Detalhe da pesquisa
1.
Hematological and genetic profiles of persons with co-inherited heterozygous ß-thalassemia and supernumerary α-globin genes.
Eur J Haematol
; 110(5): 510-517, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36598439
2.
A high frequency of Gilbert syndrome (UGT1A1*28/*28) and associated hyperbilirubinemia but not cholelithiasis in adolescent and adult north Indian patients with transfusion-dependent ß-thalassemia.
Ann Hematol
; 99(9): 2019-2026, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32676731
3.
Missing Hb Q-India Peak in a Triple-Heterozygous Patient with Hb D-Punjab/Hb Q-India/ß-Thalassemia Trait.
Hemoglobin
; 44(3): 211-213, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32448026
4.
Hemoglobin Beth Israel [HBB:c.308A>G (p.Asn103Ser)]: an ultra-rare, low oxygen-affinity, non-methemoglobinemic hemoglobin diagnosed on targeted resequencing as cause of dominantly inherited benign cyanosis.
Ann Hematol
; 101(12): 2799-2801, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36180738
5.
Misdiagnosis of double heterozygous εGγ(Aγδß)0-thalassemia/ß++ thalassemia as homozygous ß-thalassemia: A pitfall for molecular diagnostic laboratories.
Blood Cells Mol Dis
; 81: 102394, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31821987
6.
HbH disease due to compound heterozygosity for hemoglobins Zürich-Albisrieden and Sallanches.
Pediatr Blood Cancer
; 67(4): e28161, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31930682
7.
ß-Thalassemia Intermedia Caused by Compound Heterozygosity for Hb Lepore-Hollandia and ß-Thalassemia is Rare in the Indian Population.
Hemoglobin
; 39(5): 362-5, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26291970
8.
A Screening Approach for Inherited Erythrocytosis due to the VHL:c.598C > T Mutation (Chuvash Polycythemia).
Indian J Hematol Blood Transfus
; : 1-5, 2023 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37362405
9.
HbQ-India (HBA1:c.193G>C): hematological profiles and unique CE-HPLC findings of potential diagnostic utility in 65 cases.
Ann Hematol
; 96(7): 1227-1229, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28526955
10.
A novel ATRX splice variant causing acquired HbH disease in myelodysplastic syndrome with excess blasts-1.
Cancer Genet
; 260-261: 53-56, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34330696
11.
Next-Generation Sequencing Based Approach to Identify Underlying Genetic Defects of Glanzmann Thrombasthenia.
Indian J Hematol Blood Transfus
; 37(3): 414-421, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34267460
12.
Hemoglobin Shimonoseki HBA1:c.164A > G Illustrating the Continuing Utility of the Sickling Test and the Challenges in Antenatal Genetic Counselling.
Indian J Hematol Blood Transfus
; 40(1): 166-168, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38312191
13.
ß-thalassemia intermedia mimicking ß-thalassemia trait: The importance of family studies and HBB genotyping in phenotypically ambiguous cases.
Int J Lab Hematol
; 45(4): 609-612, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36811326
14.
First reported co-occurrence of "GATA1-mutated X-linked thrombocytopenia with thalassemia (XLTT)" with heterozygous ß-thalassemia.
Int J Lab Hematol
; 45(6): 999-1002, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37382348
15.
Hemoglobin Andrew-Minneapolis-Bijnor HBB:c.[413T>C;435G>C] in a complex genotype with ß-thalassemia trait: A diagnostic and management conundrum.
Int J Lab Hematol
; 44(4): e164-e167, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266307
16.
Hb Brugg [HBA1:c.63C>A]: Report of an Ultra-Rare Variant Hemoglobin and Its Co-inheritance with Hb D-Punjab.
Indian J Hematol Blood Transfus
; 37(2): 326-328, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33867742
17.
Extreme Genotype/Phenotype Heterogeneity of Double Heterozygous Sickle ß-Thalassemia in a Family: Implications in Antenatal Diagnosis.
Indian J Hematol Blood Transfus
; 37(4): 689-691, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34744353
18.
High prevalence of VKORC1*3 (G9041A) genetic polymorphism in north Indians: A study on patients with cardiac disorders on acenocoumarol.
Drug Discov Ther
; 9(6): 404-10, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26781925
19.
Hb M-Iwate in an Indian family.
Clin Chim Acta
; 446: 192-4, 2015 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25931326