Nephronophthisis: A Genetically Diverse Ciliopathy

por Simms, Roslyn J., Hynes, Ann Marie, Eley, Lorraine, Sayer, John A.
Publicado 2011

Individualized everolimus treatment for tuberous sclerosis-related angiomyolipoma promotes treatment adherence and response

por Chung, Noelle K X, Metherall, Peter, McCormick, Janet A, Simms, Roslyn J, Ong, Albert C M
Publicado 2022

Investigating Embryonic Expression Patterns and Evolution of AHI1 and CEP290 Genes, Implicated in Joubert Syndrome

por Cheng, Yu-Zhu, Eley, Lorraine, Hynes, Ann-Marie, Overman, Lynne M., Simms, Roslyn J., Barker, Amy, Dawe, Helen R., Lindsay, Susan, Sayer, John A.
Publicado 2012

A rapid high-performance semi-automated tool to measure total kidney volume from MRI in autosomal dominant polycystic kidney disease

por Simms, Roslyn J., Doshi, Trushali, Metherall, Peter, Ryan, Desmond, Wright, Peter, Gruel, Nicolas, van Gastel, Maatje D. A., Gansevoort, Ron T., Tindale, Wendy, Ong, Albert C. M.
Publicado 2019

Functional modelling of a novel mutation in BBS5

por Al-Hamed, Mohamed H, van Lennep, Charles, Hynes, Ann Marie, Chrystal, Paul, Eley, Lorraine, Al-Fadhly, Fatimah, El Sayed, Riham, Simms, Roslyn J, Meyer, Brian, Sayer, John A
Publicado 2014

Flank pain has a significant adverse impact on quality of life in ADPKD: the CYSTic-QoL study

por Winterbottom, Jean, Simms, Roslyn J, Caroli, Anna, Gall, Emilie Cornec-Le, Demoulin, Nathalie, Furlano, Monica, Meijer, Esther, Devuyst, Olivier, Gansevoort, Ron T, Le-Meur, Yannick, Perico, Norberto, Torra, Roser, Ong, Albert C M
Publicado 2022

Research priorities for autosomal dominant polycystic kidney disease: a UK priority setting partnership

por Harris, Tess, Bridges, Hannah R, Brown, Wendy D, O’Brien, Natasha L, Daly, Ann C, Jindal, Bharat K, Mundy, Gillian S, Ong, Albert, Power, Albert J, Sandford, Richard N, Sayer, John, Simms, Roslyn J, Wilson, Patricia D, Winyard, Paul J D, Tarpey, Maryrose
Publicado 2022

Magnetic resonance imaging biomarkers for chronic kidney disease: a position paper from the European Cooperation in Science and Technology Action PARENCHIMA

por Selby, Nicholas M, Blankestijn, Peter J, Boor, Peter, Combe, Christian, Eckardt, Kai-Uwe, Eikefjord, Eli, Garcia-Fernandez, Nuria, Golay, Xavier, Gordon, Isky, Grenier, Nicolas, Hockings, Paul D, Jensen, Jens D, Joles, Jaap A, Kalra, Philip A, Krämer, Bernhard K, Mark, Patrick B, Mendichovszky, Iosif A, Nikolic, Olivera, Odudu, Aghogho, Ong, Albert C M, Ortiz, Alberto, Pruijm, Menno, Remuzzi, Giuseppe, Rørvik, Jarle, de Seigneux, Sophie, Simms, Roslyn J, Slatinska, Janka, Summers, Paul, Taal, Maarten W, Thoeny, Harriet C, Vallée, Jean-Paul, Wolf, Marcos, Caroli, Anna, Sourbron, Steven
Publicado 2018