Browsing publications by Dr Ann Marie Hynes

Newcastle AuthorsTitleYearFull text
Dr Noel Edwards
Sarah Rice
Dr Ann Marie Hynes
Dr Samir Srivastava
Dr Iain Moore
et al.
A novel LMX1B mutation in a family with end-stage renal disease of ‘unknown cause’2015
Dr Ann Marie Hynes
Sarah Rice
Professor David Thwaites
Dr John Sayer
Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis2015
Dr Ann Marie Hynes
Dr Samir Srivastava
Dr Richard Quinton
Dr Harish Datta
Dr John Sayer
et al.
Successful treatment of hypercalcaemia associated with a CYP24A1 mutation with fluconazole2015
Dr Ann Marie Hynes
Dr John Sayer
CYP24A1 mutation leading to nephrocalcinosis2014
Dr Ann Marie Hynes
Dr Shalabh Srivastava
Dr Lorraine Eley
Marina Danilenko
Dr Peter Thelwall
et al.
Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis2014
Dr YuZhu Cheng
Dr Lorraine Eley
Dr Ann Marie Hynes
Lynne Overman
Dr Roslyn Simms
et al.
Investigating Embryonic Expression Patterns and Evolution of AHI1 and CEP290 Genes, Implicated in Joubert Syndrome2012
Dr Ann Marie Hynes
Dr John Sayer
Is there anything good in uric acid?2012
Dr Ann Marie Hynes
Dr John Sayer
Clinical and Functional Characterization of URAT1 Variants2011
Dr Roslyn Simms
Dr Ann Marie Hynes
Dr Lorraine Eley
Dr Bill Chaudhry
Dr John Sayer
et al.
Modelling a ciliopathy: ahi1 knockdown in model systems reveals an essential role in brain, retinal and renal development2011
Dr Roslyn Simms
Dr Ann Marie Hynes
Dr Lorraine Eley
Dr John Sayer
Nephronophthisis: a genetically diverse ciliopathy2011