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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 17, 2025. (Total: 235411Documents)
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Records 1 - 13 (of 13 Records)

Query Trace: Nephrotic Syndrome and ACTN4[original query]
Molecular analysis of NPHS2 and ACTN4 genes in a series of 33 Italian patients affected by adult-onset nonfamilial focal segmental glomerulosclerosis.
Nephron. Clinical practice 2005 1 99 (2): c31-6.
Aucella Filippo, De Bonis Patrizia, Gatta Giuseppe, Muscarella Lucia Anna, Vigilante Mimmo, di Giorgio Giuseppe, D'Errico Michele, Zelante Leopoldo, Stallone Carmine, Bisceglia Lui
ACTN4 gene mutations and single nucleotide polymorphisms in idiopathic focal segmental glomerulosclerosis.
Nephron. Clinical practice 2009 111 (2): c87-94.
Dai Shengchuan, Wang Zhaohui, Pan Xiaoxia, Chen Xiaonong, Wang Weiming, Ren Hong, Feng Qi, He John Cijiang, Han Bin, Chen N
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
Mutational analysis of ACTN4, encoding a-actinin 4, in patients with focal segmental glomerulosclerosis using HRM method.
Folia biologica 2013 59 (3): 110-5.
Safa?íková M, Reiterová J, Safránková H, Stekrová J, Zidková A, Obeidová L, Kohoutová M, Tesa?
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
Kidney international 2013 Jul 84 (1): 206-13.
Lipska Beata S, Iatropoulos Paraskevas, Maranta Ramona, Caridi Gianluca, Ozaltin Fatih, Anarat Ali, Balat Ayse, Gellermann Jutta, Trautmann Agnes, Erdogan Ozlem, Saeed Bassam, Emre Sevinc, Bogdanovic Radovan, Azocar Marta, Balasz-Chmielewska Irena, Benetti Elisa, Caliskan Salim, Mir Sevgi, Melk Anette, Ertan Pelin, Baskin Esra, Jardim Helena, Davitaia Tinatin, Wasilewska Anna, Drozdz Dorota, Szczepanska Maria, Jankauskiene Augustina, Higuita Lina Maria Serna, Ardissino Gianluigi, Ozkaya Ozan, Kuzma-Mroczkowska Elzbieta, Soylemezoglu Oguz, Ranchin Bruno, Medynska Anna, Tkaczyk Marcin, Peco-Antic Amira, Akil Ipek, Jarmolinski Tomasz, Firszt-Adamczyk Agnieszka, Dusek Jiri, Simonetti Giacomo D, Gok Faysal, Gheissari Alaleh, Emma Francesco, Krmar Rafael T, Fischbach Michel, Printza Nikoleta, Simkova Eva, Mele Caterina, Ghiggeri Gian Marco, Schaefer Franz,
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
Kidney podocyte-associated gene polymorphisms affect tacrolimus concentration in pediatric patients with refractory nephrotic syndrome.
The pharmacogenomics journal 2020 Jan .
Mo Xiaolan, Li Jiali, Liu Yunfeng, Liao Xin, Tan Mei, Chen Yilu, He Fan, He Yanling, Li Yingjie, Huang M
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
Prediction of Tacrolimus Dose/Weight-Adjusted Trough Concentration in Pediatric Refractory Nephrotic Syndrome: A Machine Learning Approach.
Pharmacogenomics and personalized medicine 2022 3 15 143-155.
Mo Xiaolan, Chen Xiujuan, Wang Xianggui, Zhong Xiaoli, Liang Huiying, Wei Yuanyi, Deng Houliang, Hu Rong, Zhang Tao, Chen Yilu, Gao Xia, Huang Min, Li Jia
Tacrolimus pharmacokinetics in pediatric nephrotic syndrome: A combination of population pharmacokinetic modelling and machine learning approaches to improve individual prediction.
Frontiers in pharmacology 2022 12 13 942129.
Huang Qiongbo, Lin Xiaobin, Wang Yang, Chen Xiujuan, Zheng Wei, Zhong Xiaoli, Shang Dewei, Huang Min, Gao Xia, Deng Hui, Li Jiali, Zeng Fangling, Mo Xiaol
Analysis of the association of NPHS2 and ACTN4 genes polymorphism with nephrotic syndrome in Egyptian children.
Molecular biology reports 2023 4 .
Al-Azzawy Mohammed F, Al-Haggar Mohammad, ElSaid Afaf M, El-Khawaga Omali
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