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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Nephrotic Syndrome and COQ2[original query]
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
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
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.
Human mutation 2017 12 39 (3): 406-414.
Vazquez Fonseca Luis, Doimo Mara, Calderan Cristina, Desbats Maria Andrea, Acosta Manuel J, Cerqua Cristina, Cassina Matteo, Ashraf Shazia, Hildebrandt Friedhelm, Sartori Geppo, Navas Placido, Trevisson Eva, Salviati Leonar
Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93.
Pediatric nephrology (Berlin, Germany) 2018 Jun .
Bezdí?ka Martin, Štolbová Šárka, Seeman Tomáš, Cinek Ond?ej, Malina Michal, Šimánková Nad?žda, Pr?hová Št?pánka, Zieg Jak
Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome.
BMC nephrology 2018 12 19 (1): 382.
Li Guo-Min, Cao Qi, Shen Qian, Sun Li, Zhai Yi-Hui, Liu Hai-Mei, An Yu, Xu Ho
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
Steroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population.
Kidney international reports 2024 12 9 (12): 3501-3516.
Andreia Watanabe, Precil Diego Miranda de Menezes Neves, Kelly Nunes, Antonio Marcondes Lerario, Elieser Hitoshi Watanabe, Frederico Moraes Ferreira, Denise Maria Avancini Costa Malheiros, Amanda de Moraes Narcizo, Mara Sanches Guaragna, Stanley de Almeida Araujo, Thais Medeiros Cruz, Jussara Soares Fontes, Vera Maria Santoro Belangero, Maria Helena Vaisbich, Friedhelm Hildebrandt, Matthew Gordon Sampson, Luiz Fernando Onuch
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