Bijarnia-Mahay S - Search Results

1

Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.

Deshpande D, Gupta SK, Sarma AS, Ranganath P, Jain S JMN, Sheth J, Mistri M, Gupta N, Kabra M, Phadke SR, Girisha KM, Dua Puri R, Aggarwal S, Datar C, Mandal K, Tilak P, Muranjan M, Bijarnia-Mahay S, Rama Devi A R, Tayade NB, Ranjan A, Dalal AB. Deshpande D, et al. Hum Mutat. 2021 Oct;42(10):1336-1350. doi: 10.1002/humu.24263. Epub 2021 Aug 3. Hum Mutat. 2021. PMID: 34273913

2

Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India.

Bijarnia-Mahay S, Movva S, Gupta N, Sharma D, Puri RD, Kotecha U, Saxena R, Kabra M, Mohan N, Verma IC. Bijarnia-Mahay S, et al. JIMD Rep. 2015;19:85-93. doi: 10.1007/8904_2014_374. Epub 2015 Jan 18. JIMD Rep. 2015. PMID: 25595217 Free PMC article.

3

Novel and recurrent mutations in WISP3 and an atypical phenotype.

Bhavani GS, Shah H, Dalal AB, Shukla A, Danda S, Aggarwal S, Phadke SR, Gupta N, Kabra M, Gowrishankar K, Gupta A, Bhat M, Puri RD, Bijarnia-Mahay S, Nampoothiri S, Mohanasundaram KM, Rajeswari S, Kulkarni AM, Kulkarni ML, Ranganath P, Ramadevi AR, Hariharan SV, Girisha KM. Bhavani GS, et al. Am J Med Genet A. 2015 Oct;167A(10):2481-4. doi: 10.1002/ajmg.a.37164. Epub 2015 May 18. Am J Med Genet A. 2015. PMID: 25988854 No abstract available.

4

Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.

Gupta D, Bijarnia-Mahay S, Saxena R, Kohli S, Dua-Puri R, Verma J, Thomas E, Shigematsu Y, Yamaguchi S, Deb R, Verma IC. Gupta D, et al. Eur J Med Genet. 2015 Sep;58(9):471-8. doi: 10.1016/j.ejmg.2015.08.002. Epub 2015 Aug 7. Eur J Med Genet. 2015. PMID: 26257134

5

Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.

Gupta D, Bijarnia-Mahay S, Kohli S, Saxena R, Puri RD, Shigematsu Y, Yamaguchi S, Sakamoto O, Gupta N, Kabra M, Thakur S, Deb R, Verma IC. Gupta D, et al. Genet Test Mol Biomarkers. 2016 Jul;20(7):373-82. doi: 10.1089/gtmb.2016.0017. Epub 2016 May 26. Genet Test Mol Biomarkers. 2016. PMID: 27227689

6

Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K).

Bhai P, Bijarnia-Mahay S, Puri RD, Saxena R, Gupta D, Kotecha U, Sachdev A, Gupta D, Vyas V, Agarwal D, Jain V, Bansal RK, Kumar TG, Verma IC. Bhai P, et al. Ann Hum Genet. 2018 Sep;82(5):309-317. doi: 10.1111/ahg.12256. Epub 2018 May 18. Ann Hum Genet. 2018. PMID: 29774539

7

Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing.

Gupta N, Verma G, Kabra M, Bijarnia-Mahay S, Ganapathy A. Gupta N, et al. Indian J Med Res. 2018 Apr;147(4):422-426. doi: 10.4103/ijmr.IJMR_820_16. Indian J Med Res. 2018. PMID: 29998879 Free PMC article. No abstract available.

8

Fetal valproate syndrome as a phenocopy of Kleefstra syndrome.

Arora V, Joshi A, Lall M, Agarwal S, Bijarnia Mahay S, Dua Puri R, Chander Verma I. Arora V, et al. Birth Defects Res. 2018 Sep 1;110(15):1205-1209. doi: 10.1002/bdr2.1379. Epub 2018 Aug 27. Birth Defects Res. 2018. PMID: 30151876 No abstract available.

9

The fatal fetal tumor: a geneticist's perspective.

Arora V, Bijarnia Mahay S, Rao S, Dimri N, Manocha A, Mansukhani C, Mishra R, Gupta S, Dua Puri R, Verma IC. Arora V, et al. J Matern Fetal Neonatal Med. 2021 Mar;34(6):1006-1008. doi: 10.1080/14767058.2019.1622671. Epub 2019 Jun 3. J Matern Fetal Neonatal Med. 2021. PMID: 31113261

10

Carrier screening of spinal muscular atrophy in North Indian population and its public health implications.

Verma IC, Kohli S, Shenbagam S, Bijarnia-Mahay S, DuaPuri R, Saxena R. Verma IC, et al. Clin Genet. 2020 Aug;98(2):198-199. doi: 10.1111/cge.13796. Clin Genet. 2020. PMID: 32666593 No abstract available.

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