Publications by authors named "Brian T Wilson"

18Publications

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

Arch Dis Child 2020 02 13;105(2):107-108. Epub 2019 Jun 13.

Amy and Friends Cockayne Syndrome Support, Wirral, UK.

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February 2020

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

Oncotarget 2017 Apr;8(16):26832-26844

Division of Molecular and Clinical Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester, St Mary's Hospital, Manchester, UK.

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April 2017

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

Am J Med Genet A 2016 Mar 8;170(3):773-6. Epub 2016 Jan 8.

Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.

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March 2016

Uterine carcinosarcoma/malignant mixed Müllerian tumor incidence is increased in women with breast cancer, but independent of hormone therapy.

J Gynecol Oncol 2015 Oct 23;26(4):249-51. Epub 2015 Sep 23.

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.

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October 2015

Metronidazole Toxicity in Cockayne Syndrome: A Case Series.

Pediatrics 2015 Sep;136(3):e706-8

Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia.

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September 2015

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

Am J Med Genet A 2015 Aug 21;167A(8):1916-20. Epub 2015 Apr 21.

National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Ireland.

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August 2015

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

Am J Med Genet A 2013 Aug 21;161A(8):2047-51. Epub 2013 Jun 21.

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.

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August 2013

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

Clin Dysmorphol 2012 Oct;21(4):196-9

Northern Genetics Service, Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, UK.

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October 2012

A case of mosaic trisomy 19q12-q13.2 with high BMI, macrocephaly, and speech delay: does USF2 determine size in the 19q phenotypes?

Clin Dysmorphol 2012 Jan;21(1):33-6

Northern Genetics Service, Institute of Genetic Medicine, International Centre for Life, Newcastle Upon Tyne, UK.

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January 2012

Astrocytoma in a breast cancer lineage: part of the BRCA2 phenotype?

J Clin Oncol 2010 Oct 16;28(30):e596-8. Epub 2010 Aug 16.

Northern Genetics Service, Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne, United Kingdom.

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October 2010

Agenesis of the corpus callosum in mosaic tetrasomy 8p.

Clin Dysmorphol 2010 Oct;19(4):215-7

Northern Genetics Service, Institute of Human Genetics, International Centre for Life, Newcastle Upon Tyne, UK.

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October 2010