Search Results - "Nitika, Setia"

Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients by Arora, Veronica, Setia, Nitika, Dalal, Ashwin, Vanaja, Maria Celestina, Gupta, Deepti, Razdan, Tinku, Phadke, Shubha R., Saxena, Renu, Rohtagi, Anshu, Verma, Ishwar C., Puri, Ratna Dua

“…Sialidosis, an autosomal recessive disorder, is characterized by progressive lysosomal storage of sialylated glycopeptides and oligosaccharides. It occurs as a…”
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Familial Hypercholesterolemia: Cascade Screening in Children and Relatives of the Affected by Setia, Nitika, Saxena, Renu, Sawhney, J. P. S., Verma, Ishwar C.

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Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations by Setia, Nitika, Saxena, Renu, Arora, Anjali, Verma, Ishwar C

“…Abstract Background and aims Homozygous familial hypercholesterolemia (FH) is a rare but serious, inherited disorder of lipid metabolism characterized by very…”
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Late onset Pompe Disease in India – Beyond the Caucasian phenotype by Puri, Ratna Dua, Setia, Nitika, N, Vinu, Jagadeesh, Sujatha, Nampoothiri, Sheela, Gupta, Neerja, Muranjan, Mamta, Bhat, Meenakshi, Girisha, Katta M, Kabra, Madhulika, Verma, Jyotsna, Thomas, Divya C., Biji, Ishpreet, Raja, Jayarekha, Makkar, Ravinder, Verma, Ishwar C, Kishnani, Priya S.

“…•We report 20 LOPD patients from India.•The common c.−32–13T>G (IVS1) Caucasian mutation is absent.•Increased severity of disease phenotype with earlier age at…”
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Familial Hypercholesterolemia: Cascade Screening in Children and Relatives of the Affected by Setia, Nitika, Saxena, Renu, Sawhney, J. P. S., Verma, Ishwar C.

“…Objective Familial Hypercholesterolemia (FH) is an inherited disorder of lipid metabolism characterized by very high low density lipoprotein (LDL) cholesterol…”
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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 by Arora, Veronica, Bijarnia-Mahay, Sunita, Tiwari, Vaibhav, Bansal, Savita, Gupta, Pallav, Setia, Nitika, Puri, Ratna D., Verma, Ishwar C.

“…Autosomal dominant polycystic kidney disease (ADPKD) is caused by pathogenic variants in either PKD1 or PKD2 genes. Disease severity is dependent on various…”
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Genetic analysis of familial hypercholesterolemia in Asian Indians: A single-center study by Setia, Nitika, Movva, Sireesha, Balakrishnan, Prahlad, Biji, Ishpreet K., Sawhney, Jitendra Pal Singh, Puri, Raman, Arora, Anjali, Puri, Ratna D., Saxena, Renu, Mishra, Sanghamitra, Apte, Sanika, Kulshrestha, Samarth, Ramprasad, Vedam Lakshmi, Verma, Ishwar C.

“…Familial hypercholesterolemia (FH), an autosomal codominant disorder characterized by very high low-density lipoprotein cholesterol, is strongly associated…”
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FISH is not Suitable as a Standalone Test for Detecting Fetal Chromosomal Abnormalities by Lall, Meena, Mahajan, Surbhi, Saviour, Pushpa, Paliwal, Preeti, Joshi, Anju, Setia, Nitika, Verma, Ishwar C.

“…Karyotyping and fluorescence in situ hybridization (FISH) detect fetal chromosome abnormalities. The choice between karyotyping and FISH is still debatable. In…”
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PM292 Genetic Characterization of Familial Hypercholesterolemia in Indian Population by Setia, Nitika, Saxena, Renu, Sawhney, Jps, Puri, Ratna, Verma, Ishwar C, Arora, Anjali

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Do high LDL levels justify for inclusion in metabolic syndrome criteria? by Anjali Arora, Bobby V Khan, Vrinda Arora, Nitika Setia

“…Metabolic syndrome (MetS) includes hypertension, diabetes, abdominal obesity, low high-density lipoprotein (HDL) and high triglyceride (TG) levels. Current…”
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Chromosomal instability in the lymphocytes of breast cancer patients by Harsimran, Kaur, Kaur, Monga Gaganpreet, Nitika, Setia, Meena, Sudan, Uppal, MS, Yamini, Batra, A. P. S, Vasudha, Sambyal

“…Genomic instability in the tumor tissue has been correlated with tumor progression. In the present study, chromosomal aberrations (CAs) in peripheral blood…”
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Chromosomal instability in the lymphocytes of breast cancer patients by Harsimran, Kaur, Kaur, Monga Gaganpreet, Nitika, Setia, Meena, Sudan, M S, Uppal, Yamini, A P S, Batra, Vasudha, Sambyal

“…Genomic instability in the tumor tissue has been correlated with tumor progression. In the present study, chromosomal aberrations (CAs) in peripheral blood…”
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