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Page 1
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
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Bernkopf M, Abdullah UB, Bush SJ, Wood KA, Ghaffari S, Giannoulatou E, Koelling N, Maher GJ, Thibaut LM, Williams J, Blair EM, Kelly FB, Bloss A, Burkitt-Wright E, Canham N, Deng AT, Dixit A, Eason J, Elmslie F, Gardham A, Hay E, Holder M, Homfray T, Hurst JA, Johnson D, Jones WD, Kini U, Kivuva E, Kumar A, Lees MM, Leitch HG, Morton JEV, Németh AH, Ramachandrappa S, Saunders K, Shears DJ, Side L, Splitt M, Stewart A, Stewart H, Suri M, Clouston P, Davies RW, Wilkie AOM, Goriely A. Bernkopf M, et al. Among authors: ramachandrappa s. Nat Commun. 2023 Feb 15;14(1):853. doi: 10.1038/s41467-023-36606-w. Nat Commun. 2023. PMID: 36792598 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
Chitosan Encapsulated Meloxicam Nanoparticles for Sustained Drug Delivery Applications: Preparation, Characterization, and Pharmacokinetics in Wistar Rats.
Yegireddy M, Nadoor P, Rao S, Hanumanthu PB, Rajashekaraiah R, Ramachandrappa SC, Halemani GM, Mannem S, Prasad TNVKV, Ubaradka S. Yegireddy M, et al. Among authors: ramachandrappa sc. Molecules. 2022 Oct 27;27(21):7312. doi: 10.3390/molecules27217312. Molecules. 2022. PMID: 36364138 Free PMC article.
17 results