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2,012 results

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Page 1
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
Zhang C, Jolly A, Shayota BJ, Mazzeu JF, Du H, Dawood M, Soper PC, Ramalho de Lima A, Ferreira BM, Coban-Akdemir Z, White J, Shears D, Thomson FR, Douglas SL, Wainwright A, Bailey K, Wordsworth P, Oldridge M, Lester T, Calder AD, Dumic K, Banka S, Donnai D, Jhangiani SN, Potocki L, Chung WK, Mora S, Northrup H, Ashfaq M, Rosenfeld JA, Mason K, Pollack LC, McConkie-Rosell A, Kelly W, McDonald M, Hauser NS, Leahy P, Powell CM, Boy R, Honjo RS, Kok F, Martelli LR, Filho VO, Genomics England Research Consortium, Muzny DM, Gibbs RA, Posey JE, Liu P, Lupski JR, Sutton VR, Carvalho CMB. Zhang C, et al. Among authors: bailey k. HGG Adv. 2021 Dec 3;3(1):100074. doi: 10.1016/j.xhgg.2021.100074. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35047859 Free PMC article.
Variable skeletal phenotypes associated with biallelic variants in PRKG2.
Pagnamenta AT, Diaz-Gonzalez F, Banos-Pinero B, Ferla MP, Toosi MB, Calder AD, Karimiani EG, Doosti M, Wainwright A, Wordsworth P, Bailey K, Ejeskär K, Lester T, Maroofian R, Heath KE, Tajsharghi H, Shears D, Taylor JC; Genomics England Research Consortium. Pagnamenta AT, et al. Among authors: bailey k. J Med Genet. 2022 Oct;59(10):947-950. doi: 10.1136/jmedgenet-2021-108027. Epub 2021 Nov 15. J Med Genet. 2022. PMID: 34782440 Free PMC article. No abstract available.
Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts.
Belot A, Rice GI, Omarjee SO, Rouchon Q, Smith EMD, Moreews M, Tusseau M, Frachette C, Bournhonesque R, Thielens N, Gaboriaud C, Rouvet I, Chopin E, Hoshino A, Latour S, Ranchin B, Cimaz R, Romagnani P, Malcus C, Fabien N, Sarda MN, Kassai B, Lega JC, Decramer S, Abou-Jaoude P, Bruce IN, Simonet T, Bardel C, Rollat-Farnier PA, Viel S, Reumaux H, O'Sullivan J, Walzer T, Mathieu AL, Marenne G, Ludwig T, Genin E, Ellingford J, Bader-Meunier B, Briggs TA, Beresford MW, Crow YJ; FREX Consortium; GENIAL Investigators; UK JSLE Study Group. Belot A, et al. Lancet Rheumatol. 2020 Feb;2(2):e99-e109. doi: 10.1016/S2665-9913(19)30142-0. Epub 2020 Jan 13. Lancet Rheumatol. 2020. PMID: 38263665
Muscle Biopsy Findings in Combination With Myositis-Specific Autoantibodies Aid Prediction of Outcomes in Juvenile Dermatomyositis.
Deakin CT, Yasin SA, Simou S, Arnold KA, Tansley SL, Betteridge ZE, McHugh NJ, Varsani H, Holton JL, Jacques TS, Pilkington CA, Nistala K, Wedderburn LR; UK Juvenile Dermatomyositis Research Group. Deakin CT, et al. Arthritis Rheumatol. 2016 Nov;68(11):2806-2816. doi: 10.1002/art.39753. Epub 2016 Oct 9. Arthritis Rheumatol. 2016. PMID: 27214289 Free PMC article.
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. 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.
CAPTURE-JIA: a consensus-derived core dataset to improve clinical care for children and young people with juvenile idiopathic arthritis.
McErlane F, Armitt G, Cobb J, Bailey K, Cleary G, Douglas S, Lunt L, Rashid A, Sampath S, Shoop-Worrall S, Smith N, Foster H, Thomson W. McErlane F, et al. Among authors: bailey k. Rheumatology (Oxford). 2020 Jan 1;59(1):137-145. doi: 10.1093/rheumatology/kez214. Rheumatology (Oxford). 2020. PMID: 31243450 Free PMC article.
Development of a national audit tool for juvenile idiopathic arthritis: a BSPAR project funded by the Health Care Quality Improvement Partnership.
McErlane F, Foster HE, Armitt G, Bailey K, Cobb J, Davidson JE, Douglas S, Fell A, Friswell M, Pilkington C, Strike H, Smith N, Thomson W, Cleary G. McErlane F, et al. Among authors: bailey k. Rheumatology (Oxford). 2018 Jan 1;57(1):140-151. doi: 10.1093/rheumatology/kex322. Rheumatology (Oxford). 2018. PMID: 29069424 Free PMC article.
Clinical and laboratory phenotypes in juvenile-onset Systemic Lupus Erythematosus across ethnicities in the UK.
Massias JS, Smith EM, Al-Abadi E, Armon K, Bailey K, Ciurtin C, Davidson J, Gardner-Medwin J, Haslam K, Hawley DP, Leahy A, Leone V, McErlane F, Mewar D, Modgil G, Moots R, Pilkington C, Ramanan AV, Rangaraj S, Riley P, Sridhar A, Wilkinson N, Beresford MW, Hedrich CM. Massias JS, et al. Among authors: bailey k. Lupus. 2021 Apr;30(4):597-607. doi: 10.1177/0961203320984251. Epub 2021 Jan 7. Lupus. 2021. PMID: 33413005 Free PMC article.
2,012 results