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Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of 'gene-negative' individuals recruited to the 100 000 Genomes Project.
Shovlin CL, Almaghlouth FI, Alsafi A, Coote N, Rennie C, Wallace GM, Govani FS, Research Consortium GE. Shovlin CL, et al. Among authors: alsafi a. J Med Genet. 2024 Jan 19;61(2):182-185. doi: 10.1136/jmg-2023-109195. J Med Genet. 2024. PMID: 37586837 Free PMC article. No abstract available.
MEK 1 inhibition and bleeding in hereditary haemorrhagic telangiectasia.
Shovlin CL, Patel D, Bielowka A, Ledermann JA, Modarresi A; Genomics England Research Consortium; Bernabeu-Herrero ME, Aldred MA, Alsafi A. Shovlin CL, et al. Among authors: alsafi a. Br J Haematol. 2024 Jan;204(1):361-365. doi: 10.1111/bjh.19167. Epub 2023 Oct 23. Br J Haematol. 2024. PMID: 37872650 No abstract available.
European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT).
Eker OF, Boccardi E, Sure U, Patel MC, Alicante S, Alsafi A, Coote N, Droege F, Dupuis O, Fialla AD, Jones B, Kariholu U, Kjeldsen AD, Lefroy D, Lenato GM, Mager HJ, Manfredi G, Nielsen TH, Pagella F, Post MC, Rennie C, Sabbà C, Suppressa P, Toerring PM, Ugolini S, Buscarini E, Dupuis-Girod S, Shovlin CL. Eker OF, et al. Among authors: alsafi a. Orphanet J Rare Dis. 2020 Jun 29;15(1):165. doi: 10.1186/s13023-020-01386-9. Orphanet J Rare Dis. 2020. PMID: 32600364 Free PMC article.
The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care.
Shovlin CL, Buscarini E, Sabbà C, Mager HJ, Kjeldsen AD, Pagella F, Sure U, Ugolini S, Torring PM, Suppressa P, Rennie C, Post MC, Patel MC, Nielsen TH, Manfredi G, Lenato GM, Lefroy D, Kariholu U, Jones B, Fialla AD, Eker OF, Dupuis O, Droege F, Coote N, Boccardi E, Alsafi A, Alicante S, Dupuis-Girod S. Shovlin CL, et al. Among authors: alsafi a. Eur J Med Genet. 2022 Jan;65(1):104370. doi: 10.1016/j.ejmg.2021.104370. Epub 2021 Nov 1. Eur J Med Genet. 2022. PMID: 34737116 Free article.
53 results