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306 results

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Page 1
Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland.
Leighton DJ, Ansari M, Newton J, Parry D, Cleary E, Colville S, Stephenson L, Larraz J, Johnson M, Beswick E, Wong M, Gregory J, Carod Artal J, Davenport R, Duncan C, Morrison I, Smith C, Swingler R, Deary IJ, Porteous M, Aitman TJ, Chandran S, Gorrie GH, Pal S; Lothian Birth Cohorts Group; and the CARE-MND Consortium. Leighton DJ, et al. Among authors: porteous m. J Neurol. 2023 Mar;270(3):1702-1712. doi: 10.1007/s00415-022-11505-0. Epub 2022 Dec 14. J Neurol. 2023. PMID: 36515702 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. Among authors: porteous m. 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.
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access.
Ellard S, Morgan S, Wynn SL, Walker S, Parrish A, Mein R, Juett A, Ahn JW, Berry I, Cassidy EJ, Durkie M, Fish L, Hall R, Howard E, Rankin J, Wright CF, Deans ZC, Scott RH, Hill SL, Baple EL, Taylor RW; Association for Clinical Genomic Science Rare Disease Position Statement Working Group. Ellard S, et al. J Med Genet. 2024 Nov 25;61(12):1103-1112. doi: 10.1136/jmg-2024-110228. J Med Genet. 2024. PMID: 39327040 Free article.
Investigating the effectiveness of commercially available mouthwash on SARS-CoV-2 in vivo using viable virus titre as the primary outcome. A randomised controlled trial.
Seymour DW, Forshaw G, Porteous M, Mawer D, Wiggins F, Mitchell A, Hewitt C, Beetar-King T, Davies KA, Jackson D, Hannah MJ, Pitcher M, Arnold U, Strachan R, Killip MJ, Nixon PJ. Seymour DW, et al. Among authors: porteous m. Access Microbiol. 2024 Jul 8;6(7):000722.v3. doi: 10.1099/acmi.0.000722.v3. eCollection 2024. Access Microbiol. 2024. PMID: 39130730 Free PMC article.
Long-term air pollution exposure and the risk of primary graft dysfunction after lung transplantation.
Koyama T, Zhao Z, Balmes JR, Calfee CS, Matthay MA, Reilly JP, Porteous MK, Diamond JM, Christie JD, Cantu E, Ware LB; Lung Transplant Outcomes Group. Koyama T, et al. Among authors: porteous mk. J Heart Lung Transplant. 2025 Jan;44(1):64-74. doi: 10.1016/j.healun.2024.07.003. Epub 2024 Jul 15. J Heart Lung Transplant. 2025. PMID: 39019353 Free article.
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
Pottinger TD, Motelow JE, Povysil G, Moreno CAM, Ren Z, Phatnani H; New York Genome Center ALS Sequencing Consortium; Aitman TJ, Santoyo-Lopez J; Scottish Genomes Partnership; Mitsumoto H; ALS COSMOS Study Group; PLS COSMOS Study Group; GTAC Investigators; Goldstein DB, Harms MB. Pottinger TD, et al. BMC Genomics. 2024 Jun 29;25(1):651. doi: 10.1186/s12864-024-10538-1. BMC Genomics. 2024. PMID: 38951798 Free PMC article.
Genotypes and phenotypes of motor neuron disease: an update of the genetic landscape in Scotland.
Leighton DJ, Ansari M, Newton J, Cleary E, Stephenson L, Beswick E, Carod Artal J, Davenport R, Duncan C, Gorrie GH, Morrison I, Swingler R, Deary IJ, Porteous M, Chandran S, Pal S; Lothian Birth Cohorts Group, the CARE-MND Consortium. Leighton DJ, et al. Among authors: porteous m. J Neurol. 2024 Aug;271(8):5256-5266. doi: 10.1007/s00415-024-12450-w. Epub 2024 Jun 9. J Neurol. 2024. PMID: 38852112 Free PMC article.
Improved Structure and Function in Early-Detected Second-Eye Neovascular Age-Related Macular Degeneration: FASBAT/Early Detection of Neovascular Age-Related Macular Degeneration Report 1.
Gale RP, Airody A, Sivaprasad S, Hanson RLW, Allgar V, McKibbin M, Morland AB, Peto T, Porteous M, Chakravarthy U; FASBAT Study Group. Gale RP, et al. Among authors: porteous m. Ophthalmol Retina. 2024 Jun;8(6):545-552. doi: 10.1016/j.oret.2023.12.012. Epub 2024 Jan 1. Ophthalmol Retina. 2024. PMID: 38171416 Free article.
Randomised trial of genetic testing and targeted intervention to prevent the development and progression of Paget's disease of bone.
Phillips J, Subedi D, Lewis SC, Keerie C, Cronin O, Porteous M, Moore D, Cetnarskyj R, Ranganath L, Selby PL, Turgut T, Hampson G, Chandra R, Ho S, Tobias J, Young-Min S, McKenna MJ, Crowley RK, Fraser WD, Tang JCY, Gennari L, Nuti R, Brandi ML, Del Pino-Montes J, Devogelaer JP, Durnez A, Isaia GC, Di Stefano M, Guanabens N, Blanch Rubio J, Seibel MJ, Walsh JP, Rea SL, Kotowicz MA, Nicholson GC, Duncan EL, Major G, Horne A, Gilchrist N, Ralston SH. Phillips J, et al. Among authors: porteous m. Ann Rheum Dis. 2024 Mar 12;83(4):529-536. doi: 10.1136/ard-2023-224990. Ann Rheum Dis. 2024. PMID: 38123339 Free PMC article. Clinical Trial.
306 results