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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 - 13 (of 13 Records)

Query Trace: Nephrotic Syndrome and INF2[original query]
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
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,
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.
European journal of human genetics : EJHG 2015 Sep 23 (9): 1192-9.
Bullich Gemma, Trujillano Daniel, Santín Sheila, Ossowski Stephan, Mendizábal Santiago, Fraga Gloria, Madrid Álvaro, Ariceta Gema, Ballarín José, Torra Roser, Estivill Xavier, Ars Elisab
Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.
Pediatric nephrology (Berlin, Germany) 2017 Sep .
Tan Weizhen, Lovric Svjetlana, Ashraf Shazia, Rao Jia, Schapiro David, Airik Merlin, Shril Shirlee, Gee Heon Yung, Baum Michelle, Daouk Ghaleb, Ferguson Michael A, Rodig Nancy, Somers Michael J G, Stein Deborah R, Vivante Asaf, Warejko Jillian K, Widmeier Eugen, Hildebrandt Friedhe
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
Genetic Testing for Steroid-Resistant-Nephrotic Syndrome in an Outbred Population.
Frontiers in pediatrics 2018 11 6 307.
Varner Jennifer D, Chryst-Stangl Megan, Esezobor Christopher Imokhuede, Solarin Adaobi, Wu Guanghong, Lane Brandon, Hall Gentzon, Abeyagunawardena Asiri, Matory Ayo, Hunley Tracy E, Lin Jen Jar, Howell David, Gbadegesin Rashe
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
Molecular Study of Childhood Steroid-Resistant Nephrotic Syndrome: A Hospital-Based Study.
Journal of pediatric genetics 2022 8 11 (3): 185-191.
Singh Akanksha, Singh Ankur, Mishra Om Prakash, Prasad Rajniti, Narayan Gopeshwar, Batra Vineeta V, Tabatabaeifar Mansoureh, Schaefer Fra
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
The Frequency of Genetic Mutations in Pediatric Patients Diagnosed with Nephrotic Syndrome: A Single-Center Retrospective Study in Saudi Arabia.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia 2022 2 32 (3): 798-805.
Almokali Khamisa, Alyami Ali, Ajeebi Abdulaziz, Almutairi Turki, Aldriwesh Mar
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