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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

150 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Scientific Business Abstracts of the 113th Annual Meeting of the Association of Physicians of Great Britain and Ireland.
Cacciottolo TM, Perikari A, van der Klaauw A, Henning E, Stadler LKJ, Keogh J, Farooqi IS, Tenin G, Keavney B, Ryan E, Budd R, Bewley M, Coelho P, Rumsey W, Sanchez Y, McCafferty J, Dockrell D, Walmsley S, Whyte M, Liu Y, Choy MK, Tenin G, Abraham S, Black G, Keavney B, Ford T, Stanley B, Good R, Rocchiccioli P, McEntegart M, Watkins S, Eteiba H, Shaukat A, Lindsay M, Robertson K, Hood S, McGeoch R, McDade R, Sidik N, McCartney P, Corcoran D, Collison D, Rush C, McConnachie A, Touyz R, Oldroyd K, Berry C, Gazdagh G, Diver L, Marshall J, McGowan R, Ahmed F; DDD Study; Tobias E, Curtis E, Parsons C, Maslin K, D'Angelo S, Moon R, Crozier S, Gossiel F, Bishop N, Kennedy S, Papageorghiou A, Fraser R, Gandhi S, Prentice A, Inskip H, Godfrey K, Schoenmakers I, Javaid MK, Eastell R, Cooper C, Harvey N, Watt ER, Howden A, Mirchandani A, Coelho P, Hukelmann JL, Sadiku P, Plant TM, Cantrell DA, Whyte MKB, Walmsley SR, Mordi I, Forteath C, Wong A, Mohan M, Palmer C, Doney A, Rena G, Lang C, Gray EH, Azarian S, Riva A, Edwards H, McPhail MJW, Williams R, Chokshi S, Patel VC, Edwards LA, Page D, Miossec M, Williams S, Monaghan R, Fotiou E; CHANGE Study Collaborators, CheartED Study Collaborator… See abstract for full author list ➔ Cacciottolo TM, et al. QJM. 2019 Sep 1;112(9):724-729. doi: 10.1093/qjmed/hcz175. QJM. 2019. PMID: 31505685 No abstract available.
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Page DJ, Miossec MJ, Williams SG, Monaghan RM, Fotiou E, Cordell HJ, Sutcliffe L, Topf A, Bourgey M, Bourque G, Eveleigh R, Dunwoodie SL, Winlaw DS, Bhattacharya S, Breckpot J, Devriendt K, Gewillig M, Brook JD, Setchfield KJ, Bu'Lock FA, O'Sullivan J, Stuart G, Bezzina CR, Mulder BJM, Postma AV, Bentham JR, Baron M, Bhaskar SS, Black GC, Newman WG, Hentges KE, Lathrop GM, Santibanez-Koref M, Keavney BD. Page DJ, et al. Circ Res. 2019 Feb 15;124(4):553-563. doi: 10.1161/CIRCRESAHA.118.313250. Circ Res. 2019. PMID: 30582441 Free PMC article.
MLH1 Differential allelic expression in mutation carriers and controls.
Santibanez Koref M, Wilson V, Cartwright N, Cunnington MS, Mathers JC, Bishop DT, Curtis A, Dunlop MG, Burn J. Santibanez Koref M, et al. Ann Hum Genet. 2010 Nov;74(6):479-88. doi: 10.1111/j.1469-1809.2010.00603.x. Epub 2010 Sep 23. Ann Hum Genet. 2010. PMID: 20860725
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.
Dickinson RE, Griffin H, Bigley V, Reynard LN, Hussain R, Haniffa M, Lakey JH, Rahman T, Wang XN, McGovern N, Pagan S, Cookson S, McDonald D, Chua I, Wallis J, Cant A, Wright M, Keavney B, Chinnery PF, Loughlin J, Hambleton S, Santibanez-Koref M, Collin M. Dickinson RE, et al. Blood. 2011 Sep 8;118(10):2656-8. doi: 10.1182/blood-2011-06-360313. Epub 2011 Jul 15. Blood. 2011. PMID: 21765025 Free PMC article.
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.
Soemedi R, Topf A, Wilson IJ, Darlay R, Rahman T, Glen E, Hall D, Huang N, Bentham J, Bhattacharya S, Cosgrove C, Brook JD, Granados-Riveron J, Setchfield K, Bu'lock F, Thornborough C, Devriendt K, Breckpot J, Hofbeck M, Lathrop M, Rauch A, Blue GM, Winlaw DS, Hurles M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD. Soemedi R, et al. Hum Mol Genet. 2012 Apr 1;21(7):1513-20. doi: 10.1093/hmg/ddr589. Epub 2011 Dec 22. Hum Mol Genet. 2012. PMID: 22199024 Free PMC article.
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.
Mercier S, Küry S, Shaboodien G, Houniet DT, Khumalo NP, Bou-Hanna C, Bodak N, Cormier-Daire V, David A, Faivre L, Figarella-Branger D, Gherardi RK, Glen E, Hamel A, Laboisse C, Le Caignec C, Lindenbaum P, Magot A, Munnich A, Mussini JM, Pillay K, Rahman T, Redon R, Salort-Campana E, Santibanez-Koref M, Thauvin C, Barbarot S, Keavney B, Bézieau S, Mayosi BM. Mercier S, et al. Am J Hum Genet. 2013 Dec 5;93(6):1100-7. doi: 10.1016/j.ajhg.2013.10.013. Epub 2013 Nov 21. Am J Hum Genet. 2013. PMID: 24268661 Free PMC article.
150 results