Publications by Dr Roslyn Simms - ePrints

Browsing publications by Dr Roslyn Simms.

Newcastle Authors	Title	Year
Dr Roslyn Simms	Genetic Testing in the Assessment of Living Related Kidney Donors at Risk of Autosomal Dominant Polycystic Kidney Disease	2015
Dr Roslyn Simms	Epidemiology of patients in England and Wales with autosomal dominant polycystic kidney disease and end-stage renal failure	2014
Mohamed Al-Hamed Dr Charles van Lennep Dr Ann Marie Hynes Paul Chrystal Dr Lorraine Eley et al.	Functional modelling of a novel mutation in BBS5	2014
Dr Roslyn Simms	How simple are 'simple renal cysts'?	2014
Professor John Sayer Dr Roslyn Simms	The challenges and surprises of a definitive molecular genetic diagnosis	2014
Dr Roslyn Simms Claire Logan Professor John Sayer	A meckelin-filamin A interaction mediates ciliogenesis	2012
Mohamed Al-Hamed Dr Roslyn Simms Professor John Sayer	Investigating Bardet Biedl syndrome: identification and modelling of a novel mutation in BBS5	2012
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 Syndrome	2012
Dr Roslyn Simms David Talbot Dr Suren Kanagasundaram	Posttransplant Lymphoproliferative Disorder Presenting as Multiple Cystic Lesions in a Renal Transplant Recipient	2012
Dr Roslyn Simms Dr Ann Marie Hynes Dr Lorraine Eley Dr Bill Chaudhry Professor John Sayer et al.	Modelling a ciliopathy: ahi1 knockdown in model systems reveals an essential role in brain, retinal and renal development	2011
Dr Roslyn Simms Professor John Sayer Dr Richard Quinton Professor Mark Walker Professor Tim Goodship et al.	Monogenic diabetes, renal dysplasia and hypopituitarism: a patient with a HNF1A mutation	2011
Dr Roslyn Simms Dr Ann Marie Hynes Dr Lorraine Eley Professor John Sayer	Nephronophthisis: a genetically diverse ciliopathy	2011
Dr Roslyn Simms Professor John Sayer	Juvenile nephronophthisis on MRI-a potential case of Joubert syndrome?	2010
Dr Lorraine Eley Dr Roslyn Simms Dr Colin Miles Professor John Sayer	Development of a Novel Murine Model of Nephronophthisis	2009
Dr Roslyn Simms Dr Lorraine Eley Professor John Sayer	Nephronophthisis	2009
Dr Roslyn Simms Professor John Sayer	Tc99m WCC identifies occult abscess in a polycystic kidney	2009
Dr Roslyn Simms Dr Nicholas Torpey Dr Suren Kanagasundaram Professor John Sayer	Emphysematous pyelonephritis leading to end-stage renal failure	2008
Dr Lorraine Eley Dr Shabbir Moochhala Dr Roslyn Simms Professor John Sayer	Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct	2008