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Browsing publications by Dr Lisa Turnbull.

Newcastle AuthorsTitleYearFull text
Dr Lindi Chen
Angharad Humphreys
Dr Lisa Turnbull
Dr Nicholas Bown
Professor Deborah Tweddle
et al.
Identification of different ALK mutations in a pair of neuroblastoma cell lines established at diagnosis and relapse2016
Dr Gerald Pfeffer
Dr Angela Pyle
Dr Helen Griffin
Valerie Wilson
Dr Lisa Turnbull
et al.
SPG7 mutations are a common cause of undiagnosed ataxia2015
Dr Edwin Wong
Dr Holly Anderson
Rachel Challis
Dr Lisa Turnbull
Gladys -
et al.
Characterization of a Factor H Mutation That Perturbs the Alternative Pathway of Complement in a Family with Membranoproliferative GN2014
Dr Lisa Turnbull
Dr David Bourn
Dr Christopher Bacon
Dr Michael Wright
Dr Mario Abinun
et al.
Phenotypic Variations of Cartilage Hair Hypoplasia: Granulomatous Skin Inflammation and Severe T Cell Immunodeficiency as Initial Clinical Presentation in Otherwise Well Child with Short Stature2014
Dr Lisa Turnbull
Professor Tim Goodship
Dr Veronique Fremaux-Bacchi
A prevalent CFHR1/FH reverse hybrid gene in aHUS patients induces deregulation of the alternative pathway2013
Rachel Challis
Dr Holly Anderson
Dr Edwin Wong
Dr Lisa Turnbull
Professor Kevin Marchbank
et al.
Atypical haemolytic uraemic syndrome associated with a novel hybrid CFH/CFHR3 gene2013
Dr Lucy Holmes
Dr Lisa Turnbull
Dr Iain Moore
Professor Kevin Marchbank
Professor David Kavanagh
et al.
Determining the Population Frequency of the CFHR3/CFHR1 Deletion at 1q322013
Professor David Kavanagh
Dr Lisa Turnbull
Professor Kevin Marchbank
Professor Claire Harris
Professor Tim Goodship
et al.
A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome2012
Dr Luca Ermini
Professor Tim Goodship
Dr Lisa Turnbull
Professor Heather Cordell
Dr Veronique Fremaux-Bacchi
et al.
Common genetic variants in complement genes other than CFH, CD46 and the CFHRs are not associated with aHUS.2012
Dr Lisa Turnbull
Professor Tim Goodship
Dense deposits disease (DDD): Favorable long-term outcome on enalapril despite persistence of complement activation2012
Professor Tim Goodship
Dr Isabel Pappworth
Dr Iain Moore
Dr Eva-Maria Hunze
James Staniforth
et al.
Factor H autoantibodies in membranoproliferative glomerulonephritis2012
Professor David Kavanagh
Dr Isabel Pappworth
Christine Hayes
Dr Iain Moore
Dr Eva-Maria Hunze
et al.
Factor I Autoantibodies in Patients with Atypical Hemolytic Uremic Syndrome: Disease-Associated or an Epiphenomenon?2012
Dr Lisa Turnbull
Dr David Bourn
Dr Michael Wright
Dr Christopher Bacon
Dr Mario Abinun
et al.
Granulomatous inflammation at presentation of severe T cell immunodeficiency due to RMRP mutation (cartilage-hair hypoplasis)2012
Dr Karim Bennaceur
Dr Eva-Maria Hunze
James Staniforth
Dr Lisa Turnbull
Dr Valerie Wilson
et al.
MCP (CD46) autoantibodies are associated with atypical hemolytic uremic syndrome2012
Dr Valerie Wilson
Dr Iain Moore
Dr Lisa Turnbull
Professor Kevin Marchbank
Professor Neil Sheerin
et al.
Postpartum aHUS Secondary to a Genetic Abnormality in Factor H Acquired Through Liver Transplantation2012
Dr Lisa Turnbull
Professor Tim Goodship
The European MPGN Registry: Novel genetic- and autoimmune-factors allow a differentiation between MPGN subtype I and subtype II2012
Dr Luca Ermini
Professor Tim Goodship
Dr Lisa Turnbull
Professor Heather Cordell
Dr Veronique Fremaux-Bacchi
et al.
Genetic variants in CFH and CD46 are the major susceptibility factors for aHUS-An association study of multiple complement genes2011
Dr Colin Wilson
Dr Nicholas Torpey
Bryon Jaques
Dr Lisa Turnbull
David Talbot
et al.
Successful Simultaneous Liver-Kidney Transplant in an Adult With Atypical Hemolytic Uremic Syndrome Associated With a Mutation in Complement Factor H2011
Professor David Kavanagh
Dr Lisa Turnbull
Professor Kevin Marchbank
Professor Tim Goodship
A novel hybrid complement gene associated with familial haemolytic uraemic syndrome2010
Dr Iain Moore
Dr Lisa Turnbull
Dr Isabel Pappworth
Professor David Kavanagh
James Staniforth
et al.
Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome2010
Dr Lisa Turnbull
Professor Tim Goodship
Atypical haemolytic uraemic syndrome in one large kindred predisposed by factor H mutation penetrance data based on mutation testing and family history2010
Dr Isabel Pappworth
Dr Iain Moore
Dr Lisa Turnbull
Professor David Kavanagh
James Staniforth
et al.
Complement Factor H Autoantibodies and Age-Related Macular Degeneration2010
Dr Isabel Pappworth
Professor David Kavanagh
Dr Iain Moore
Dr Lisa Turnbull
Factor H autoantibodies are associated with MPGN2010
Professor David Kavanagh
Dr Isabel Pappworth
Dr John Tapson
Dr Iain Moore
Dr Lisa Turnbull
et al.
Factor I autoantibodies are associated with atypical haemolytic uraemic syndrome2010
Professor David Kavanagh
Dr Lisa Turnbull
Professor Kevin Marchbank
Professor Tim Goodship
Functional characterisation of a novel hybrid complement factor H protein associated with atypical haemolytic uraemic2010
Dr Lisa Turnbull
Professor Tim Goodship
Maintenance of Kidney Function Following Treatment With Eculizumab and Discontinuation of Plasma Exchange After a Third Kidney Transplant for Atypical Hemolytic Uremic Syndrome Associated With a CFH Mutation2010
Dr Isabel Pappworth
Professor Kevin Marchbank
Dr Lisa Turnbull
Professor Tim Goodship
Successful Renal Transplantation in Factor H Autoantibody Associated HUS with CFHR1 and 3 Deficiency and CFH Variant G2850T2010
Professor Kevin Marchbank
Professor David Kavanagh
Dr Lisa Turnbull
Professor Tim Goodship
Triggering of atypical hemolytic uremic syndrome by influenza A (H1N1)2010
Dr Lisa Turnbull
Professor Tim Goodship
Eculizumab allows plasma exchange iscontinuation after a third kidney transplantation in a patient with plasma dependent atypical HUS due to CFH mutation2009
Dr Lisa Turnbull
Professor Tim Goodship
Eculizumab allows plasma exchnage discontinuation after a third kidney transplantation in a patient with plasma dependent atypical hus due to CFH mutation2009
Professor Kevin Marchbank
Dr Lisa Turnbull
Dr Veronique Fremaux-Bacchi
James Staniforth
Professor David Kavanagh
et al.
Genomic disorders associated with aHUS2009
Dr Lisa Turnbull
Professor Tim Goodship
In atypical HUS (aHUS), the EKZ-AMC protocol of plasma therapy (PT) prevents a chronic renal failure, allows successful kidney transplantation and avoid cerebral arteries stenosis2009
Dr Matthew Edey
Dr Lisa Turnbull
Professor Tim Goodship
Is complement factor H a susceptibility factor for IgA nephropathy?2009
Dr Lisa Turnbull
Professor Tim Goodship
Prophylactic plasma exchange in CD46-associated atypical haemolytic uremic syndrome2009
James Staniforth
Professor David Kavanagh
Dr Lisa Turnbull
Professor Tim Goodship
Professor Kevin Marchbank
et al.
Towards a highly specific Factor H ELISA for rapid screening of patient sera2009
Dr Matthew Edey
Professor David Kavanagh
Dr Anne Lampe
Professor Judith Goodship
Dr Lisa Turnbull
et al.
A Novel Non-Synonymous Polymorphism (p.Arg240His) in C4b-Binding Protein Is Associated with Atypical Hemolytic Uremic Syndrome and Leads to Impaired Alternative Pathway Cofactor Activity2008
Dr Iain Moore
Dr Lisa Turnbull
Professor Tim Goodship
Professor Kevin Marchbank
Anti-factor H autoantibodies in aHUS - Is there an association with CFHR1/3 copy number?2008
Dr Matthew Edey
Dr Lisa Turnbull
Professor Tim Goodship
Dr Suren Kanagasundaram
Association of a Factor H Mutation With Hemolytic Uremic Syndrome Following a Diarrheal Illness2008
Dr Lisa Turnbull
Professor Tim Goodship
Effect of plasma exchanges (PEs) in 2 cases of dense deposit disease (DDD)2008
Dr Lisa Turnbull
Professor Tim Goodship
Failure of prophylactic plasma exchanges (PEs) to prevent end-stage renal failure (ESRF) in MCP mutation-related atypical hemolytic uremic syndrome (aHUS)2008
Dr Veronique Fremaux-Bacchi
Dr Lisa Turnbull
Dr Alison Brown
Dr Nadeem Moghal
Professor Tim Goodship
et al.
Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome2008
Dr Lisa Turnbull
Professor Tim Goodship
Plasma therapy in atypical haemolytic uremic syndrome: Lessons from a family with a factor H mutation2008
Dr Lisa Turnbull
Dr Veronique Fremaux-Bacchi
Professor Tim Goodship
The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome2008
Dr Lisa Turnbull
Professor Tim Goodship
The European MPGN registry2008
Dr Lisa Turnbull
A case of acute myeloid leukemia with inv(16)(p13q22) reveals a novel MYH11 breakpoint and a new CBFβ-MYH11 transcript variant2007
Professor David Kavanagh
Dr Matthew Edey
Dr Lisa Turnbull
Professor Judith Goodship
Dr Anne Lampe
et al.
A non-synonymous polymorphism (arg240his) in C4b-binding protein is associated with atypical haemolytic uraemic syndrome and leads to impaired alternative pathway cofactor activity2007
Dr David Bourn
Dr Lisa Turnbull
Audit of microsatellite instability testing procedures in moderate risk bowel cancer families2007
Dr Matthew Edey
Dr Lisa Turnbull
Professor Judith Goodship
Professor Tim Goodship
Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome2007
Dr Matthew Edey
Dr Lisa Turnbull
Professor Judith Goodship
Professor Tim Goodship
Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency and affect recognition functions2007
Dr Julian Venables
Dr Lisa Turnbull
Dr David Bourn
Dr Martha Lucia Diaz Torres
Dr Michael Jackson
et al.
Atypical haemolytic uraemic syndrome associated with a hybrid complement gene2006
Dr Lisa Turnbull
Professor Tim Goodship
Complement factor H-associated atypical hemolytic uremic syndrome in monozygotic twins: Concordant presentation, discordant response to treatment2006
Dr Michael Jackson
Dr Lisa Turnbull
Professor Judith Goodship
Dr Liz Kemp
Professor Tim Goodship
et al.
De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome2006
Dr Lisa Turnbull
Professor Tim Goodship
Favorable long-term outcome after liver-kidney transplant for recurrent hemolytic uremic syndrome associated with a factor H mutation2006
Professor Judith Goodship
Dr Lisa Turnbull
Dr Julian Venables
Daniel Routledge
Professor Kevin Marchbank
et al.
The genomic organisation of the RCA cluster, including CFH, predisposes to gene conversion and nonhomologous recombination as a cause of atypical haemolytic uraemic syndrome2006
Dr Valerie Wilson
Dr Mauro Santibanez Koref
Dr Lisa Turnbull
James Eden
Dr Ann Curtis
et al.
Altered allele expression in hereditary nonpolyosis colon cancer (HNPCC) patients with nonsense mutations in the Mut L homologue (MLH1) gene.2005
Dr Stephen Barton
Dr David Bourn
Professor Judith Goodship
Dr Lisa Turnbull
Dr Ann Curtis
et al.
Mutation screening in Ellis-van Creveld syndrome by direct sequencing: an evaluation of the use of robotics and sequence analysis packages.2005
Professor Tim Goodship
Dr Lisa Turnbull
Posttransplantation cytomegalovirus-induced recurrence of atypical hemolytic uremic syndrome associated with a factor H mutation: Successful treatment with intensive plasma exchanges and ganciclovir2005
Dr Veronique Fremaux-Bacchi
Professor Judith Goodship
Dr Lisa Turnbull
Professor Tim Goodship
The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: Evidence from two independent cohorts2005
Dr Lisa Turnbull
Professor Judith Goodship
Professor Tim Goodship
The development of atypical hemolytic uremic syndrome is not influenced by thrombophilia susceptibility factors [15]2005
Dr Lisa Turnbull
Professor Tim Goodship
Atypical relapse of hemolytic uremic syndrome after transplantation2004
Dr Lisa Turnbull
Professor Tim Goodship
Challenges in the management if infantile factor H associated hemolytic uremic syndrome2004
Dr Lisa Turnbull
Dr Ann Curtis
Incidence of deletion and duplication mutations in HNPCC patients in the NE of England2004
Dr Lisa Turnbull
The normal population distribution of PRNP codon 129 polymorphism2003