dRTA) coupled with hemolytic anemia.
Gene
; 769: 145241, 2021 Feb 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-33068675
17.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34321014
18.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33361148
19.
Erythrocytosis, methemoglobinemia, and the saturation gap.
Ann Hematol
; 94(3): 509-10, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25091522
20.
Do UGT1A1 and HMOX1 gene promoter polymorphisms increase the risk of hyperbilirubinemia and gallstones in patients with hereditary spherocytosis?
Ann Hematol
; 94(1): 169-71, 2015 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24947795