Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

301 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
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.
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 Jan 1:S2468-6530(23)00674-7. doi: 10.1016/j.oret.2023.12.012. Online ahead of print. 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.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Integrative multi-omics analysis reveals novel idiopathic pulmonary fibrosis endotypes associated with disease progression.
Ruan P, Todd JL, Zhao H, Liu Y, Vinisko R, Soellner JF, Schmid R, Kaner RJ, Luckhardt TR, Neely ML, Noth I, Porteous M, Raj R, Safdar Z, Strek ME, Hesslinger C, Palmer SM, Leonard TB, Salisbury ML. Ruan P, et al. Among authors: porteous m. Respir Res. 2023 May 31;24(1):141. doi: 10.1186/s12931-023-02435-0. Respir Res. 2023. PMID: 37344825 Free PMC article.
Higher dose corticosteroids in patients admitted to hospital with COVID-19 who are hypoxic but not requiring ventilatory support (RECOVERY): a randomised, controlled, open-label, platform trial.
RECOVERY Collaborative Group. Electronic address: recoverytrial@ndph.ox.ac.uk; RECOVERY Collaborative Group. RECOVERY Collaborative Group. Electronic address: recoverytrial@ndph.ox.ac.uk, et al. Lancet. 2023 May 6;401(10387):1499-1507. doi: 10.1016/S0140-6736(23)00510-X. Epub 2023 Apr 13. Lancet. 2023. PMID: 37060915 Free PMC article. Clinical Trial.
Idiopathic Pulmonary Fibrosis Is Associated with Common Genetic Variants and Limited Rare Variants.
Peljto AL, Blumhagen RZ, Walts AD, Cardwell J, Powers J, Corte TJ, Dickinson JL, Glaspole I, Moodley YP, Vasakova MK, Bendstrup E, Davidsen JR, Borie R, Crestani B, Dieude P, Bonella F, Costabel U, Gudmundsson G, Donnelly SC, Egan J, Henry MT, Keane MP, Kennedy MP, McCarthy C, McElroy AN, Olaniyi JA, O'Reilly KMA, Richeldi L, Leone PM, Poletti V, Puppo F, Tomassetti S, Luzzi V, Kokturk N, Mogulkoc N, Fiddler CA, Hirani N, Jenkins RG, Maher TM, Molyneaux PL, Parfrey H, Braybrooke R, Blackwell TS, Jackson PD, Nathan SD, Porteous MK, Brown KK, Christie JD, Collard HR, Eickelberg O, Foster EE, Gibson KF, Glassberg M, Kass DJ, Kropski JA, Lederer D, Linderholm AL, Loyd J, Mathai SK, Montesi SB, Noth I, Oldham JM, Palmisciano AJ, Reichner CA, Rojas M, Roman J, Schluger N, Shea BS, Swigris JJ, Wolters PJ, Zhang Y, Prele CMA, Enghelmayer JI, Otaola M, Ryerson CJ, Salinas M, Sterclova M, Gebremariam TH, Myllärniemi M, Carbone RG, Furusawa H, Hirose M, Inoue Y, Miyazaki Y, Ohta K, Ohta S, Okamoto T, Kim DS, Pardo A, Selman M, Aranda AU, Park MS, Park JS, Song JW, Molina-Molina M, Planas-Cerezales L, Westergren-Thorsson G, Smith AV, Manichaikul AW, Kim JS, Rich SS, Oelsner EC, Barr RG… See abstract for full author list ➔ Peljto AL, et al. Among authors: porteous mk. Am J Respir Crit Care Med. 2023 May 1;207(9):1194-1202. doi: 10.1164/rccm.202207-1331OC. Am J Respir Crit Care Med. 2023. PMID: 36602845 Free PMC article.
301 results