Nephronophthisis: A Genetically Diverse Ciliopathy

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

Successful treatment of hypercalcaemia associated with a CYP24A1 mutation with fluconazole

por Sayers, Judith, Hynes, Ann Marie, Srivastava, Shalabh, Dowen, Frances, Quinton, Richard, Datta, Harish K., Sayer, John A.
Publicado 2015

Senior-Loken syndrome secondary to NPHP5/IQCB1 mutation in an Iranian family

por Haghighi, Alireza, Al-Hamed, Mohamed, Al-Hissi, Safa, Hynes, Ann-Marie, Sharifian, Maryam, Roozbeh, Jamshid, Saleh-Gohari, Nasrollah, Sayer, John A.
Publicado 2011

Clinical and Functional Characterization of URAT1 Variants

por Tasic, Velibor, Hynes, Ann Marie, Kitamura, Kenichiro, Cheong, Hae Il, Lozanovski, Vladimir J., Gucev, Zoran, Jutabha, Promsuk, Anzai, Naohiko, Sayer, John A.
Publicado 2011

Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report

por Montgomery, Emma, Sayer, John A., Baines, Laura A., Hynes, Ann Marie, Vega-Warner, Virginia, Johnson, Sally, Goodship, Judith A., Otto, Edgar A.
Publicado 2015

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

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

A novel LMX1B mutation in a family with end-stage renal disease of ‘unknown cause’

por Edwards, Noel, Rice, Sarah J., Raman, Shreya, Hynes, Ann Marie, Srivastava, Shalabh, Moore, Iain, Al-Hamed, Mohamed, Xu, Yaobo, Santibanez-Koref, Mauro, Thwaites, David T., Gale, Daniel P., Sayer, John A.
Publicado 2015

Adjuvant rituximab, a potential treatment for the young patient with Graves’ hyperthyroidism (RiGD): study protocol for a single-arm, single-stage, phase II trial

por Cole, Michael, Hynes, Ann Marie, Howel, Denise, Hall, Lesley, Abinun, Mario, Allahabadia, Amit, Barrett, Timothy, Boelaert, Kristien, Drake, Amanda J, Dimitri, Paul, Kirk, Jeremy, Zammitt, Nicola, Pearce, Simon, Cheetham, Tim
Publicado 2019

Nasal Airway Obstruction Study (NAIROS): a phase III, open-label, mixed-methods, multicentre randomised controlled trial of septoplasty versus medical management of a septal deviat...

por Rennie, Katherine J., O’Hara, James, Rousseau, Nikki, Stocken, Deborah, Howel, Denise, Ternent, Laura, Drinnan, Mike, Bray, Alison, Rooshenas, Leila, Hamilton, David W., Steel, Alison, Fouweather, Tony, Hynes, Ann-Marie, Holstein, Eva-Maria, Oluboyede, Yemi, Abouhajar, Alaa, Wilson, Janet A., Carrie, Sean
Publicado 2020