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PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma.
Polubothu S, Bender N, Muthiah S, Zecchin D, Demetriou C, Martin SB, Malhotra S, Travnickova J, Zeng Z, Böhm M, Barbarot S, Cottrell C, Davies O, Baselga E, Burrows NP, Carmignac V, Diaz JS, Fink C, Haenssle HA, Happle R, Harland M, Majerowski J, Vabres P, Vincent M, Newton-Bishop JA, Bishop DT, Siegel D, Patton EE, Topf M, Rajan N, Drolet B, Kinsler VA. Polubothu S, et al. Among authors: demetriou c. J Invest Dermatol. 2023 Jun;143(6):1042-1051.e3. doi: 10.1016/j.jid.2022.09.661. Epub 2022 Dec 23. J Invest Dermatol. 2023. PMID: 36566878 Free PMC article.
Analysis of CDKN1C in fetal growth restriction and pregnancy loss.
Suntharalingham JP, Ishida M, Buonocore F, Del Valle I, Solanky N, Demetriou C, Regan L, Moore GE, Achermann JC. Suntharalingham JP, et al. Among authors: demetriou c. F1000Res. 2019 Jan 23;8:90. doi: 10.12688/f1000research.15016.2. eCollection 2019. F1000Res. 2019. PMID: 31497289 Free PMC article. Review.
Disruption of FOXF2 as a Likely Cause of Absent Uvula in an Egyptian Family.
Seselgyte R, Bryant D, Demetriou C, Ishida M, Peskett E, Moreno N, Morrogh D, Sell D, Lees M, Farrall M, Moore GE, Sommerlad B, Pauws E, Stanier P. Seselgyte R, et al. Among authors: demetriou c. J Dent Res. 2019 Jun;98(6):659-665. doi: 10.1177/0022034519837245. Epub 2019 Mar 27. J Dent Res. 2019. PMID: 30917284 Free PMC article.
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.
Bryant D, Liu Y, Datta S, Hariri H, Seda M, Anderson G, Peskett E, Demetriou C, Sousa S, Jenkins D, Clayton P, Bitner-Glindzicz M, Moore GE, Henne WM, Stanier P. Bryant D, et al. Among authors: demetriou c. Hum Mol Genet. 2018 Jun 1;27(11):1927-1940. doi: 10.1093/hmg/ddy101. Hum Mol Genet. 2018. PMID: 29635513 Free PMC article.
The role and interaction of imprinted genes in human fetal growth.
Moore GE, Ishida M, Demetriou C, Al-Olabi L, Leon LJ, Thomas AC, Abu-Amero S, Frost JM, Stafford JL, Chaoqun Y, Duncan AJ, Baigel R, Brimioulle M, Iglesias-Platas I, Apostolidou S, Aggarwal R, Whittaker JC, Syngelaki A, Nicolaides KH, Regan L, Monk D, Stanier P. Moore GE, et al. Among authors: demetriou c. Philos Trans R Soc Lond B Biol Sci. 2015 Mar 5;370(1663):20140074. doi: 10.1098/rstb.2014.0074. Philos Trans R Soc Lond B Biol Sci. 2015. PMID: 25602077 Free PMC article. Review.
Cause-Specific Excess Mortality During the COVID-19 Pandemic (2020-2021) in 12 Countries of the C-MOR Consortium.
Beeks VV, Achilleos S, Quattrocchi A, Pallari CT, Critselis E, Salameh P, Rahmanian Haghighi MR, Rodriguez-Llanes JM, Ambrosio G, Artemiou A, Gabel J, Bennett CM, Cuthbertson J, Zimmermann C, Schernhammer ES, Costa AJL, de Carvalho LF, Lobato JCP, Athanasiadou M, Critchley JA, Goldsmith LP, Kandelaki L, Glushkova N, Davletov K, Semenova Y, Erzen I, Verstiuk O, Alekkou D, Polemitis A, Charalambous A, Demetriou CA; C-MOR Consortium. Beeks VV, et al. Among authors: demetriou ca. J Epidemiol Glob Health. 2024 May 22. doi: 10.1007/s44197-024-00242-4. Online ahead of print. J Epidemiol Glob Health. 2024. PMID: 38775902 Free article.
145 results