Shovlin CL - Search Results

1

Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline.

Clarke JM, Alikian M, Xiao S, Kasperaviciute D, Thomas E, Turbin I, Olupona K, Cifra E, Curetean E, Ferguson T, Redhead J; Genomics England Research Consortium; Shovlin CL. Clarke JM, et al. Among authors: shovlin cl. J Med Genet. 2020 Dec;57(12):859-862. doi: 10.1136/jmedgenet-2019-106794. Epub 2020 Apr 17. J Med Genet. 2020. PMID: 32303606 Free PMC article. No abstract available.

2

Comment on Kilian et al. Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT. J. Clin. Med. 2023, 12, 2704.

Eker OF, Dupuis-Girod S, Shovlin CL, Boccardi E. Eker OF, et al. Among authors: shovlin cl. J Clin Med. 2023 Nov 20;12(22):7179. doi: 10.3390/jcm12227179. J Clin Med. 2023. PMID: 38002793 Free PMC article.

3

Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.

Bernabéu-Herrero ME, Patel D, Bielowka A, Zhu J, Jain K, Mackay IS, Chaves Guerrero P, Emanuelli G, Jovine L, Noseda M, Marciniak SJ, Aldred MA, Shovlin CL. Bernabéu-Herrero ME, et al. Among authors: shovlin cl. Blood. 2024 May 30;143(22):2314-2331. doi: 10.1182/blood.2023021777. Blood. 2024. PMID: 38457357 Free PMC article.

4

Acute pulmonary embolism: a review.

Saleh JA, Alasia DD. Saleh JA, et al. Niger J Med. 2007 Jan-Mar;16(1):11-7. doi: 10.4314/njm.v16i1.37274. Niger J Med. 2007. PMID: 17563962 Review.

5

A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3.

Shovlin CL, Hughes JM, Tuddenham EG, Temperley I, Perembelon YF, Scott J, Seidman CE, Seidman JG. Shovlin CL, et al. Nat Genet. 1994 Feb;6(2):205-9. doi: 10.1038/ng0294-205. Nat Genet. 1994. PMID: 8162076

6

Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).

Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, Kjeldsen AD, Plauchu H. Shovlin CL, et al. Am J Med Genet. 2000 Mar 6;91(1):66-7. doi: 10.1002/(sici)1096-8628(20000306)91:1<66::aid-ajmg12>3.0.co;2-p. Am J Med Genet. 2000. PMID: 10751092

7

Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century.

Begbie ME, Wallace GM, Shovlin CL. Begbie ME, et al. Among authors: shovlin cl. Postgrad Med J. 2003 Jan;79(927):18-24. doi: 10.1136/pmj.79.927.18. Postgrad Med J. 2003. PMID: 12566546 Free PMC article. Review.

8

A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5.

Cole SG, Begbie ME, Wallace GM, Shovlin CL. Cole SG, et al. Among authors: shovlin cl. J Med Genet. 2005 Jul;42(7):577-82. doi: 10.1136/jmg.2004.028712. J Med Genet. 2005. PMID: 15994879 Free PMC article.

9

Hereditary haemorrhagic telangiectasia: a clinical and scientific review.

Govani FS, Shovlin CL. Govani FS, et al. Among authors: shovlin cl. Eur J Hum Genet. 2009 Jul;17(7):860-71. doi: 10.1038/ejhg.2009.35. Epub 2009 Apr 1. Eur J Hum Genet. 2009. PMID: 19337313 Free PMC article. Review.

10

Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment.

Shovlin CL. Shovlin CL. Blood Rev. 2010 Nov;24(6):203-19. doi: 10.1016/j.blre.2010.07.001. Epub 2010 Sep 25. Blood Rev. 2010. PMID: 20870325 Free article. Review.

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