Nephronophthisis: A Genetically Diverse Ciliopathy

Por Simms, Roslyn J., Hynes, Ann Marie, Eley, Lorraine, Sayer, John A.
Publicado em 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 no Clin Kidney J (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 no NDT Plus (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 em 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 no BMC Med Genet (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 em 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 em 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 no Clin Kidney J (2015)

Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis

Por Halbritter, Jan, Baum, Michelle, Hynes, Ann Marie, Rice, Sarah J., Thwaites, David T., Gucev, Zoran S., Fisher, Brittany, Spaneas, Leslie, Porath, Jonathan D., Braun, Daniela A., Wassner, Ari J., Nelson, Caleb P., Tasic, Velibor, Sayer, John A., Hildebrandt, Friedhelm
Publicado no J Am Soc Nephrol (2015)

Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis

Por Hynes, Ann Marie, Giles, Rachel H., Srivastava, Shalabh, Eley, Lorraine, Whitehead, Jennifer, Danilenko, Marina, Raman, Shreya, Slaats, Gisela G., Colville, John G., Ajzenberg, Henry, Kroes, Hester Y., Thelwall, Peter E., Simmons, Nicholas L., Miles, Colin G., Sayer, John A.
Publicado em 2014

DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome

Por Slaats, Gisela G., Saldivar, Joshua C., Bacal, Julien, Zeman, Michelle K., Kile, Andrew C., Hynes, Ann Marie, Srivastava, Shalabh, Nazmutdinova, Jekaterina, den Ouden, Krista, Zagers, Miriam S., Foletto, Veronica, Verhaar, Marianne C., Miles, Colin, Sayer, John A., Cimprich, Karlene A., Giles, Rachel H.
Publicado no J Clin Invest (2015)