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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Jeanne M, Demory H, Moutal A, Vuillaume ML, Blesson S, Thépault RA, Marouillat S, Halewa J, Maas SM, Motazacker MM, Mancini GMS, van Slegtenhorst MA, Andreou A, Cox H, Vogt J, Laufman J, Kostandyan N, Babikyan D, Hancarova M, Bendova S, Sedlacek Z, Aldinger KA, Sherr EH, Argilli E, England EM, Audebert-Bellanger S, Bonneau D, Colin E, Denommé-Pichon AS, Gilbert-Dussardier B, Isidor B, Küry S, Odent S, Redon R, Khanna R, Dobyns WB, Bézieau S, Honnorat J, Lohkamp B, Toutain A, Laumonnier F. Jeanne M, et al. Among authors: andreou a. Am J Hum Genet. 2021 May 6;108(5):951-961. doi: 10.1016/j.ajhg.2021.04.004. Epub 2021 Apr 23. Am J Hum Genet. 2021. PMID: 33894126 Free PMC article.
Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.
Yngvadottir B, Andreou A, Bassaganyas L, Larionov A, Cornish AJ, Chubb D, Saunders CN, Smith PS, Zhang H, Cole Y, Research Consortium GE, Larkin J, Browning L, Turajlic S, Litchfield K, Houlston RS, Maher ER. Yngvadottir B, et al. Among authors: andreou a. Hum Mol Genet. 2022 Aug 25;31(17):3001-3011. doi: 10.1093/hmg/ddac089. Hum Mol Genet. 2022. PMID: 35441217 Free PMC article.
Elongin C (ELOC/TCEB1)-associated von Hippel-Lindau disease.
Andreou A, Yngvadottir B, Bassaganyas L, Clark G, Martin E, Whitworth J, Cornish AJ; Genomics England Research Consortium; Houlston RS, Rich P, Egan C, Hodgson SV, Warren AY, Snape K, Maher ER. Andreou A, et al. Hum Mol Genet. 2022 Aug 23;31(16):2728-2737. doi: 10.1093/hmg/ddac066. Hum Mol Genet. 2022. PMID: 35323939 Free PMC article.
Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.
McGuigan A, Whitworth J, Andreou A, Hearn T; Genomics England Research Consortium; Tischkowitz M, Maher ER. McGuigan A, et al. Among authors: andreou a. Eur J Hum Genet. 2022 Mar;30(3):265-270. doi: 10.1038/s41431-021-01013-6. Epub 2022 Jan 4. Eur J Hum Genet. 2022. PMID: 34983940 Free PMC article. Review.
Extracellular vesicles as potential biomarkers for diagnosis and recurrence detection of hepatocellular carcinoma.
Juratli MA, Pollmann NS, Oppermann E, Mohr A, Roy D, Schnitzbauer A, Michalik S, Vogl T, Stoecklein NH, Houben P, Katou S, Becker F, Hoelzen JP, Andreou A, Pascher A, Bechstein WO, Struecker B. Juratli MA, et al. Among authors: andreou a. Sci Rep. 2024 Mar 4;14(1):5322. doi: 10.1038/s41598-024-55888-8. Sci Rep. 2024. PMID: 38438456 Free PMC article.
A young patient with systemic lupus erythematosus and chest pain.
Andreou AY, Strika J, Ntoskas T, Nikiforou D. Andreou AY, et al. Eur Heart J Case Rep. 2024 Feb 10;8(2):ytae081. doi: 10.1093/ehjcr/ytae081. eCollection 2024 Feb. Eur Heart J Case Rep. 2024. PMID: 38405195 Free PMC article. No abstract available.
405 results