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181 results

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Page 1
Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis.
Qureshi N, Woods B, Neves de Faria R, Saramago Goncalves P, Cox E, Leonardi Bee J, Condon L, Weng S, Akyea RK, Iyen B, Roderick P, Humphries SE, Rowlands W, Watson M, Haralambos K, Kenny R, Datta D, Miedzybrodzka Z, Byrne C, Kai J. Qureshi N, et al. Among authors: miedzybrodzka z. Health Technol Assess. 2023 Oct;27(16):1-140. doi: 10.3310/CTMD0148. Health Technol Assess. 2023. PMID: 37924278 Free PMC article.
Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service.
Maher ER, Adlard J, Barwell J, Brady AF, Brennan P, Cook J, Crawford GS, Dabir T, Davidson R, Dyer R, Harrison R, Forde C, Halliday D, Hanson H, Hay E, Higgs J, Jones M, Lalloo F, Miedzybrodzka Z, Ong KR, Pelz F, Ruddy D, Snape K, Whitworth J, Sandford RN. Maher ER, et al. Among authors: miedzybrodzka z. Br J Cancer. 2022 May;126(9):1339-1345. doi: 10.1038/s41416-022-01724-7. Epub 2022 Feb 19. Br J Cancer. 2022. PMID: 35184155 Free PMC article.
22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium.
Baig SS, Strong M, Rosser E, Taverner NV, Glew R, Miedzybrodzka Z, Clarke A, Craufurd D; UK Huntington’s Disease Prediction Consortium; Quarrell OW. Baig SS, et al. Among authors: miedzybrodzka z. Eur J Hum Genet. 2016 Oct;24(10):1396-402. doi: 10.1038/ejhg.2016.36. Epub 2016 May 11. Eur J Hum Genet. 2016. PMID: 27165004 Free PMC article.
Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences.
Quarrell OW, Clarke AJ, Compton C, de Die-Smulders CEM, Fryer A, Jenkins S, Lahiri N, MacLeod R, Miedzybrodzka Z, Morrison PJ, Musgrave H, O'Driscoll M, Strong M, van Belzen MJ, Vermeer S, Verschuuren-Bemelmans CC, Bijlsma EK. Quarrell OW, et al. Among authors: miedzybrodzka z. Am J Med Genet B Neuropsychiatr Genet. 2018 Jan;177(1):35-39. doi: 10.1002/ajmg.b.32582. Epub 2017 Nov 2. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 29095566 Free article.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.
Mavaddat N, Peock S, Frost D, Ellis S, Platte R, Fineberg E, Evans DG, Izatt L, Eeles RA, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Tischkowitz M, Douglas F, Hodgson S, Walker L, Porteous ME, Morrison PJ, Side LE, Kennedy MJ, Houghton C, Donaldson A, Rogers MT, Dorkins H, Miedzybrodzka Z, Gregory H, Eason J, Barwell J, McCann E, Murray A, Antoniou AC, Easton DF; EMBRACE. Mavaddat N, et al. Among authors: miedzybrodzka z. J Natl Cancer Inst. 2013 Jun 5;105(11):812-22. doi: 10.1093/jnci/djt095. Epub 2013 Apr 29. J Natl Cancer Inst. 2013. PMID: 23628597
Germline mutations in RAD51D confer susceptibility to ovarian cancer.
Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, Frankum JR, Bowden G, Kalmyrzaev B, Warren-Perry M, Snape K, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L; Breast Cancer Susceptibility Collaboration (UK); Eccles D, Evans DG, Renwick A, Seal S, Lord CJ, Ashworth A, Reis-Filho JS, Antoniou AC, Rahman N. Loveday C, et al. Among authors: miedzybrodzka z. Nat Genet. 2011 Aug 7;43(9):879-882. doi: 10.1038/ng.893. Nat Genet. 2011. PMID: 21822267 Free PMC article.
181 results