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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. Among authors: rich p. Hum Mol Genet. 2022 Aug 23;31(16):2728-2737. doi: 10.1093/hmg/ddac066. Hum Mol Genet. 2022. PMID: 35323939 Free PMC article.
Are treatment response assessment maps (TRAMs) and 18 F-choline positron emission tomography the future of central nervous system lymphoma imaging?
Kowa JY, Millard T, Goldman A, Sharma RK, Attygalle A, Mahalingam P, Marshall K, Welsh L, Li S, Mackinnon A, Rich P, Nicholson E, Iyengar S, El-Sharkawi D, Chau I, Cunningham D, Sharma B. Kowa JY, et al. Among authors: rich p. Br J Haematol. 2021 Oct;195(1):e116-e119. doi: 10.1111/bjh.17632. Epub 2021 Jun 9. Br J Haematol. 2021. PMID: 34109610 No abstract available.
Prenatal Diagnosis of WAGR Syndrome.
Tezcan B, Rich P, Bhide A. Tezcan B, et al. Among authors: rich p. Case Rep Obstet Gynecol. 2015;2015:928585. doi: 10.1155/2015/928585. Epub 2015 Oct 28. Case Rep Obstet Gynecol. 2015. PMID: 26605098 Free PMC article.
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL. Zollo M, et al. Among authors: rich p. Brain. 2017 Apr 1;140(4):940-952. doi: 10.1093/brain/awx014. Brain. 2017. PMID: 28334956 Free PMC article.
MRI of the foetal brain.
Rich P, Jones R, Britton J, Foote S, Thilaganathan B. Rich P, et al. Clin Radiol. 2007 Apr;62(4):303-13. doi: 10.1016/j.crad.2006.07.014. Epub 2007 Jan 23. Clin Radiol. 2007. PMID: 17331823 Review.
636 results