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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 12, 2024. (Total: 232444Documents)
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Records 1 - 8 (of 8 Records)

Query Trace: Nephrotic Syndrome and CD2AP[original query]
WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes.
Pediatric nephrology (Berlin, Germany) 2006 Oct 21 (10): 1393-8.
Aucella Filippo, Bisceglia Luigi, De Bonis Patrizia, Gigante Maddalena, Caridi Gianluca, Barbano Giancarlo, Mattioli Gerolamo, Perfumo Francesco, Gesualdo Loreto, Ghiggeri Gian Mar
CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS).
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2009 Jun 24 (6): 1858-64.
Gigante Maddalena, Pontrelli Paola, Montemurno Eustacchio, Roca Leonarda, Aucella Filippo, Penza Rosa, Caridi Gianluca, Ranieri Elena, Ghiggeri Gian Marco, Gesualdo Lore
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
Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis.
Kidney international 2013 Feb 83 (2): 316-22.
Barua Moumita, Brown Elizabeth J, Charoonratana Victoria T, Genovese Giulio, Sun Hua, Pollak Martin
Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.
Clinical nephrology 2012 Jul 78 (1): 47-53.
Büscher Anja K, Konrad Martin, Nagel Mato, Witzke Oliver, Kribben Andreas, Hoyer Peter F, Weber Stefan
NPHS2 V260E Is a Frequent Cause of Steroid-Resistant Nephrotic Syndrome in Black South African Children.
Kidney international reports 2018 11 3 (6): 1354-1362.
Asharam Kareshma, Bhimma Rajendra, David Victor A, Coovadia Hoosen M, Qulu Wenkosi P, Naicker Thajasvarie, Gillies Christopher E, Vega-Warner Virginia, Johnson Randall C, Limou Sophie, Kopp Jeffrey B, Sampson Mathew, Nelson George W, Winkler Cheryl
A Systematic Analysis of Major Susceptible Genes in Childhood-onset Steroid-resistant Nephrotic Syndrome.
Annals of clinical and laboratory science 2019 7 49 (3): 330-337.
Li Yongzhen, He Qingnan, Wang Ying, Dang Xiqiang, Wu Xiaochuan, Li Xiaoyan, Shuai Lanjun, Yi Zhuw
Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa.
European journal of pediatrics 2022 Oct 181 (10): 3595-3606.
Nandlal Louansha, Winkler Cheryl A, Bhimma Rajendra, Cho Sungkweon, Nelson George W, Haripershad Sudesh, Naicker Thajasvar
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