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Year Number of Results
2007 1
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75 results

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Page 1
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.
Shovlin CL, Simeoni I, Downes K, Frazer ZC, Megy K, Bernabeu-Herrero ME, Shurr A, Brimley J, Patel D, Kell L, Stephens J, Turbin IG, Aldred MA, Penkett CJ, Ouwehand WH, Jovine L, Turro E. Shovlin CL, et al. Blood. 2020 Oct 22;136(17):1907-1918. doi: 10.1182/blood.2019004560. Blood. 2020. PMID: 32573726 Free PMC article.
Hereditary haemorrhagic telangiectasia.
Hermann R, Shovlin CL, Kasthuri RS, Serra M, Eker OF, Bailly S, Buscarini E, Dupuis-Girod S. Hermann R, et al. Among authors: shovlin cl. Nat Rev Dis Primers. 2025 Jan 9;11(1):1. doi: 10.1038/s41572-024-00585-z. Nat Rev Dis Primers. 2025. PMID: 39788978 Review.
Pulmonary arteriovenous malformations.
Shovlin CL. Shovlin CL. Am J Respir Crit Care Med. 2014 Dec 1;190(11):1217-28. doi: 10.1164/rccm.201407-1254CI. Am J Respir Crit Care Med. 2014. PMID: 25420112 Free PMC article. Review.
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
Cipriani V, Vestito L, Magavern EF, Jacobsen JO, Arno G, Behr ER, Benson KA, Bertoli M, Bockenhauer D, Bowl MR, Burley K, Chan LF, Chinnery P, Conlon P, Costa M, Davidson AE, Dawson SJ, Elhassan E, Flanagan SE, Futema M, Gale DP, García-Ruiz S, Corcia CG, Griffin HR, Hambleton S, Hicks AR, Houlden H, Houlston RS, Howles SA, Kleta R, Lekkerkerker I, Lin S, Liskova P, Mitchison H, Morsy H, Mumford AD, Newman WG, Neatu R, O'Toole EA, Ong AC, Pagnamenta AT, Rahman S, Rajan N, Robinson PN, Ryten M, Sadeghi-Alavijeh O, Sayer JA, Shovlin CL, Taylor JC, Teltsh O, Tomlinson I, Tucci A, Turnbull C, van Eerde AM, Ware JS, Watts LM, Webster AR, Westbury SK, Zheng SL, Caulfield M, Smedley D. Cipriani V, et al. Among authors: shovlin cl. medRxiv [Preprint]. 2023 Dec 21:2023.12.20.23300294. doi: 10.1101/2023.12.20.23300294. medRxiv. 2023. Update in: Nature. 2025 Feb 26. doi: 10.1038/s41586-025-08623-w. PMID: 38196618 Free PMC article. Updated. Preprint.
Rare disease gene association discovery in the 100,000 Genomes Project.
Cipriani V, Vestito L, Magavern EF, Jacobsen JOB, Arno G, Behr ER, Benson KA, Bertoli M, Bockenhauer D, Bowl MR, Burley K, Chan LF, Chinnery P, Conlon PJ, Costa MA, Davidson AE, Dawson SJ, Elhassan EAE, Flanagan SE, Futema M, Gale DP, García-Ruiz S, Corcia CG, Griffin HR, Hambleton S, Hicks AR, Houlden H, Houlston RS, Howles SA, Kleta R, Lekkerkerker I, Lin S, Liskova P, Mitchison HH, Morsy H, Mumford AD, Newman WG, Neatu R, O'Toole EA, Ong ACM, Pagnamenta AT, Rahman S, Rajan N, Robinson PN, Ryten M, Sadeghi-Alavijeh O, Sayer JA, Shovlin CL, Taylor JC, Teltsh O, Tomlinson I, Tucci A, Turnbull C, van Eerde AM, Ware JS, Watts LM, Webster AR, Westbury SK, Zheng SL, Caulfield M, Smedley D. Cipriani V, et al. Among authors: shovlin cl. Nature. 2025 Feb 26. doi: 10.1038/s41586-025-08623-w. Online ahead of print. Nature. 2025. PMID: 40011789
Pulmonary arteriovenous malformations emerge from the shadows.
Shovlin CL, Condliffe R, Donaldson JW, Kiely DG, Wort SJ. Shovlin CL, et al. Thorax. 2017 Dec;72(12):1071-1073. doi: 10.1136/thoraxjnl-2017-211072. Thorax. 2017. PMID: 29141889 Free article. No abstract available.
Pomalidomide in Hereditary Hemorrhagic Telangiectasia.
Modarresi A, Rennie C, Shovlin CL. Modarresi A, et al. Among authors: shovlin cl. N Engl J Med. 2024 Dec 12;391(23):2277-2278. doi: 10.1056/NEJMc2413110. N Engl J Med. 2024. PMID: 39665667 No abstract available.
Ischemic Stroke and Pulmonary Arteriovenous Malformations: A Review.
Topiwala KK, Patel SD, Saver JL, Streib CD, Shovlin CL. Topiwala KK, et al. Among authors: shovlin cl. Neurology. 2022 Feb 1;98(5):188-198. doi: 10.1212/WNL.0000000000013169. Epub 2021 Dec 8. Neurology. 2022. PMID: 34880092 Free PMC article. Review.
75 results