Human Genome Epidemiology Literature Finder
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Records 1 - 14 (of 14 Records) |
| Query Trace: Proteinuria and COL4A3[original query] |
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| COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN). Kidney international 2004 Mar 65 (3): 786-90. Wang Yan Yan, Rana Kesha, Tonna Stephen, Lin Tina, Sin Lydia, Savige Ju |
| The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy. Pediatric nephrology (Berlin, Germany) 2008 Dec 23 (12): 2201-7. Tonna Stephen, Wang Yan Yan, Wilson Diane, Rigby Lin, Tabone Tania, Cotton Richard, Savige Ju |
| Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria. Pediatric nephrology (Berlin, Germany) 2012 Apr 27 (4): 675-9. Voskarides Konstantinos, Arsali Maria, Athanasiou Yiannis, Elia Avraam, Pierides Alkis, Deltas Constantin |
| Epistatic role of the MYH9/APOL1 region on familial hematuria genes. PloS one 2013 8 (3): e57925. Voskarides Konstantinos, Demosthenous Panayiota, Papazachariou Louiza, Arsali Maria, Athanasiou Yiannis, Zavros Michalis, Stylianou Kostas, Xydakis Dimitris, Daphnis Eugenios, Gale Daniel P, Maxwell Patrick H, Elia Avraam, Pattaro Cristian, Pierides Alkis, Deltas Constantin |
| Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure. Nephron 2015 130 (3): 200-12. Stefanou Charalambos, Pieri Myrtani, Savva Isavella, Georgiou Georgia, Pierides Alkis, Voskarides Konstantinos, Deltas Constantin |
| COL4A3 mutations cause focal segmental glomerulosclerosis. Journal of molecular cell biology 2014 Dec 6 (6): 498-505. Xie Jingyuan, Wu Xiaoxi, Ren Hong, Wang Weiming, Wang Zhaohui, Pan Xiaoxia, Hao Xu, Tong Jun, Ma Jun, Ye Zhibin, Meng Guoyu, Zhu Yufei, Kiryluk Krzysztof, Kong Xiangyin, Hu Landian, Chen N |
| Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy. Pediatric nephrology (Berlin, Germany) 2016 Jan . Weber Stefanie, Strasser Katja, Rath Sabine, Kittke Achim, Beicht Sonja, Alberer Martin, Lange-Sperandio Bärbel, Hoyer Peter F, Benz Marcus R, Ponsel Sabine, Weber Lutz T, Klein Hanns-Georg, Hoefele Jul |
| COL4A3 Gene Variants and Diabetic Kidney Disease in MODY. Clinical journal of the American Society of Nephrology : CJASN 2018 7 13 (8): 1162-1171. Wang Yiting, Zhang Junlin, Zhao Yingwang, Wang Shanshan, Zhang Jie, Han Qianqian, Zhang Rui, Guo Ruikun, Li Hanyu, Li Li, Wang Tingli, Tang Xi, He Changzheng, Teng Geer, Gu Weiyue, Liu Fa |
Sequence variants associating with urinary biomarkers.
Human molecular genetics 2019 04 28 (7): 1199-1211. Benonisdottir Stefania, Kristjansson Ragnar P, Oddsson Asmundur, Steinthorsdottir Valgerdur, Mikaelsdottir Evgenia, Kehr Birte, Jensson Brynjar O, Arnadottir Gudny A, Sulem Gerald, Sveinbjornsson Gardar, Kristmundsdottir Snaedis, Ivarsdottir Erna V, Tragante Vinicius, Gunnarsson Bjarni, Runolfsdottir Hrafnhildur Linnet, Arthur Joseph G, Deaton Aimee M, Eyjolfsson Gudmundur I, Davidsson Olafur B, Asselbergs Folkert W, Hreidarsson Astradur B, Rafnar Thorunn, Thorleifsson Gudmar, Edvardsson Vidar, Sigurdsson Gunnar, Helgadottir Anna, Halldorsson Bjarni V, Masson Gisli, Holm Hilma, Onundarson Pall T, Indridason Olafur S, Benediktsson Rafn, Palsson Runolfur, Gudbjartsson Daniel F, Olafsson Isleifur, Thorsteinsdottir Unnur, Sulem Patrick, Stefansson Ka |
| X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases. Frontiers in medicine 2020 12 7 580376. Mastrangelo Antonio, Giani Marisa, Groppali Elena, Castorina Pierangela, Soldà Giulia, Robusto Michela, Fallerini Chiara, Bruttini Mirella, Renieri Alessandra, Montini Giovan |
| Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients. Journal of human genetics 2021 3 66 (8): 795-803. Ammar Sawssan, Kanoun Houda, Kammoun Khawla, Domingo-Gallego Andrea, Ruiz Patricia, Lorente-Grandoso Laura, Pybus Marc, Maalej Bayen, Boudawara Tahya, Kamoun Hassen, Ben Hmida Mohamed, Ars Elisabet, Jarraya Faiç |
| Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome. Pediatric nephrology (Berlin, Germany) 2021 3 36 (9): 2719-2730. Zhang Yanqin, Böckhaus Jan, Wang Fang, Wang Suxia, Rubel Diana, Gross Oliver, Ding J |
| The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy-A human genetics department experience. Frontiers in medicine 2022 9 9 957733. ?omi? Jasmina, Riedhammer Korbinian M, Günthner Roman, Schaaf Christian W, Richthammer Patrick, Simmendinger Hannes, Kieffer Donald, Berutti Riccardo, Tasic Velibor, Abazi-Emini Nora, Nushi-Stavileci Valbona, Putnik Jovana, Stajic Nataša, Lungu Adrian, Gross Oliver, Renders Lutz, Heemann Uwe, Braunisch Matthias C, Meitinger Thomas, Hoefele Jul |
| [Genetic analysis of a patient with Alport syndrome due to compound heterozygous variants of COL4A4 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 8 40 (9): 1150-1154. Bingbing Yang, Fengxun Liu, Lanlan Zou, Xiaoling Xue, Jinhong Mi |
- Page last reviewed:Feb 1, 2023
- Page last updated:Sep 29, 2023
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