Verma IC - Search Results

1

ANO5-associated Gnathodiaphyseal dysplasia with calvarial doughnut lesions: First report in an Asian Indian with an expanded phenotype.

Sandal S, Arora V, Verma IC. Sandal S, et al. Among authors: verma ic. Congenit Anom (Kyoto). 2021 Jan;61(1):25-26. doi: 10.1111/cga.12391. Epub 2020 Sep 15. Congenit Anom (Kyoto). 2021. PMID: 32902009 No abstract available.

2

The first case of antenatal presentation in COG8-congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype.

Arora V, Puri RD, Bhai P, Sharma N, Bijarnia-Mahay S, Dimri N, Baijal A, Saxena R, Verma I. Arora V, et al. Am J Med Genet A. 2019 Mar;179(3):480-485. doi: 10.1002/ajmg.a.61030. Epub 2019 Jan 28. Am J Med Genet A. 2019. PMID: 30690882

3

Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome.

Arora V, Aggarwal S, Bijarnia S, Lall M, Joshi A, Dua-Puri R, Arora U, Verma I. Arora V, et al. Mol Syndromol. 2019 Jan;9(6):312-318. doi: 10.1159/000494995. Epub 2018 Dec 14. Mol Syndromol. 2019. PMID: 30800048 Free PMC article.

4

Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation.

Arora V, Bijarnia-Mahay S, Kulshreshtra S, Singh K, Puri RD, Verma IC. Arora V, et al. Among authors: verma ic. Autops Case Rep. 2019 Sep 30;9(4):e2019124. doi: 10.4322/acr.2019.124. eCollection 2019 Oct-Dec. Autops Case Rep. 2019. PMID: 31641664 Free PMC article.

5

Expanding the phenotypic and genotypic spectrum of Wiedemann-Steiner syndrome: First patient from India.

Arora V, Puri RD, Bijarnia-Mahay S, Verma IC. Arora V, et al. Among authors: verma ic. Am J Med Genet A. 2020 May;182(5):953-956. doi: 10.1002/ajmg.a.61534. Epub 2020 Mar 3. Am J Med Genet A. 2020. PMID: 32128942

6

Genetic Testing in Pediatric Epilepsy.

Verma IC, Bhatia S, Arora V. Verma IC, et al. Indian J Pediatr. 2021 Oct;88(10):1017-1024. doi: 10.1007/s12098-020-03512-8. Epub 2020 Oct 22. Indian J Pediatr. 2021. PMID: 33090324 Review.

7

The molecular landscape of oculocutaneous albinism in India and its therapeutic implications.

Kohli S, Saxena R, Puri RD, Bijarnia Mahay S, Pal S, Dubey S, Arora V, Verma I. Kohli S, et al. Eur J Hum Genet. 2024 Oct;32(10):1267-1277. doi: 10.1038/s41431-023-01496-5. Epub 2023 Nov 30. Eur J Hum Genet. 2024. PMID: 38030918

8

CDKN1C -Related Beckwith-Wiedemann Syndrome: First Patient from India.

Arora V, Takkar A, Dubey S, Gupta D, Saxena R, Verma IC. Arora V, et al. Among authors: verma ic. J Pediatr Genet. 2023 Mar 31;13(4):330-334. doi: 10.1055/s-0043-1764126. eCollection 2024 Dec. J Pediatr Genet. 2023. PMID: 39502854 Free PMC article.

9

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.

10

Organization for rare diseases India (ORDI) - addressing the challenges and opportunities for the Indian rare diseases' community.

Rajasimha HK, Shirol PB, Ramamoorthy P, Hegde M, Barde S, Chandru V, Ravinandan ME, Ramchandran R, Haldar K, Lin JC, Babar IA, Girisha KM, Srinivasan S, Navaneetham D, Battu R, Devarakonda R, Kini U, Vijayachandra K, Verma IC. Rajasimha HK, et al. Among authors: verma ic. Genet Res (Camb). 2014 Aug 13;96:e009. doi: 10.1017/S0016672314000111. Genet Res (Camb). 2014. PMID: 25579084 Free PMC article. Review.

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