Panigrahi I - Search Results

1

Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias.

Kakar N, Rehman FU, Kaur R, Bhavani GS, Goyal M, Shah H, Kaur K, Sodhi KS, Kubisch C, Borck G, Panigrahi I, Girisha KM, Kornak U, Spielmann M. Kakar N, et al. Among authors: panigrahi i. Clin Genet. 2024 Jul;106(1):47-55. doi: 10.1111/cge.14509. Epub 2024 Feb 20. Clin Genet. 2024. PMID: 38378010

2

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.

Sheth J, Bhavsar R, Mistri M, Pancholi D, Bavdekar A, Dalal A, Ranganath P, Girisha KM, Shukla A, Phadke S, Puri R, Panigrahi I, Kaur A, Muranjan M, Goyal M, Ramadevi R, Shah R, Nampoothiri S, Danda S, Datar C, Kapoor S, Bhatwadekar S, Sheth F. Sheth J, et al. Among authors: panigrahi i. BMC Med Genet. 2019 Feb 14;20(1):31. doi: 10.1186/s12881-019-0759-1. BMC Med Genet. 2019. PMID: 30764785 Free PMC article.

3

Single gene variants causing deafness in Asian Indians.

Panigrahi I, Kumari D, Anil Kumar BN. Panigrahi I, et al. J Genet. 2021;100:35. J Genet. 2021. PMID: 34238775 Free article.

4

Over-Representation of Recessive Osteogenesis Imperfecta in Asian Indian Children.

Panigrahi I, Qureshi Y, Kornak U. Panigrahi I, et al. J Pediatr Genet. 2020 Sep 16;11(1):81-86. doi: 10.1055/s-0040-1716830. eCollection 2022 Mar. J Pediatr Genet. 2020. PMID: 35186396 Free PMC article.

5

A systematic review of the monogenic causes of Non-Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment options.

Sharma N, Kumari D, Panigrahi I, Khetarpal P. Sharma N, et al. Among authors: panigrahi i. Clin Genet. 2023 Jan;103(1):16-34. doi: 10.1111/cge.14228. Epub 2022 Sep 29. Clin Genet. 2023. PMID: 36089522 Review.

6

MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome.

Sharda S, Panigrahi I, Marwaha RK. Sharda S, et al. Among authors: panigrahi i. Case Rep Genet. 2011;2011:839650. doi: 10.1155/2011/839650. Epub 2011 Sep 22. Case Rep Genet. 2011. PMID: 23074680 Free PMC article.

7

Methylmalonic Acidemia with Novel MUT Gene Mutations.

Panigrahi I, Bhunwal S, Varma H, Singh S. Panigrahi I, et al. Case Rep Genet. 2017;2017:8984951. doi: 10.1155/2017/8984951. Epub 2017 Oct 12. Case Rep Genet. 2017. PMID: 29158924 Free PMC article.

8

Phenotypic heterogeneity of kyphoscoliosis with vertebral and rib defects: a case series.

Panigrahi I, Angurana SK, Varma H, Peyam Pandurangam S, Williams V, Thappa S, Kaur A, Khandelwal N. Panigrahi I, et al. Clin Dysmorphol. 2019 Jul;28(3):103-113. doi: 10.1097/MCD.0000000000000269. Clin Dysmorphol. 2019. PMID: 30921094

9

Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder.

Panigrahi I, Dhanorkar M, Suthar R, Kumar C, Baalaaji M, Thapa BR, Kalra J. Panigrahi I, et al. Case Rep Genet. 2019 Apr 21;2019:3108093. doi: 10.1155/2019/3108093. eCollection 2019. Case Rep Genet. 2019. PMID: 31139477 Free PMC article.

10

Sotos syndrome in two children from India.

Panigrahi I, Chaudhry C. Panigrahi I, et al. Am J Med Genet A. 2020 Sep;182(9):2181-2183. doi: 10.1002/ajmg.a.61751. Epub 2020 Jul 17. Am J Med Genet A. 2020. PMID: 32677741

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