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Directory of human genetic services in India - 2007

Singh, J.R.; Singh, A.R.; Singh, A.R. (2010)

[No abstract available]

PPARG and ADIPOQ gene polymorphisms increase type 2 diabetes mellitus risk in Asian Indian Sikhs: Pro12Ala still remains as the strongest predictor

Sanghera, D.K.; Demirci, F.Y.; Been, L.; Ortega, L.; Ralhan, S.; Wander, G.S.; Mehra, N.K.; Singh, J.; Aston, C.E.; Mulvihill, J.J.; Kamboh, I.M. (2010)

We have examined the association of 14 tagging single nucleotide polymorphisms (tagSNPs) in peroxisome proliferator activated receptor-? transcripts 1 and 2 (PPARG1 and 2) and 5 tagSNPs in adiponectin (ADIPOQ) genes for ...

A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family

Saini, S.; Robinson, P.N.; Singh, J.R.; Vanita, V. (2012)

To localize and identify the gene linked with non-syndromic autosomal dominant retinitis pigmentosa (adRP) with high but not complete penetrance in an Indian family. A detailed family history and clinical data were recorded. ...

A low frequency variant within the GWAS locus of MTNR1B affects fasting glucose concentrations: Genetic risk is modulated by obesity

Been, L.F.; Hatfield, J.L.; Shankar, A.; Aston, C.E.; Ralhan, S.; Wander, G.S.; Mehra, N.K.; Singh, J.R.; Mulvihill, J.J.; Sanghera, D.K. (2012)

Two common variants (rs1387153, rs10830963) in MTNR1B have been reported to have independent effects on fasting blood glucose (FBG) levels with increased risk to type 2 diabetes (T2D) in recent genome-wide association ...

Variants in KCNQ1 increase type II diabetes susceptibility in South Asians: A study of 3,310 subjects from India and the US

Been, L.F.; Ralhan, S.; Wander, G.S.; Mehra, N.K.; Singh, J.; Mulvihill, J.J.; Aston, C.E.; Sanghera, D.K. (2011)

Background: Polymorphisms in intron 15 of potassium voltage-gated channel, KQT-like subfamily member 1 (KCNQ1) gene have been associated with type II diabetes (T2D) in Japanese genome-wide association studies (GWAS). More ...

Ring chromosome 22: A review of the literature and first report from India

Mahajan, S.; Kaur, A.; Singh, Jai Roop (2012)

Ring chromosome 22 [r(22)], a rare cytogenetic finding, has been described in nearly 70 cases to date. Cytogenetic investigations were carried out on a 5-year-old male child with microcephaly and intellectual disability. ...

Interleukin 1ß (+3954, -511 and -31) polymorphism in chronic periodontitis patients from North India

Amirisetty, Ramesh; Patel, Ritu Prabha; Das, Satrupa; Saraf, Jitendra; Jyothy, Akka; Munshi, Anjana (Informa Healthcare, 2015)

Objective. Several studies have implicated the role of interleukin-1 in various chronic diseases including periodontitis. The present study was carried out with an aim to evaluate the role of interleukin 1? polymorphisms, ...

Dietary Patterns and Breast Cancer Risk: A Multi-Centre Case Control Study among North Indian Women

Shridhar, Krithiga; Singh, Gurpreet; Dey, Subhojit; Dhatt, Sarvdeep Singh; Gill, Jatinder Paul Singh; Goodman, Michael; Magsumbol, Melina Samar; Pearce, Neil; Singh, Sandeep; Singh, Archna; Singh, Preeti; Thakur, Jarnail Singh; Dhillon, Preet Kaur (mdpi, 2018)

Evidence from India, a country with unique and distinct food intake patterns often characterized by lifelong adherence, may offer important insight into the role of diet in breast cancer etiology. We evaluated the association ...