M
Meenal Agarwal
Researcher at Sanjay Gandhi Post Graduate Institute of Medical Sciences
Publications - 33
Citations - 256
Meenal Agarwal is an academic researcher from Sanjay Gandhi Post Graduate Institute of Medical Sciences. The author has contributed to research in topics: Population & Gene mutation. The author has an hindex of 8, co-authored 31 publications receiving 198 citations.
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GALNS mutations in Indian patients with mucopolysaccharidosis IVA
Abdul Mueed Bidchol,Ashwin Dalal,Hitesh Shah,Suryanarayana S,Sheela Nampoothiri,Madhulika Kabra,Neerja Gupta,Sumita Danda,Kalpana Gowrishankar,Shubha R. Phadke,Seema Kapoor,Mahesh Kamate,I. C. Verma,Ratna Dua Puri,V.H. Sankar,A. Radha Rama Devi,S.J. Patil,Prajnya Ranganath,Prajnya Ranganath,S Jamal Md Nurul Jain,Meenal Agarwal,Ankur Singh,Pallavi Mishra,Parag M Tamhankar,P. M. Gopinath,Hampapathalu A. Nagarajaram,Kapaettu Satyamoorthy,Katta M. Girisha +27 more
TL;DR: The results indicate that the Indian patients may have a distinct mutation spectrum compared to those of other populations, and sequencing of these exons initially may be a cost‐effective approach in Asian Indian patients.
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Clinical and Mutation Profile of Multicentric Osteolysis Nodulosis and Arthropathy
Gandham SriLakshmi Bhavani,Hitesh Shah,Anju Shukla,Neerja Gupta,Kalpana Gowrishankar,Anand Prahalad Rao,Madhulika Kabra,Meenal Agarwal,Prajnya Ranganath,Prajnya Ranganath,Alka V. Ekbote,Shubha R. Phadke,Asha Kamath,Ashwin Dalal,Katta M. Girisha +14 more
TL;DR: The clinical, radiographic and molecular findings in all individuals with molecularly proven MONA from the present cohort and previous reports are characterized, and a comprehensive review of the MMP2 related disorders is provided.
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Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India
Vignesh Gopalakrishnan,Kriti Joshi,Shubha R. Phadke,Preeti Dabadghao,Meenal Agarwal,Vinita Das,Suruchi Jain,Sanjay Gambhir,Bhaskar Gupta,Amita Pandey,Deepa Kapoor,Mala Kumar,Vijayalakshmi Bhatia +12 more
TL;DR: An outreach program for newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency can be successfully carried out in similar socio-cultural settings in India.
Journal ArticleDOI
Hemiconvulsion-hemiplegia-epilepsy syndrome with 1q44 microdeletion: causal or chance association.
TL;DR: A 3‐year‐old girl with HHE syndrome with cytogenetic microarray (CMA) showing deletion of 1.8 Mb in 1q44 region is described, likely explanation of preaxial polydactyly in the present patient.
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A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India
Murali D. Bashyam,Ajay K. Chaudhary,E.C. Reddy,V. Reddy,Vishal Acharya,Hampapathalu A. Nagarajaram,Akela Radha Rama Devi,Leena Bashyam,Leena Bashyam,Ashwin Dalal,Neerja Gupta,Madhulika Kabra,Meenal Agarwal,Shubha R. Phadke,R. Tainwala,R. Kumar,S.V. Hariharan +16 more
TL;DR: X‐linked recessive (EDA‐A1), the predominant form of HED, as well as autosomal recessive and dominant (EDAR and EDARADD) inheritance patterns have been identified in affected families.