Publications by Dr Lisa Turnbull - ePrints

Browsing publications by Dr Lisa Turnbull.

Newcastle Authors	Title	Year
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 relapse	2016
Dr Gerald Pfeffer Dr Angela Pyle Dr Helen Griffin Valerie Wilson Dr Lisa Turnbull et al.	SPG7 mutations are a common cause of undiagnosed ataxia	2015
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 GN	2014
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 Stature	2014
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 pathway	2013
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 gene	2013
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 1q32	2013
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 syndrome	2012
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 activation	2012
Professor Tim Goodship Dr Isabel Pappworth Dr Iain Moore Dr Eva-Maria Hunze James Staniforth et al.	Factor H autoantibodies in membranoproliferative glomerulonephritis	2012
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 syndrome	2012
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 Transplantation	2012
Dr Lisa Turnbull Professor Tim Goodship	The European MPGN Registry: Novel genetic- and autoimmune-factors allow a differentiation between MPGN subtype I and subtype II	2012
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 genes	2011
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 H	2011
Professor David Kavanagh Dr Lisa Turnbull Professor Kevin Marchbank Professor Tim Goodship	A novel hybrid complement gene associated with familial haemolytic uraemic syndrome	2010
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 syndrome	2010
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 history	2010
Dr Isabel Pappworth Dr Iain Moore Dr Lisa Turnbull Professor David Kavanagh James Staniforth et al.	Complement Factor H Autoantibodies and Age-Related Macular Degeneration	2010
Dr Isabel Pappworth Professor David Kavanagh Dr Iain Moore Dr Lisa Turnbull	Factor H autoantibodies are associated with MPGN	2010
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 syndrome	2010
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 uraemic	2010
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 Mutation	2010
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 G2850T	2010
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 mutation	2009
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 mutation	2009
Professor Kevin Marchbank Dr Lisa Turnbull Dr Veronique Fremaux-Bacchi James Staniforth Professor David Kavanagh et al.	Genomic disorders associated with aHUS	2009
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 stenosis	2009
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 syndrome	2009
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 sera	2009
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 Activity	2008
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 Illness	2008
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 syndrome	2008
Dr Lisa Turnbull Professor Tim Goodship	Plasma therapy in atypical haemolytic uremic syndrome: Lessons from a family with a factor H mutation	2008
Dr Lisa Turnbull Dr Veronique Fremaux-Bacchi Professor Tim Goodship	The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome	2008
Dr Lisa Turnbull Professor Tim Goodship	The European MPGN registry	2008
Dr Lisa Turnbull	A case of acute myeloid leukemia with inv(16)(p13q22) reveals a novel MYH11 breakpoint and a new CBFβ-MYH11 transcript variant	2007
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 activity	2007
Dr David Bourn Dr Lisa Turnbull	Audit of microsatellite instability testing procedures in moderate risk bowel cancer families	2007
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 syndrome	2007
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 functions	2007
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 gene	2006
Dr Lisa Turnbull Professor Tim Goodship	Complement factor H-associated atypical hemolytic uremic syndrome in monozygotic twins: Concordant presentation, discordant response to treatment	2006
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 syndrome	2006
Dr Lisa Turnbull Professor Tim Goodship	Favorable long-term outcome after liver-kidney transplant for recurrent hemolytic uremic syndrome associated with a factor H mutation	2006
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 syndrome	2006
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 ganciclovir	2005
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 cohorts	2005
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 transplantation	2004
Dr Lisa Turnbull Professor Tim Goodship	Challenges in the management if infantile factor H associated hemolytic uremic syndrome	2004
Dr Lisa Turnbull Dr Ann Curtis	Incidence of deletion and duplication mutations in HNPCC patients in the NE of England	2004
Dr Lisa Turnbull	The normal population distribution of PRNP codon 129 polymorphism	2003