Rare diseases in the genomic health care: Opportunities and challenges in India

Authors: Datta, Dipanjana

Source: Apollo medicine. 20(2):139-143

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100181295760.0x000001&indx=1&recIds=ETOCvdc_100181295760.0x000001

High Incidence of COL4A Genetic Variants Among a Cohort of Children With Steroid-Resistant Nephrotic Syndrome From Eastern India

Authors: Sinha, Rajiv, Ray Chaudhury, Arpita, Sarkar, Subhankar, Banerjee, Sushmita, Pulai, Smartya, Dasgupta, Saugat, Muorah, Mordi, Datta, Dipanjana

Source: Kidney international reports. 7(4):913-915

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100179163278.0x000001&indx=1&recIds=ETOCvdc_100179163278.0x000001

Hypercalcemia in an Infant with Primary Hyperoxaluria Type 2: A Novel Association.

Authors: Singhania, Pankaj, Ghosh, Arunava, Bhattacharjee, Rana, Chowdhury, Subhankar, Datta, Dipanjana

Source: Indian Journal of Nephrology; Sep/Oct2023, Vol. 33 Issue 5, p387-391, 5p

Subject Terms: HYPERCALCEMIA, GENETIC mutation, GENETIC testing, INBORN errors of carbohydrate metabolism, KIDNEY calcification, URINARY calculi, SYMPTOMS

A Rare Differences of Sex Development: Male Sex Reversal Syndrome (NonSyndromic 46, XX with Negative Sex-Determining Region of Y Chromosome Gene).

Authors: Singhania, Pankaj, Ghosh, Arunava, Das, Debaditya, Neogi, Subhasis, Bhattacharjee, Rana, Datta, Dipanjana

Source: Journal of Indian Association of Pediatric Surgeons; Mar/Apr2023, Vol. 28 Issue 2, p154-159, 6p

Subject Terms: ULTRASONIC imaging, FOLLICLE-stimulating hormone, DNA, SEX differentiation disorders, DISEASES in men, GONADAL diseases, TESTOSTERONE, ESTRADIOL, MEN, GENES, SEX determination, ELECTROLYTES, UROLOGICAL surgery

Aromatase deficiency in a tall man: Case report of two novel mutations and review of literature

Authors: Singhania, Pankaj, Dash, Debasish, Dhar, Abhranil, Biswas, Pritam, Gargari, Piyas, Bhattacharjee, Rana, Chowdhury, Subhankar, Datta, Dipanjana, Banerjee, Emili

Source: In Bone Reports December 2022 17