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Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).
Meyer E, Ricketts C, Morgan NV, Morris MR, Pasha S, Tee LJ, Rahman F, Bazin A, Bessières B, Déchelotte P, Yacoubi MT, Al-Adnani M, Marton T, Tannahill D, Trembath RC, Fallet-Bianco C, Cox P, Williams D, Maher ER. Meyer E, et al. Among authors: ricketts c. Am J Hum Genet. 2010 Mar 12;86(3):471-8. doi: 10.1016/j.ajhg.2010.02.004. Epub 2010 Mar 4. Am J Hum Genet. 2010. PMID: 20206334 Free PMC article.
Germline SDHB mutations and familial renal cell carcinoma.
Ricketts C, Woodward ER, Killick P, Morris MR, Astuti D, Latif F, Maher ER. Ricketts C, et al. J Natl Cancer Inst. 2008 Sep 3;100(17):1260-2. doi: 10.1093/jnci/djn254. Epub 2008 Aug 26. J Natl Cancer Inst. 2008. PMID: 18728283
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility.
Astuti D, Morris MR, Cooper WN, Staals RH, Wake NC, Fews GA, Gill H, Gentle D, Shuib S, Ricketts CJ, Cole T, van Essen AJ, van Lingen RA, Neri G, Opitz JM, Rump P, Stolte-Dijkstra I, Müller F, Pruijn GJ, Latif F, Maher ER. Astuti D, et al. Among authors: ricketts cj. Nat Genet. 2012 Feb 5;44(3):277-84. doi: 10.1038/ng.1071. Nat Genet. 2012. PMID: 22306653
UBE2QL1 is disrupted by a constitutional translocation associated with renal tumor predisposition and is a novel candidate renal tumor suppressor gene.
Wake NC, Ricketts CJ, Morris MR, Prigmore E, Gribble SM, Skytte AB, Brown M, Clarke N, Banks RE, Hodgson S, Turnell AS, Maher ER, Woodward ER. Wake NC, et al. Among authors: ricketts cj. Hum Mutat. 2013 Dec;34(12):1650-61. doi: 10.1002/humu.22433. Epub 2013 Oct 7. Hum Mutat. 2013. PMID: 24000165 Free PMC article.
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.
Ricketts CJ, Forman JR, Rattenberry E, Bradshaw N, Lalloo F, Izatt L, Cole TR, Armstrong R, Kumar VK, Morrison PJ, Atkinson AB, Douglas F, Ball SG, Cook J, Srirangalingam U, Killick P, Kirby G, Aylwin S, Woodward ER, Evans DG, Hodgson SV, Murday V, Chew SL, Connell JM, Blundell TL, Macdonald F, Maher ER. Ricketts CJ, et al. Hum Mutat. 2010 Jan;31(1):41-51. doi: 10.1002/humu.21136. Hum Mutat. 2010. PMID: 19802898
278 results