- De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases
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Mukherjee , Chaturvedi LS, Srivastava S, Mittal RD, Mittal B
- KMID: 1097259
- Exp Mol Med.
- 2003 Apr;35(2):113-117.
Dinucleotide repeat polymorphism based genetic analysis is a powerful approach to gain insight into rare genetic events like germline mosaicism and de novo mutations. The loss of heterozygosity of polymorphic... -
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- Point mutation and polymorphism in Duchenne/Becker muscular dystrophy (D/BMD) patients
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Chaturvedi LS, Mukherjee , Srivastava S, Mittal RD, Mittal B
- KMID: 1457538
- Exp Mol Med.
- 2001 Dec;33(4):251-256.
Duchenne and Becker muscular dystrophies (D/BMD) are caused by mutations in the dystrophin gene. Two-thirds of patients have large intragenic deletions or duplications and the remaining one-third have point mutations,... -
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- Breast Metastasis Arising from Ileal Neuroendocrine Tumor: an Unusual Presentation
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Solanki R, Gupta P, Sood A, Mittal B
- KMID: 2545316
- Nucl Med Mol Imaging.
- 2023 Aug;57(4):201-205.
- doi: 10.1007/s13139-023-00792-8
Neuroendocrine tumors (NETs) up to 80% may have metastatic disease to lymph nodes, liver, and bones upon diagnosis due to their indolent course and benign nature. However, metastasis to the... -
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- Hot Embolus Artifact Mimicking Disease Progression in Post‑therapy 177Lu‑DOTATATE Scan: Incremental Value of SPECT/CT
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Aggarwal P, Anwariya A, Kavanal A, Sood A, Jena S, Mittal B
- KMID: 2543184
- Nucl Med Mol Imaging.
- 2023 Jun;57(3):159-161.
- doi: 10.1007/s13139-023-00789-3
Peptide receptor radionuclide therapy (PRRT) has become an established treatment for patients with inoperable and/or metastatic, well-differentiated neuroendocrine tumors with overexpression of somatostatin receptor type 2 (SSTR-2). The post-therapy 177Lu-DOTATATE... -
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- Genotype-Phenotype correlation of SMN locus genes in spinal muscular atrophy patients from India
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Kesari A, Idris MM, Chandak GR, Mittal B
- KMID: 1056225
- Exp Mol Med.
- 2005 Jun;37(3):147-154.
Spinal muscular atrophy has been classified into four groups based on the age of onset and clinical severity of the disease. Homozygous deletion in SMN1 gene causes the disease but... -
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- Achalasia Is Associated With eNOS4a4a, iNOS22GA, and nNOS29TT Genotypes: A Case-control Study
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Singh R, Ghoshal UC, Misra A, Mittal B
- KMID: 2433477
- J Neurogastroenterol Motil.
- 2015 Jul;21(3):380-389.
- doi: 10.5056/jnm14123
BACKGROUND/AIMS: Achalasia is known to result from degeneration of inhibitory neurons, which are mostly nitrinergic. Characteristic features of achalasia include incomplete lower esophageal sphincter (LES) relaxation and esophageal aperistalsis. Nitric... -
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- Microsatellite instability and its correlation with clinicopathological features in a series of thyroid tumors prevalent in iodine deficient areas
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Vaish M, Mishra A, Kaushal M, Mishra SK, Mittal B
- KMID: 1380206
- Exp Mol Med.
- 2004 Apr;36(2):122-129.
Thyroid tumors display diverse spectrum of histopathological groups with geographic variation in its prevalence. Influence of iodine deficiency (a major causative factor) in its etiology, prevalence, or aggressiveness is debatable... -
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