Singh N - Search Results

1

β-thalassemia intermedia mimicking β-thalassemia trait: The importance of family studies and HBB genotyping in phenotypically ambiguous cases.

Singh N, Hira JK, Chhabra S, Das R, Khadwal AR, Sharma P. Singh N, et al. Int J Lab Hematol. 2023 Aug;45(4):609-612. doi: 10.1111/ijlh.14047. Epub 2023 Feb 22. Int J Lab Hematol. 2023. PMID: 36811326 No abstract available.

2

Misdiagnosis of double heterozygous ε^Gγ(^Aγδβ)⁰-thalassemia/β⁺⁺ thalassemia as homozygous β-thalassemia: A pitfall for molecular diagnostic laboratories.

Singh N, Hira JK, Chhabra S, Khadwal AR, Das R, Sharma P. Singh N, et al. Blood Cells Mol Dis. 2020 Mar;81:102394. doi: 10.1016/j.bcmd.2019.102394. Epub 2019 Nov 30. Blood Cells Mol Dis. 2020. PMID: 31821987 No abstract available.

3

Molecular Characterization of G6PD Deficiency at a North Indian Centre: Implications for Diagnostic Testing Laboratories in Different Regions of India.

Singh N, Kapadia AB, Sharma P, Das R, Jain K, Sachdeva MUS, Khadwal AR, Bal A, Varma N. Singh N, et al. Indian J Hematol Blood Transfus. 2020 Oct;36(4):766-768. doi: 10.1007/s12288-020-01275-y. Epub 2020 Apr 1. Indian J Hematol Blood Transfus. 2020. PMID: 33100726 Free PMC article. No abstract available.

4

A novel ATRX splice variant causing acquired HbH disease in myelodysplastic syndrome with excess blasts-1.

Mallik N, Singh N, Jamwal M, Chhabra S, Hira JK, Malhotra P, Das R, Sharma P. Mallik N, et al. Among authors: singh n. Cancer Genet. 2022 Jan;260-261:53-56. doi: 10.1016/j.cancergen.2021.07.001. Epub 2021 Jul 20. Cancer Genet. 2022. PMID: 34330696

5

Extreme Genotype/Phenotype Heterogeneity of Double Heterozygous Sickle β-Thalassemia in a Family: Implications in Antenatal Diagnosis.

Yadav DD, Singh N, Sreedharanunni S, Hira JK, Chhabra S, Trehan A, Saha S, Sharma P, Das R. Yadav DD, et al. Among authors: singh n. Indian J Hematol Blood Transfus. 2021 Oct;37(4):689-691. doi: 10.1007/s12288-021-01412-1. Epub 2021 Mar 4. Indian J Hematol Blood Transfus. 2021. PMID: 34744353 Free PMC article. No abstract available.

6

Chronic eosinophilic leukemia with recurrent STAT5B N642H mutation-An entity with features of myelodysplastic syndrome/ myeloproliferative neoplasm overlap.

Sreedharanunni S, Jamwal M, Balakrishnan A, Aravindan AV, Sharma R, Singh N, Rajpal S, Singla S, Khadwal AR, Ahluwalia J, Malhotra P, Das R. Sreedharanunni S, et al. Among authors: singh n. Leuk Res. 2022 Jan;112:106753. doi: 10.1016/j.leukres.2021.106753. Epub 2021 Nov 23. Leuk Res. 2022. PMID: 34856508 No abstract available.

7

Ultra-rare Hb Regina (HBB:c.289C>G) with coinherited β-thalassaemia trait: solving the puzzle for extreme erythrocytosis.

Mallik N, Jamwal M, Sharma R, Singh N, Sharma P, Bansal D, Trehan A, Chhabra S, Das R. Mallik N, et al. Among authors: singh n. J Clin Pathol. 2022 Nov;75(11):791-792. doi: 10.1136/jclinpath-2021-208013. Epub 2022 Jan 18. J Clin Pathol. 2022. PMID: 35042755 No abstract available.

8

Hb Mizuho (HBB: c.206T>C): Pitfalls of Screening Tests in an Unstable Hemoglobin Variant Diagnosed after Targeted Next-Generation Sequencing.

Yadav DD, Jamwal M, Singh N, Sharma R, Das R, Trehan A, Bansal D, Chhabra S, Sharma P. Yadav DD, et al. Among authors: singh n. Hemoglobin. 2021 Sep;45(5):338-340. doi: 10.1080/03630269.2022.2034642. Epub 2022 Feb 10. Hemoglobin. 2021. PMID: 35144518

9

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.

Singh N, Jamwal M, Sharma R, Murgai P, Chhabra S, Hira JK, Das R, Sharma P. Singh N, et al. Ann Hematol. 2022 Dec;101(12):2799-2801. doi: 10.1007/s00277-022-04989-3. Epub 2022 Oct 1. Ann Hematol. 2022. PMID: 36180738 No abstract available.

10

Molecular spectrum of inherited FVII deficiency in North India revealed a recurrent variant with a founder effect.

Sharma R, Jamwal M, Senee HK, Singh N, Kumar N, Hans C, Kler A, Bansal D, Trehan A, Malhotra P, Ahluwalia J, Das R. Sharma R, et al. Among authors: singh n. Haemophilia. 2023 Mar;29(2):591-599. doi: 10.1111/hae.14730. Epub 2022 Dec 26. Haemophilia. 2023. PMID: 36571800

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