HuGE Literature Finder
Records 1-5
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
Journal of the American Society of Nephrology : JASN 2015 Jun 26 (6): 1279-89. Sadowski Carolin E, Lovric Svjetlana, Ashraf Shazia, Pabst Werner L, Gee Heon Yung, Kohl Stefan, Engelmann Susanne, Vega-Warner Virginia, Fang Humphrey, Halbritter Jan, Somers Michael J, Tan Weizhen, Shril Shirlee, Fessi Inès, Lifton Richard P, Bockenhauer Detlef, El-Desoky Sherif, Kari Jameela A, Zenker Martin, Kemper Markus J, Mueller Dominik, Fathy Hanan M, Soliman Neveen A, , Hildebrandt Friedhe |
Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome.
Clinical journal of the American Society of Nephrology : CJASN 2013 Jan . McCarthy HJ, Bierzynska A, Wherlock M, Ognjanovic M, Kerecuk L, Hegde S, Feather S, Gilbert RD, Krischock L, Jones C, Sinha MD, Webb NJ, Christian M, Williams MM, Marks S, Koziell A, Welsh GI, Saleem MA |
Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.
Clinical journal of the American Society of Nephrology : CJASN 2011 May 6 (5): 1139-48. Santín Sheila, Bullich Gemma, Tazón-Vega Bárbara, García-Maset Rafael, Giménez Isabel, Silva Irene, Ruíz Patricia, Ballarín José, Torra Roser, Ars Elisab |
Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
Journal of the American Society of Nephrology : JASN 2010 Jul 21 (7): 1209-17. Machuca Eduardo, Benoit Geneviève, Nevo Fabien, Tête Marie-Josèphe, Gribouval Olivier, Pawtowski Audrey, Brandström Per, Loirat Chantal, Niaudet Patrick, Gubler Marie-Claire, Antignac Corin |
Exclusion of homozygous PLCE1 (NPHS3) mutations in 69 families with idiopathic and hereditary FSGS.
Pediatric nephrology (Berlin, Germany) 2009 Feb 24 (2): 281-5. Gbadegesin Rasheed, Bartkowiak Bartlomiej, Lavin Peter J, Mukerji Nirvan, Wu Guanghong, Bowling Brandy, Eckel Jason, Damodaran Tirupapuliyur, Winn Michelle |
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