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Ajay Kumar Chaudhary
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Year
Evidence for possible non‐canonical pathway (s) driven early‐onset colorectal cancer in India
R Raman, V Kotapalli, R Adduri, S Gowrishankar, L Bashyam, ...
Molecular carcinogenesis 53 (S1), E181-E186, 2014
402014
A low prevalence of MYH7/MYBPC3 mutations among Familial Hypertrophic Cardiomyopathy patients in India
MD Bashyam, G Purushotham, AK Chaudhary, KM Rao, V Acharya, ...
Molecular and cellular biochemistry 360, 373-382, 2012
352012
Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation
MD Bashyam, AK Chaudhary, M Kiran, V Reddy, HA Nagarajaram, ...
Clinical genetics 86 (6), 530-538, 2014
222014
A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India
MD Bashyam, AK Chaudhary, EC Reddy, V Reddy, V Acharya, ...
British Journal of Dermatology 166 (4), 819-829, 2012
222012
Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C‐termini of E1α and E1β
MD Bashyam, AK Chaudhary, M Sinha, HA Nagarajaram, ARR Devi, ...
Journal of Cellular Biochemistry 113 (10), 3122-3132, 2012
202012
Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: Identification of novel mutations that affect PAH RNA
MD Bashyam, AK Chaudhary, EC Reddy, ARR Devi, GR Savithri, ...
Molecular genetics and metabolism 100 (1), 96-99, 2010
122010
A novel EDARADD5′-splice site mutation resulting in activation of two alternate cryptic 5′-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia
AK Chaudhary, KM Girisha, MD Bashyam
American Journal of Medical Genetics Part A 170 (6), 1639-1641, 2016
102016
The novel EDAR p. L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia.
AK Chaudhary, R Mohapatra, HA Nagarajaram, P Ranganath, A Dalal, ...
Journal of the European Academy of Dermatology & Venereology 31 (1), 2017
92017
Splice, insertion‐deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in India
MD Bashyam, AK Chaudhary, M Kiran, HA Nagarajaram, RR Devi, ...
Journal of Cellular Biochemistry 115 (3), 566-574, 2014
82014
A novel large deletion that encompasses EDA and the downstream gene AWAT2 causes X-linked hypohidrotic/anhidrotic ectodermal dysplasia
AK Chaudhary, VH Sankar, MD Bashyam
Journal of Dermatological Science 84 (1), 105-107, 2016
72016
Evidence for presence of mismatch repair gene expression positive Lynch syndrome cases in India
MD Bashyam, V Kotapalli, R Raman, AK Chaudhary, BK Yadav, ...
Molecular Carcinogenesis 54 (12), 1807-1814, 2015
52015
A novel homozygous point mutation at codon 82 (HBB: c. 247A> T) in the beta-globin gene leads to thalassemia major
R Angalena, KN Prabitha, AK Chaudhary, MD Bashyam, S Jain, A Dalal
International Journal of Laboratory Hematology 32 (5), 548-549, 2010
42010
Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India
AK Chaudhary, A Gholse, HA Nagarajaram, AB Dalal, N Gupta, AK Dutta, ...
American Journal of Medical Genetics Part A 188 (3), 788-805, 2022
32022
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
MD Bashyam, AK Chaudhary, V Bhat
Hemoglobin 36 (5), 497-503, 2012
32012
Abstract# 1446: Genome-wide analysis of squamous cell carcinoma and adenocarcinoma of the esophagus reveals novel genetic alterations
M Bashyam, P Ramaswamy, K Viswakalyan, R Ratheesh, A Chaudhary, ...
Cancer Research 69 (9_Supplement), 1446-1446, 2009
12009
Novel EDA mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela
F Cammarata-Scalisi, M Callea, AK Chaudhary, AC Tadich, MA Castillo, ...
Clinical and Experimental Dermatology 48 (12), 1409-1413, 2023
2023
Identification of MMR gene exonic rearrangements in suspected Lynch syndrome tumors without loss of MMR expression
MD Bashyam, V Kotapalli, R Raman, BK Yadav, AK Chaudhary, ...
Cancer Research 74 (19_Supplement), 1285-1285, 2014
2014
Presence of non-canonical tumorigenesis pathways in early-onset sporadic rectal cancer.
R Raman, V Kotapalli, RSR Adduri, VK Bhaskara, S Gowrishankar, ...
Cancer Research 73 (8_Supplement), 1198-1198, 2013
2013
Low frequency of MLH1/MSH2 inactivation in suspected HNPCC patients from India
MD Bashyam, V Kotapalli, R Raman, AK Chaudhary, S Gowrishankar, ...
Cancer Research 71 (8_Supplement), 3766-3766, 2011
2011
Erratum to Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: Identification of novel mutations that affect PAH RNA,[Mol. Genet. Metab.(2010), 100 …
MD Bashyam, AK Chaudhary, EC Reddy, ARR Devi, GR Savithri, ...
Molecular Genetics and Metabolism 100 (4), 390, 2010
2010
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