Publications by authors named "Bart E Wagner"

20Publications

Osteogenesis imperfecta type I: The role of deep phenotyping in a patient with a ruptured uterus.

Eur J Med Genet 2020 Dec 6;63(12):104095. Epub 2020 Nov 6.

Sheffield Children's NHS Foundation Trust, Sheffield, UK; University of Sheffield, Sheffield, UK. Electronic address:

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December 2020

Microsporidial keratopathy in two dogs.

Vet Ophthalmol 2020 Mar 22;23(2):402-408. Epub 2019 Nov 22.

Electron Microscopy Suite, Department of Histopathology, Royal Hallamshire Hospital, Sheffield, UK.

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March 2020

Geroderma osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosis.

Ultrastruct Pathol 2018 Mar-Apr;42(2):91-96. Epub 2018 Feb 9.

a Yorkshire Regional Genetics Service , Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust , Leeds , UK.

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August 2018

recurrent missense mutation causing Cole-Carpenter syndrome.

J Med Genet 2018 03 20;55(3):158-165. Epub 2017 Dec 20.

Cell Biology Laboratories, School of Biochemistry, University of Bristol, Bristol, UK.

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March 2018

Bilateral Ocular Myositis Associated with Whipple's Disease.

Ocul Oncol Pathol 2017 Jan 7;3(1):17-21. Epub 2016 Sep 7.

Department of Infection and Tropical Medicine, Royal Hallamshire Hospital, Sheffield, UK; Department of Infection, Immunity and Cardiovascular Disease, The Medical School, University of Sheffield, Sheffield, UK.

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January 2017

Cerebellar ataxia and sensory ganglionopathy associated with light-chain myeloma.

Cerebellum Ataxias 2017 5;4. Epub 2017 Jan 5.

Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK ; University of Sheffield, Royal Hallamshire Hospital, Royal Hallamshire Hospital, Glossop Rd, Sheffield, South Yorkshire S10 2JF UK.

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January 2017

Ultrastructural and histological findings on examination of skin in osteogenesis imperfecta: a novel study.

Clin Dysmorphol 2015 Apr;24(2):45-54

aSheffield Clinical Genetics Service bDepartment of Histopathology cSheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust dElectron Microscopy Unit, Department of Histopathology, Royal Hallamshire Hospital eNational EDS Service fAcademic Unit of Child Health, University of Sheffield, Sheffield, UK.

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April 2015

Mutations in TJP2 cause progressive cholestatic liver disease.

Nat Genet 2014 Apr 9;46(4):326-8. Epub 2014 Mar 9.

1] Institute of Liver Studies, Division of Transplantation Immunology and Mucosal Biology, King's College London School of Medicine, London, UK. [2] Paediatric Liver, GI and Nutrition Centre, King's College Hospital, London, UK.

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April 2014

Genotype-phenotype study in type V osteogenesis imperfecta.

Clin Dysmorphol 2013 Jul;22(3):93-101

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

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July 2013

Type 1 collagenopathy presenting with a Russell-Silver phenotype.

Am J Med Genet A 2011 Jun 12;155A(6):1414-8. Epub 2011 May 12.

Sheffield Clinical Genetics Services, Sheffield Children's NHS Foundation Trust, UK.

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June 2011

Homophilic and heterophilic polycystin 1 interactions regulate E-cadherin recruitment and junction assembly in MDCK cells.

J Cell Sci 2009 May 7;122(Pt 9):1410-7. Epub 2009 Apr 7.

Kidney Genetics Group, Academic Nephrology Unit, Sheffield Kidney Institute, University of Sheffield Medical School, Sheffield S10 2RX, UK.

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May 2009

De Barsy syndrome: a review of the phenotype.

Clin Dysmorphol 2008 Apr;17(2):99-107

Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Gladstone Road, Exeter, UK.

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April 2008

A case of bilateral microsporidial keratitis from Bangladesh--infection by an insect parasite from the genus Nosema.

J Med Microbiol 2007 Sep;56(Pt 9):1250-1252

Electron Microscopy Unit, Department of Histopathology, Northern General Hospital, Herries Road, Sheffield S5 7AU, UK.

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September 2007

Combined anticoagulant and antiselectin treatments prevent lethal intravascular coagulation.

Blood 2003 Feb 19;101(3):921-8. Epub 2002 Sep 19.

Cardiovascular Research Group, Division of Clinical Sciences (North), University of Sheffield, Sheffield, United Kingdom.

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February 2003

A comprehensive study of the association between hepatitis C virus and glomerulopathy.

Nephrol Dial Transplant 2002 Feb;17(2):239-45

Sheffield Kidney Institute, Northern General Hospital, Herries Road, Sheffield S5 7AU, UK.

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February 2002