Shukla A - Search Results

1

Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.

Pasumarthi D, Gupta N, Sheth J, Jain SJMN, Rungsung I, Kabra M, Ranganath P, Aggarwal S, Phadke SR, Girisha KM, Shukla A, Datar C, Verma IC, Puri RD, Bhavsar R, Mistry M, Sankar VH, Gowrishankar K, Agrawal D, Nair M, Danda S, Soni JP, Dalal A. Pasumarthi D, et al. Among authors: shukla a. J Hum Genet. 2020 Nov;65(11):971-984. doi: 10.1038/s10038-020-0797-8. Epub 2020 Jul 10. J Hum Genet. 2020. PMID: 32651481

2

Status of 25-hydroxyvitamin D deficiency and effect of vitamin D receptor gene polymorphisms on bone mineral density in thalassemia patients of North India.

Singh K, Kumar R, Shukla A, Phadke SR, Agarwal S. Singh K, et al. Among authors: shukla a. Hematology. 2012 Sep;17(5):291-6. doi: 10.1179/1607845412Y.0000000017. Hematology. 2012. PMID: 22971535 Clinical Trial.

3

Fibrodysplasia ossificans progressiva: three Indian patients with mutation in the ACVR1 gene.

Shukla A, Taywade O, Stephen J, Gupta D, Phadke SR. Shukla A, et al. Indian J Pediatr. 2014 Jun;81(6):617-9. doi: 10.1007/s12098-013-1117-5. Epub 2013 Aug 6. Indian J Pediatr. 2014. PMID: 23918320

4

Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: a study in 203 Indian patients.

Boggula VR, Shukla A, Danda S, Hariharan SV, Nampoothiri S, Kumar R, Phadke SR. Boggula VR, et al. Among authors: shukla a. Indian J Med Res. 2014 Jan;139(1):66-75. Indian J Med Res. 2014. PMID: 24604040 Free PMC article.

5

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.

Stephen J, Shukla A, Dalal A, Girisha KM, Shah H, Gupta N, Kabra M, Dabadghao P, Hasegawa K, Tanaka H, Phadke SR. Stephen J, et al. Among authors: shukla a. Am J Med Genet A. 2014 Jun;164A(6):1482-9. doi: 10.1002/ajmg.a.36481. Epub 2014 Mar 25. Am J Med Genet A. 2014. PMID: 24668929

6

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.

Stephen J, Girisha KM, Dalal A, Shukla A, Shah H, Srivastava P, Kornak U, Phadke SR. Stephen J, et al. Among authors: shukla a. Eur J Med Genet. 2015 Jan;58(1):21-7. doi: 10.1016/j.ejmg.2014.10.001. Epub 2014 Oct 24. Eur J Med Genet. 2015. PMID: 25450603

7

Chondrodysplasia punctata tibia metacarpal type: report of a 1.5 year old child with severe short stature and extensive calcific stippling.

Shukla A, Phadke SR. Shukla A, et al. Clin Dysmorphol. 2015 Jul;24(3):118-21. doi: 10.1097/MCD.0000000000000076. Clin Dysmorphol. 2015. PMID: 25602717 No abstract available.

8

Anomalies associated with single umbilical artery at perinatal autopsy.

Nayak SS, Shukla A, Girisha KM. Nayak SS, et al. Among authors: shukla a. Indian Pediatr. 2015 Jan;52(1):73-4. doi: 10.1007/s13312-015-0574-5. Indian Pediatr. 2015. PMID: 25638195 Free article.

9

Clinical utility of fetal autopsy and its impact on genetic counseling.

Nayak SS, Shukla A, Lewis L, Kadavigere R, Mathew M, Adiga PK, Vasudeva A, Kumar P, Shetty J, Shah H, Girisha KM. Nayak SS, et al. Among authors: shukla a. Prenat Diagn. 2015 Jul;35(7):685-91. doi: 10.1002/pd.4592. Epub 2015 Apr 5. Prenat Diagn. 2015. PMID: 25763538

10

Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes.

Shukla A, Mandal K, Patil SJ, Kishore Y, Phadke SR, Girisha KM. Shukla A, et al. Am J Med Genet A. 2015 Aug;167A(8):1927-31. doi: 10.1002/ajmg.a.37116. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25898978

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