Publications by authors named "Bart E Wagner"

20Publications

Development and validation of a quantitative electron microscopy score to assess acute cellular stress in the human exocrine pancreas.

Authors:
Nicole Kattner Nicola Dyson Yvonne Bury Dina Tiniakos Kathryn White Tracey Davey Lena Eliasson Lynn Tindale Bart E Wagner Minna Honkanen-Scott Jennifer Doyle Rutger J Ploeg James Am Shaw William E Scott

J Pathol Clin Res 2020 Nov 22. Epub 2020 Nov 22.

Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.

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November 2020

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

Authors:
Melody Grace Redman Bart E Wagner Meena Balasubramanian

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.

Authors:
Emma Scurrell Sue Manning Pedro Malho Alex Civello John Mould Rossella Carrozza Bart E Wagner

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

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.

Authors:
Kyle A Metz Xinchen Teng Isabelle Coppens Heather M Lamb Bart E Wagner Jill A Rosenfeld Xianghui Chen Yu Zhang Hee Jong Kim Michael E Meadow Tim Sen Wang Edda D Haberlandt Glenn W Anderson Esther Leshinsky-Silver Weimin Bi Thomas C Markello Marsha Pratt Nawal Makhseed Adolfo Garnica Noelle R Danylchuk Thomas A Burrow Parul Jayakar Dianalee McKnight Satish Agadi Hatha Gbedawo Christine Stanley Michael Alber Isabelle Prehl Katrina Peariso Min Tsui Ong Santosh R Mordekar Michael J Parker Daniel Crooks Pankaj B Agrawal Gerard T Berry Tobias Loddenkemper Yaping Yang Gustavo H B Maegawa Abdel Aouacheria Janet G Markle James A Wohlschlegel Adam L Hartman J Marie Hardwick

Ann Neurol 2018 11 8;84(5):766-780. Epub 2018 Nov 8.

Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.

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November 2018

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

Authors:
Rosalyn Jewell Paul Brewer Sophie Stenton Ian R Berry Sue Chatfield James A Fernandes Cesar Peres Bart E Wagner Christopher Bennett

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.

Authors:
Meena Balasubramanian Raja Padidela Rebecca C Pollitt Nicholas J Bishop M Zulf Mughal Amaka C Offiah Bart E Wagner Janine McCaughey David J Stephens

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.

Authors:
Vivak Parkash Hardeep Singh Mudhar Bart E Wagner Didier Raoult Ruth Batty Hubert Lepidi John Burke Paul Collini Thushan de Silva

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.

Authors:
Panagiotis Zis Dasappaiah Ganesh Rao Bart E Wagner Lucinda Nicholson-Goult Nigel Hoggard Marios Hadjivassiliou

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.

Authors:
Meena Balasubramanian Bart E Wagner Luiz C Peres Glenda J Sobey Michael J Parker Ann Dalton Paul Arundel Nicholas J Bishop

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.

Authors:
Melissa Sambrotta Sandra Strautnieks Efterpi Papouli Peter Rushton Barnaby E Clark David A Parry Clare V Logan Lucy J Newbury Binita M Kamath Simon Ling Tassos Grammatikopoulos Bart E Wagner John C Magee Ronald J Sokol Giorgina Mieli-Vergani Joshua D Smith Colin A Johnson Patricia McClean Michael A Simpson A S Knisely Laura N Bull Richard J Thompson

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.

Authors:
Meena Balasubramanian Michael J Parker Ann Dalton Cecilia Giunta Uschi Lindert Luiz C Peres Bart E Wagner Paul Arundel Amaka Offiah Nicholas J Bishop

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

Dermatosparaxis (Ehlers-Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at delivery.

Authors:
Joyce Solomons Paul Coucke Sofie Symoens Marta C Cohen F Michael Pope Bart E Wagner Glenda Sobey Rebecca Black Deirdre Cilliers

Am J Med Genet A 2013 May 13;161A(5):1122-5. Epub 2013 Mar 13.

Department of Clinical Genetics, Oxford University Hospitals, Oxford, UK.

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May 2013

Type 1 collagenopathy presenting with a Russell-Silver phenotype.

Authors:
Michael J Parker Charulata Deshpande Julia Rankin Louise C Wilson Meena Balasubramanian Christine M Hall Bart E Wagner Rebecca Pollitt Ann Dalton Nicholas J Bishop

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.

Authors:
Andrew J Streets Bart E Wagner Peter C Harris Christopher J Ward Albert C M Ong

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.

Authors:
Emma C Kivuva Michael J Parker Marta C Cohen Bart E Wagner Glenda Sobey

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.

Authors:
Alan Curry Hardeep Singh Mudhar Sumedh Dewan Elizabeth U Canning Bart E Wagner

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

Aberrant expression of apoptosis proteins and ultrastructural aberrations in uterine leiomyomas from patients with hereditary leiomyomatosis and renal cell carcinoma.

Authors:
Noel C Wortham N Afrina Alam Ella Barclay Patrick J Pollard Bart E Wagner Sanjiv Manek George Elia Ian P M Tomlinson

Fertil Steril 2006 Oct 7;86(4):961-71. Epub 2006 Sep 7.

Molecular and Population Genetics Laboratory, Cancer Research UK, London, United Kingdom.

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October 2006

Effect of combination therapy (ribavirin and interferon) in HCV-related glomerulopathy.

Authors:
Alaa A Sabry Mohamed A Sobh Hussein A Sheaashaa Guara Kudesia Graham Wild Samantha Fox Bart E Wagner William L Irving Anna Grabowska Abdel Meguid El-Nahas

Nephrol Dial Transplant 2002 Nov;17(11):1924-30

Mansoura Urology and Nephrology Center, Mansoura University, Mansoura, Egypt.

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November 2002

Combined anticoagulant and antiselectin treatments prevent lethal intravascular coagulation.

Authors:
Keith E Norman Matthew J Cotter James B Stewart Kate B Abbitt Majid Ali Bart E Wagner William A H Wallace S Bradley Forlow Paul G Hellewell

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.

Authors:
Alaa A Sabry Mohamed A Sobh William L Irving Anna Grabowska Bart E Wagner Samantha Fox Gura Kudesia A Meguid El Nahas

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