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Page 1
Severe Hypertriglyceridaemia and Chylomicronaemia Syndrome-Causes, Clinical Presentation, and Therapeutic Options.
Bashir B, Ho JH, Downie P, Hamilton P, Ferns G, Datta D, Cegla J, Wierzbicki AS, Dawson C, Jenkinson F, Delaney H, Mansfield M, Teoh Y, Miedzybrodzka Z, Haso H, Durrington PN, Soran H. Bashir B, et al. Among authors: miedzybrodzka z. Metabolites. 2023 Apr 30;13(5):621. doi: 10.3390/metabo13050621. Metabolites. 2023. PMID: 37233662 Free PMC article. Review.
Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.
Loveday C, Garrett A, Law P, Hanks S, Poyastro-Pearson E, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, 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, Walker L; Breast and Ovarian Cancer Susceptibility Collaboration; Eccles D, Evans DG, Snape K, Hanson H, Houlston RS, Turnbull C. Loveday C, et al. Among authors: miedzybrodzka z. Ann Oncol. 2022 Dec;33(12):1318-1327. doi: 10.1016/j.annonc.2022.09.152. Epub 2022 Sep 17. Ann Oncol. 2022. PMID: 36122798 Free article.
An investigation of the clinical impact and therapeutic relevance of a DNA damage immune response (DDIR) signature in patients with advanced gastroesophageal adenocarcinoma.
Baxter MA, Spender LC, Cairns D, Walsh S, Oparka R, Porter RJ, Bray S, Skinner G, King S, Turbitt J, Collinson D, Miedzybrodzka ZH, Jellema G, Logan G, Kennedy RD, Turkington RC, McLean MH, Swinson D, Grabsch HI, Lord S, Seymour MJ, Hall PS, Petty RD. Baxter MA, et al. Among authors: miedzybrodzka zh. ESMO Open. 2024 May;9(5):103450. doi: 10.1016/j.esmoop.2024.103450. Epub 2024 May 13. ESMO Open. 2024. PMID: 38744099 Free PMC article. Clinical Trial.
Joint ABS-UKCGG-CanGene-CanVar consensus regarding the use of CanRisk in clinical practice.
Tsoulaki O, Tischkowitz M, Antoniou AC, Musgrave H, Rea G, Gandhi A, Cox K, Irvine T, Holcombe S, Eccles D, Turnbull C, Cutress R; Meeting Attendees; Archer S, Hanson H. Tsoulaki O, et al. Br J Cancer. 2024 Jun;130(12):2027-2036. doi: 10.1038/s41416-024-02733-4. Epub 2024 Jun 4. Br J Cancer. 2024. PMID: 38834743 Free PMC article. Review.
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
Hanson H, Kulkarni A, Loong L, Kavanaugh G, Torr B, Allen S, Ahmed M, Antoniou AC, Cleaver R, Dabir T, Evans DG, Golightly E, Jewell R, Kohut K, Manchanda R, Murray A, Murray J, Ong KR, Rosenthal AN, Woodward ER, Eccles DM, Turnbull C, Tischkowitz M; Consensus meeting attendees; Lalloo F. Hanson H, et al. J Med Genet. 2023 May;60(5):417-429. doi: 10.1136/jmg-2022-108898. Epub 2022 Nov 21. J Med Genet. 2023. PMID: 36411032 Free PMC article.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 Free PMC article.
Immune microenvironment modulation following neoadjuvant therapy for oesophageal adenocarcinoma: a translational analysis of the DEBIOC clinical trial.
Scanlon E, Lavery A, Albraikat M, Stevenson L, Kennedy C, Byrne R, Walker A, Mullan-Young B, McManus DT, Virdee PS, Elhussein L, Turbitt J, Collinson D, Miedzybrodzka Z, Van Schaeybroeck S, McQuaid S, James JA, Craig SG, Blayney JK, Petty RD, Harkin DP, Kennedy RD, Eatock MM, Middleton MR, Thomas A, Turkington RC. Scanlon E, et al. Among authors: miedzybrodzka z. ESMO Open. 2024 Nov;9(11):103930. doi: 10.1016/j.esmoop.2024.103930. Epub 2024 Oct 11. ESMO Open. 2024. PMID: 39395265 Free PMC article.
188 results