Wilson BT - Search Results

1

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.

Wilson BT, Stark Z, Sutton RE, Danda S, Ekbote AV, Elsayed SM, Gibson L, Goodship JA, Jackson AP, Keng WT, King MD, McCann E, Motojima T, Murray JE, Omata T, Pilz D, Pope K, Sugita K, White SM, Wilson IJ. Wilson BT, et al. Among authors: wilson ij. Genet Med. 2016 May;18(5):483-93. doi: 10.1038/gim.2015.110. Epub 2015 Jul 23. Genet Med. 2016. PMID: 26204423 Free PMC article.

2

Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.

Wilson BT, Lochan A, Stark Z, Sutton RE. Wilson BT, et al. Am J Med Genet A. 2016 Mar;170(3):773-6. doi: 10.1002/ajmg.a.37501. Epub 2016 Jan 8. Am J Med Genet A. 2016. PMID: 26749132

3

Metronidazole Toxicity in Cockayne Syndrome: A Case Series.

Wilson BT, Strong A, O'Kelly S, Munkley J, Stark Z. Wilson BT, et al. Pediatrics. 2015 Sep;136(3):e706-8. doi: 10.1542/peds.2015-0531. Pediatrics. 2015. PMID: 26304821

4

ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients.

Apelt K, White SM, Kim HS, Yeo JE, Kragten A, Wondergem AP, Rooimans MA, González-Prieto R, Wiegant WW, Lunke S, Flanagan D, Pantaleo S, Quinlan C, Hardikar W, van Attikum H, Vertegaal ACO, Wilson BT, Wolthuis RMF, Schärer OD, Luijsterburg MS. Apelt K, et al. Among authors: wilson bt. J Exp Med. 2021 Mar 1;218(3):e20200622. doi: 10.1084/jem.20200622. J Exp Med. 2021. PMID: 33315086 Free PMC article.

5

Assessing the function of homologous recombination DNA repair in malignant pleural effusion (MPE) samples.

Patterson MJ, Sutton RE, Forrest I, Sharrock R, Lane M, Kaufmann A, O'Donnell R, Edmondson RJ, Wilson BT, Curtin NJ. Patterson MJ, et al. Among authors: wilson bt. Br J Cancer. 2014 Jul 8;111(1):94-100. doi: 10.1038/bjc.2014.261. Epub 2014 May 27. Br J Cancer. 2014. PMID: 24867690 Free PMC article.

6

Functional characterisation of a novel ovarian cancer cell line, NUOC-1.

McCormick A, Earp E, Elliot K, Cuthbert G, O'Donnell R, Wilson BT, Sutton R, Leeson C, Thomas HD, Blair H, Fordham S, Lunec J, Allan J, Edmondson RJ. McCormick A, et al. Among authors: wilson bt. Oncotarget. 2017 Apr 18;8(16):26832-26844. doi: 10.18632/oncotarget.15821. Oncotarget. 2017. PMID: 28460465 Free PMC article.

7

Microdeletion 1p35.2: a recognizable facial phenotype with developmental delay.

Wilson BT, Omer M, Hellens SW, Zwolinski SA, Yates LM, Lynch SA. Wilson BT, et al. Am J Med Genet A. 2015 Aug;167A(8):1916-20. doi: 10.1002/ajmg.a.37114. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900906

8

Juvenile idiopathic arthritis, mitral valve prolapse and a familial variant involving the integrin-binding fragment of FBN1.

Wilson BT, Jensen SA, McAnulty CP, Brennan P, Handford PA. Wilson BT, et al. Am J Med Genet A. 2013 Aug;161A(8):2047-51. doi: 10.1002/ajmg.a.36011. Epub 2013 Jun 21. Am J Med Genet A. 2013. PMID: 23794388

9

Joining the hidden revolution in rare diseases: working with family support groups.

Wilson BT, Hughes J. Wilson BT, et al. Arch Dis Child. 2020 Feb;105(2):107-108. doi: 10.1136/archdischild-2019-317227. Epub 2019 Jun 13. Arch Dis Child. 2020. PMID: 31196911 No abstract available.

10

Interstitial microduplication 12q13.2-q13.3 in a patient with dysmorphism, developmental delay, atypical seizures and hypospadias: not a phenocopy of Wolf-Hirschhorn syndrome.

Wilson BT, Hellens SW, Breese GJ, Zwolinski SA, Wright MJ. Wilson BT, et al. Clin Dysmorphol. 2012 Oct;21(4):196-199. doi: 10.1097/MCD.0b013e328356d409. Clin Dysmorphol. 2012. PMID: 22772582 No abstract available.

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