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Page 1
The melanocortin receptors and their accessory proteins.
Ramachandrappa S, Gorrigan RJ, Clark AJ, Chan LF. Ramachandrappa S, et al. Front Endocrinol (Lausanne). 2013 Feb 8;4:9. doi: 10.3389/fendo.2013.00009. eCollection 2013. Front Endocrinol (Lausanne). 2013. PMID: 23404466 Free PMC article.
Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity.
Asai M, Ramachandrappa S, Joachim M, Shen Y, Zhang R, Nuthalapati N, Ramanathan V, Strochlic DE, Ferket P, Linhart K, Ho C, Novoselova TV, Garg S, Ridderstråle M, Marcus C, Hirschhorn JN, Keogh JM, O'Rahilly S, Chan LF, Clark AJ, Farooqi IS, Majzoub JA. Asai M, et al. Among authors: ramachandrappa s. Science. 2013 Jul 19;341(6143):275-8. doi: 10.1126/science.1233000. Science. 2013. PMID: 23869016 Free PMC article.
Genetic approaches to understanding human obesity.
Ramachandrappa S, Farooqi IS. Ramachandrappa S, et al. J Clin Invest. 2011 Jun;121(6):2080-6. doi: 10.1172/JCI46044. Epub 2011 Jun 1. J Clin Invest. 2011. PMID: 21633175 Free PMC article. Review.
Rare variants in single-minded 1 (SIM1) are associated with severe obesity.
Ramachandrappa S, Raimondo A, Cali AM, Keogh JM, Henning E, Saeed S, Thompson A, Garg S, Bochukova EG, Brage S, Trowse V, Wheeler E, Sullivan AE, Dattani M, Clayton PE, Datta V, Bruning JB, Wareham NJ, O'Rahilly S, Peet DJ, Barroso I, Whitelaw ML, Farooqi IS. Ramachandrappa S, et al. J Clin Invest. 2013 Jul;123(7):3042-50. doi: 10.1172/JCI68016. Epub 2013 Jun 17. J Clin Invest. 2013. PMID: 23778139 Free PMC article.
Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features.
Bonnefond A, Raimondo A, Stutzmann F, Ghoussaini M, Ramachandrappa S, Bersten DC, Durand E, Vatin V, Balkau B, Lantieri O, Raverdy V, Pattou F, Van Hul W, Van Gaal L, Peet DJ, Weill J, Miller JL, Horber F, Goldstone AP, Driscoll DJ, Bruning JB, Meyre D, Whitelaw ML, Froguel P. Bonnefond A, et al. Among authors: ramachandrappa s. J Clin Invest. 2013 Jul;123(7):3037-41. doi: 10.1172/JCI68035. Epub 2013 Jun 17. J Clin Invest. 2013. PMID: 23778136 Free PMC article.
Altered IL-6 signalling and risk of tuberculosis: a multi-ancestry mendelian randomisation study.
Hamilton F, Schurz H, Yates TA, Gilchrist JJ, Möller M, Naranbhai V, Ghazal P, Timpson NJ; Genes & Health Research Team; International Tuberculosis Host Genetics Consortium; Parks T, Pollara G. Hamilton F, et al. Lancet Microbe. 2024 Nov 20:100922. doi: 10.1016/S2666-5247(24)00162-9. Online ahead of print. Lancet Microbe. 2024. PMID: 39579785 Free article.
Genetic architecture of routinely acquired blood tests in a British South Asian cohort.
Jacobs BM, Stow D, Hodgson S, Zöllner J, Samuel M, Kanoni S, Bidi S; Genes & Health Research Team; Walter K, Langenberg C, Dobson R, Finer S, Morton C, Siddiqui MK, Martin HC, Pietzner M, Mathur R, van Heel DA. Jacobs BM, et al. Nat Commun. 2024 Oct 16;15(1):8929. doi: 10.1038/s41467-024-53091-x. Nat Commun. 2024. PMID: 39414775 Free PMC article.
Thyroglossal duct cyst in the superior mediastinum.
Rao A, Hanagud B, Chandrashekarappa S, Shetty S, Ramachandrappa S, Wali M. Rao A, et al. Among authors: ramachandrappa s. Indian J Thorac Cardiovasc Surg. 2024 Sep;40(5):594-596. doi: 10.1007/s12055-024-01686-w. Epub 2024 Jan 25. Indian J Thorac Cardiovasc Surg. 2024. PMID: 39156061
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
Szakszon K, Lourenco CM, Callewaert BL, Geneviève D, Rouxel F, Morin D, Denommé-Pichon AS, Vitobello A, Patterson WG, Louie R, Pinto E Vairo F, Klee E, Kaiwar C, Gavrilova RH, Agre KE, Jacquemont S, Khadijé J, Giltay J, van Gassen K, Merő G, Gerkes E, Van Bon BW, Rinne T, Pfundt R, Brunner HG, Caluseriu O, Grasshoff U, Kehrer M, Haack TB, Khelifa MM, Bergmann AK, Cueto-González AM, Martorell AC, Ramachandrappa S, Sawyer LB, Fasel P, Braun D, Isis A, Superti-Furga A, McNiven V, Chitayat D, Ahmed SA, Brennenstuhl H, Schwaibolf EM, Battisti G, Parmentier B, Stevens SJC. Szakszon K, et al. Among authors: ramachandrappa s. J Med Genet. 2024 Jan 19;61(2):132-141. doi: 10.1136/jmg-2022-109030. J Med Genet. 2024. PMID: 37580113
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