Recent advances in understanding and treating nephrotic syndrome

por Bierzynska, Agnieszka, Saleem, Moin
Publicado 2017

Deriving and understanding the risk of post-transplant recurrence of nephrotic syndrome in the light of current molecular and genetic advances

por Bierzynska, Agnieszka, Saleem, Moin A.
Publicado 2017

Genetic architecture of paediatric renal diseases in China and the need for data sharing

por Bierzynska, Agnieszka, Saleem, Moin A.
Publicado 2020

Genes and Podocytes – New Insights into Mechanisms of Podocytopathy

por Bierzynska, Agnieszka, Soderquest, Katrina, Koziell, Ania
Publicado 2015

Podocyte Bioenergetics in the Development of Diabetic Nephropathy: The Role of Mitochondria

por Audzeyenka, Irena, Bierżyńska, Agnieszka, Lay, Abigail C
Publicado 2021

A critical re-analysis of cases of post-transplantation recurrence in genetic nephrotic syndrome

por Mason, Anna E., Saleem, Moin A., Bierzynska, Agnieszka
Publicado 2021

Unilateral hypoplastic kidney - a novel highly penetrant feature of familial juvenile hyperuricaemic nephropathy

por Plumb, Lucy A, Marlais, Matko, Bierzynska, Agnieszka, Martin, Howard, Brugger, Kim, Abbs, Stephen, Saleem, Moin A
Publicado 2014

A role for OCRL in glomerular function and disease

por Preston, Rebecca, Naylor, Richard W, Stewart, Graham, Bierzynska, Agnieszka, Saleem, Moin A, Lowe, Martin, Lennon, Rachel
Publicado 2019

Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations

por Sen, Ethan S, Dean, Philip, Yarram-Smith, Laura, Bierzynska, Agnieszka, Woodward, Geoff, Buxton, Chris, Dennis, Gemma, Welsh, Gavin I, Williams, Maggie, Saleem, Moin A
Publicado 2017

Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease

por Lennon, Rachel, Stuart, Helen M., Bierzynska, Agnieszka, Randles, Michael J., Kerr, Bronwyn, Hillman, Katherine A., Batra, Gauri, Campbell, Joanna, Storey, Helen, Flinter, Frances A., Koziell, Ania, Welsh, Gavin I., Saleem, Moin A., Webb, Nicholas J. A., Woolf, Adrian S.
Publicado 2015

Shared genetic risk across different presentations of gene test–negative idiopathic nephrotic syndrome

por Downie, Mallory L., Gupta, Sanjana, Chan, Melanie M. Y., Sadeghi-Alavijeh, Omid, Cao, Jingjing, Parekh, Rulan S., Diz, Carmen Bugarin, Bierzynska, Agnieszka, Levine, Adam P., Pepper, Ruth J., Stanescu, Horia, Saleem, Moin A., Kleta, Robert, Bockenhauer, Detlef, Koziell, Ania B., Gale, Daniel P.
Publicado 2022

Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model

por Bierzynska, Agnieszka, Bull, Katherine, Miellet, Sara, Dean, Philip, Neal, Chris, Colby, Elizabeth, McCarthy, Hugh J., Hegde, Shivaram, Sinha, Manish D., Bugarin Diz, Carmen, Stirrups, Kathleen, Megy, Karyn, Mapeta, Rutendo, Penkett, Chris, Marsh, Sarah, Forrester, Natalie, Afzal, Maryam, Stark, Hannah, BioResource, NIHR, Williams, Maggie, Welsh, Gavin I., Koziell, Ania B., Hartley, Paul S., Saleem, Moin A.
Publicado 2022

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

por Prasad, Rathi, Hadjidemetriou, Irene, Maharaj, Avinaash, Meimaridou, Eirini, Buonocore, Federica, Saleem, Moin, Hurcombe, Jenny, Bierzynska, Agnieszka, Barbagelata, Eliana, Bergadá, Ignacio, Cassinelli, Hamilton, Das, Urmi, Krone, Ruth, Hacihamdioglu, Bulent, Sari, Erkan, Yesilkaya, Ediz, Storr, Helen L., Clemente, Maria, Fernandez-Cancio, Monica, Camats, Nuria, Ram, Nanik, Achermann, John C., Van Veldhoven, Paul P., Guasti, Leonardo, Braslavsky, Debora, Guran, Tulay, Metherell, Louise A.
Publicado 2017

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

por Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, Lipska-Ziętkiewicz, Beata S.
Publicado 2021

FAT1 mutations cause a glomerulotubular nephropathy

por Gee, Heon Yung, Sadowski, Carolin E., Aggarwal, Pardeep K., Porath, Jonathan D., Yakulov, Toma A., Schueler, Markus, Lovric, Svjetlana, Ashraf, Shazia, Braun, Daniela A., Halbritter, Jan, Fang, Humphrey, Airik, Rannar, Vega-Warner, Virginia, Cho, Kyeong Jee, Chan, Timothy A., Morris, Luc G. T., ffrench-Constant, Charles, Allen, Nicholas, McNeill, Helen, Büscher, Rainer, Kyrieleis, Henriette, Wallot, Michael, Gaspert, Ariana, Kistler, Thomas, Milford, David V., Saleem, Moin A., Keng, Wee Teik, Alexander, Stephen I., Valentini, Rudolph P., Licht, Christoph, Teh, Jun C., Bogdanovic, Radovan, Koziell, Ania, Bierzynska, Agnieszka, Soliman, Neveen A., Otto, Edgar A., Lifton, Richard P., Holzman, Lawrence B., Sibinga, Nicholas E. S., Walz, Gerd, Tufro, Alda, Hildebrandt, Friedhelm
Publicado 2016