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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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Dr Lisa Turnbull Professor Tim Goodship
| Dense deposits disease (DDD): Favorable long-term outcome on enalapril despite persistence of complement activation | 2012 |
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Professor Tim Goodship Dr Isabel Pappworth Dr Iain Moore Dr Eva-Maria Hunze James Staniforth et al. | Factor H autoantibodies in membranoproliferative glomerulonephritis | 2012 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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Professor David Kavanagh Dr Lisa Turnbull Professor Kevin Marchbank Professor Tim Goodship
| A novel hybrid complement gene associated with familial haemolytic uraemic syndrome | 2010 |
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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 |
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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 |
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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 |
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Dr Isabel Pappworth Professor David Kavanagh Dr Iain Moore Dr Lisa Turnbull
| Factor H autoantibodies are associated with MPGN | 2010 |
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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 |
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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 |
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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 |
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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 |
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Professor Kevin Marchbank Professor David Kavanagh Dr Lisa Turnbull Professor Tim Goodship
| Triggering of atypical hemolytic uremic syndrome by influenza A (H1N1) | 2010 |
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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 |
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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 |
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Professor Kevin Marchbank Dr Lisa Turnbull Dr Veronique Fremaux-Bacchi James Staniforth Professor David Kavanagh et al. | Genomic disorders associated with aHUS | 2009 |
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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 |
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Dr Matthew Edey Dr Lisa Turnbull Professor Tim Goodship
| Is complement factor H a susceptibility factor for IgA nephropathy? | 2009 |
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Dr Lisa Turnbull Professor Tim Goodship
| Prophylactic plasma exchange in CD46-associated atypical haemolytic uremic syndrome | 2009 |
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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 |
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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 |
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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 |
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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 |
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Dr Lisa Turnbull Professor Tim Goodship
| Effect of plasma exchanges (PEs) in 2 cases of dense deposit disease (DDD) | 2008 |
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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 |
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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 |
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Dr Lisa Turnbull Professor Tim Goodship
| Plasma therapy in atypical haemolytic uremic syndrome: Lessons from a family with a factor H mutation | 2008 |
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Dr Lisa Turnbull Dr Veronique Fremaux-Bacchi Professor Tim Goodship
| The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome | 2008 |
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Dr Lisa Turnbull Professor Tim Goodship
| The European MPGN registry | 2008 |
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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 |
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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 |
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Dr David Bourn Dr Lisa Turnbull
| Audit of microsatellite instability testing procedures in moderate risk bowel cancer families | 2007 |
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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 |
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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 |
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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 |
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Dr Lisa Turnbull Professor Tim Goodship
| Complement factor H-associated atypical hemolytic uremic syndrome in monozygotic twins: Concordant presentation, discordant response to treatment | 2006 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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Dr Lisa Turnbull Professor Tim Goodship
| Atypical relapse of hemolytic uremic syndrome after transplantation | 2004 |
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Dr Lisa Turnbull Professor Tim Goodship
| Challenges in the management if infantile factor H associated hemolytic uremic syndrome | 2004 |
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Dr Lisa Turnbull Dr Ann Curtis
| Incidence of deletion and duplication mutations in HNPCC patients in the NE of England | 2004 |
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Dr Lisa Turnbull
| The normal population distribution of PRNP codon 129 polymorphism | 2003 |
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