Shovlin CL - Search Results

1

Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA.

Xiao S, Kai Z, Murphy D, Li D, Patel D, Bielowka AM, Bernabeu-Herrero ME, Abdulmogith A, Mumford AD, Westbury SK, Aldred MA, Vargesson N, Caulfield MJ; Genomics England Research Consortium; Shovlin CL. Xiao S, et al. Among authors: shovlin cl. Am J Hum Genet. 2023 Nov 2;110(11):1903-1918. doi: 10.1016/j.ajhg.2023.09.005. Epub 2023 Oct 9. Am J Hum Genet. 2023. PMID: 37816352 Free PMC article.

2

Hereditary hemorrhagic telangiectasia.

Shovlin CL, Hughes JM. Shovlin CL, et al. N Engl J Med. 1996 Feb 1;334(5):330-1; author reply 331-2. N Engl J Med. 1996. PMID: 8532038 No abstract available.

3

Adenosine deaminase deficiency with altered biochemical parameters in two sisters with late-onset immunodeficiency.

Fairbanks LD, Shovlin CL, Webster AD, Hughes JM, Simmonds HA. Fairbanks LD, et al. Among authors: shovlin cl. J Inherit Metab Dis. 1994;17(1):135-7. doi: 10.1007/BF00735418. J Inherit Metab Dis. 1994. PMID: 7914248 No abstract available.

4

Adult presentation of adenosine deaminase deficiency.

Shovlin CL, Hughes JM, Simmonds HA, Fairbanks L, Deacock S, Lechler R, Roberts I, Webster AD. Shovlin CL, et al. Lancet. 1993 Jun 5;341(8858):1471. doi: 10.1016/0140-6736(93)90910-9. Lancet. 1993. PMID: 8099155 No abstract available.

5

Molecular defects in rare bleeding disorders: hereditary haemorrhagic telangiectasia.

Shovlin CL. Shovlin CL. Thromb Haemost. 1997 Jul;78(1):145-50. Thromb Haemost. 1997. PMID: 9198145 Review.

6

Alveolar macrophage activity and the pulmonary complications of haematopoietic stem cell transplantation.

Whittle AT, Davis M, Shovlin CL, Ganly PS, Haslett C, Greening AP. Whittle AT, et al. Among authors: shovlin cl. Thorax. 2001 Dec;56(12):941-6. doi: 10.1136/thorax.56.12.941. Thorax. 2001. PMID: 11713357 Free PMC article.

7

Inherited diseases of the vasculature.

Shovlin CL, Scott J. Shovlin CL, et al. Annu Rev Physiol. 1996;58:483-507. doi: 10.1146/annurev.ph.58.030196.002411. Annu Rev Physiol. 1996. PMID: 8815804 Review.

8

Prevention of serious infections in hereditary hemorrhagic telangiectasia: roles for prophylactic antibiotics, the pulmonary capillaries-but not vaccination.

Shovlin C, Bamford K, Sabbà C, Mager HJ, Kjeldsen A, Droege F, Buscarini E, Dupuis-Girod S; VASCERN HHT. Shovlin C, et al. Haematologica. 2019 Feb;104(2):e85-e86. doi: 10.3324/haematol.2018.209791. Haematologica. 2019. PMID: 30705116 Free PMC article. No abstract available.

9

Adenosine deaminase (ADA) deficiency as the unexpected cause of CD4+ T-lymphocytopenia in two HIV-negative adult female siblings.

Fairbanks LD, Simmonds HA, Webster AD, Shovlin CL, Hughes JM. Fairbanks LD, et al. Among authors: shovlin cl. Adv Exp Med Biol. 1994;370:471-4. doi: 10.1007/978-1-4615-2584-4_100. Adv Exp Med Biol. 1994. PMID: 7660952 No abstract available.

10

A gene for primary pulmonary hypertension.

Wilkins MR, Gibbs JS, Shovlin CL. Wilkins MR, et al. Among authors: shovlin cl. Lancet. 2000 Oct 7;356(9237):1207-8. doi: 10.1016/s0140-6736(00)02777-x. Lancet. 2000. PMID: 11072932 No abstract available.

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