Chaudhary AK - Search Results

1

Novel EDA mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela.

Cammarata-Scalisi F, Callea M, Chaudhary AK, Tadich AC, Castillo MA, Morabito A, Bellacchio E, Pisaneschi E, Novelli A, Willoughby CE, Bashyam MD. Cammarata-Scalisi F, et al. Among authors: chaudhary ak. Clin Exp Dermatol. 2023 Nov 16;48(12):1409-1413. doi: 10.1093/ced/llad218. Clin Exp Dermatol. 2023. PMID: 37379583 No abstract available.

2

A novel EDARADD 5'-splice site mutation resulting in activation of two alternate cryptic 5'-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia.

Chaudhary AK, Girisha KM, Bashyam MD. Chaudhary AK, et al. Am J Med Genet A. 2016 Jun;170(6):1639-41. doi: 10.1002/ajmg.a.37607. Epub 2016 Mar 15. Am J Med Genet A. 2016. PMID: 26991760 No abstract available.

3

A novel large deletion that encompasses EDA and the downstream gene AWAT2 causes X-linked hypohidrotic/anhidrotic ectodermal dysplasia.

Chaudhary AK, Sankar VH, Bashyam MD. Chaudhary AK, et al. J Dermatol Sci. 2016 Oct;84(1):105-107. doi: 10.1016/j.jdermsci.2016.06.012. Epub 2016 Jun 28. J Dermatol Sci. 2016. PMID: 27443954 No abstract available.

4

A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.

Bashyam MD, Chaudhary AK, Reddy EC, Reddy V, Acharya V, Nagarajaram HA, Devi AR, Bashyam L, Dalal AB, Gupta N, Kabra M, Agarwal M, Phadke SR, Tainwala R, Kumar R, Hariharan SV. Bashyam MD, et al. Among authors: chaudhary ak. Br J Dermatol. 2012 Apr;166(4):819-29. doi: 10.1111/j.1365-2133.2011.10707.x. Epub 2012 Mar 5. Br J Dermatol. 2012. PMID: 22032522

5

The IVS-II-837 (T>G) appears to be a relatively common 'rare' β-globin gene mutation in β-thalassemia patients in Karnataka State, South India.

Bashyam MD, Chaudhary AK, Bhat V. Bashyam MD, et al. Among authors: chaudhary ak. Hemoglobin. 2012;36(5):497-503. doi: 10.3109/03630269.2012.700532. Hemoglobin. 2012. PMID: 22734501

6

Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India.

Chaudhary AK, Gholse A, Nagarajaram HA, Dalal AB, Gupta N, Dutta AK, Danda S, Gupta R, Sankar HV, Bhavani GS, Girisha KM, Phadke SR, Ranganath P, Bashyam MD. Chaudhary AK, et al. Am J Med Genet A. 2022 Mar;188(3):788-805. doi: 10.1002/ajmg.a.62579. Epub 2021 Dec 4. Am J Med Genet A. 2022. PMID: 34863015

7

Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in India.

Bashyam MD, Chaudhary AK, Kiran M, Nagarajaram HA, Devi RR, Ranganath P, Dalal A, Bashyam L, Gupta N, Kabra M, Muranjan M, Puri RD, Verma IC, Nampoothiri S, Kadandale JS. Bashyam MD, et al. Among authors: chaudhary ak. J Cell Biochem. 2014 Mar;115(3):566-74. doi: 10.1002/jcb.24692. J Cell Biochem. 2014. PMID: 24130151

8

Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation.

Bashyam MD, Chaudhary AK, Kiran M, Reddy V, Nagarajaram HA, Dalal A, Bashyam L, Suri D, Gupta A, Gupta N, Kabra M, Puri RD, RamaDevi R, Kapoor S, Danda S. Bashyam MD, et al. Among authors: chaudhary ak. Clin Genet. 2014 Dec;86(6):530-8. doi: 10.1111/cge.12316. Epub 2013 Dec 20. Clin Genet. 2014. PMID: 24355074

9

The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia.

Chaudhary AK, Mohapatra R, Nagarajaram HA, Ranganath P, Dalal A, Dutta A, Danda S, Girisha KM, Bashyam MD. Chaudhary AK, et al. J Eur Acad Dermatol Venereol. 2017 Jan;31(1):e17-e20. doi: 10.1111/jdv.13587. Epub 2016 May 11. J Eur Acad Dermatol Venereol. 2017. PMID: 27168349 No abstract available.

10

A low prevalence of MYH7/MYBPC3 mutations among familial hypertrophic cardiomyopathy patients in India.

Bashyam MD, Purushotham G, Chaudhary AK, Rao KM, Acharya V, Mohammad TA, Nagarajaram HA, Hariram V, Narasimhan C. Bashyam MD, et al. Among authors: chaudhary ak. Mol Cell Biochem. 2012 Jan;360(1-2):373-82. doi: 10.1007/s11010-011-1077-x. Epub 2011 Sep 29. Mol Cell Biochem. 2012. PMID: 21959974

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