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Page 1
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Among authors: theodorou e. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaëc N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK. Ganapathi M, et al. Among authors: theodorou e. J Inherit Metab Dis. 2022 Sep;45(5):996-1012. doi: 10.1002/jimd.12526. Epub 2022 Jul 11. J Inherit Metab Dis. 2022. PMID: 35621276 Free PMC article.
Identification of novel mRNAs and lncRNAs associated with mouse experimental colitis and human inflammatory bowel disease.
Rankin CR, Theodorou E, Man Law IK, Rowe L, Kokkotou E, Pekow J, Wang J, Martín MG, Pothoulakis C, Padua D. Rankin CR, et al. Among authors: theodorou e. Am J Physiol Gastrointest Liver Physiol. 2018 Nov 1;315(5):G722-G733. doi: 10.1152/ajpgi.00077.2018. Epub 2018 Jun 28. Am J Physiol Gastrointest Liver Physiol. 2018. PMID: 29953254 Free PMC article.
A Cross-Sectional Survey of Healthcare Professionals' Knowledge, Attitude and Current Behaviours towards Female Fertility Preservation Services within the UK.
Kasaven LS, Mitra A, Chawla M, Murugesu S, Anson N, Ben Nagi J, Theodorou E, Rimmer MP; UKARCOG Working Group; Al-Wattar B, Yazbek J, Jones BP, Saso S. Kasaven LS, et al. Among authors: theodorou e. Cancers (Basel). 2024 Jul 25;16(15):2649. doi: 10.3390/cancers16152649. Cancers (Basel). 2024. PMID: 39123377 Free PMC article.
101 results