Nitika Setia
10 Papers
14 Citations
Nitika Setia is an academic researcher. The author has contributed to research in topics: Familial hypercholesterolemia & Medicine. The author has an hindex of 4, co-authored 7 publications.
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Papers
Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations.
TL;DR: The spectrum of mutations in cases of homozygous FH in Asian Indians is quite heterogeneous and 40% were novel, while an interesting "Triple hit" case with features of homogeneous FH is reported.
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Familial Hypercholesterolemia: Cascade Screening in Children and Relatives of the Affected.
TL;DR: Cascade screening led to identification of 88 new cases, with a pathogenic mutation, who were at a very high risk of developing premature CAD, and Cascade screening proved to be a successful initiative towards primary prevention of CAD in India.
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Genetic analysis of familial hypercholesterolemia in Asian Indians: a single center study
Nitika Setia,Sireesha Movva,Prahlad Balakrishnan,Ishpreet K. Biji,Jitendra Pal Singh Sawhney,Raman Puri,Anjali Arora,Ratna Dua Puri,Renu Saxena,Sanghamitra Mishra,Sanika Apte,Samarth Kulshrestha,V. L. Ramprasad,Ishwar C. Verma +13 more
TL;DR: Next-generation sequencing technology helped identify new mutations in APOB gene, suggesting that in less-studied populations, it is better to sequence the whole gene rather than test for specific mutations.
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Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients.
Veronica Arora,Nitika Setia,Ashwin Dalal,Maria Celestina Vanaja,Deepti Gupta,Tinku Bali Razdan,Shubha R. Phadke,Renu Saxena,Anshu Rohtagi,Ishwar C. Verma,Ratna Dua Puri +10 more
TL;DR: A clinical-radiological report of seven unrelated patients with molecularly confirmed sialidosis type II is presented and it is proposed that this is a common mutation in north Indians for this rare disorder.
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Co-inheritance of pathogenic variants in PKD1 and PKD2 genes presenting as severe antenatal phenotype of autosomal dominant polycystic kidney disease.
Veronica Arora,Sunita Bijarnia-Mahay,Vaibhav Tiwari,Savita Bansal,Pallav Gupta,Nitika Setia,Ratna Dua Puri,Ishwar C. Verma +7 more
TL;DR: A family with recurrent foetal presentation of ADPKD due to co-inheritance of pathogenic variants in both PKD1 and PKD2 genes is described, with the mother and the father found to be heterozygous for the same variants in the PKD 1 and 2 genes, respectively, as found in the foetus.
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