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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: Hearing Loss and COL4A4[original query]
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
Thrombosis risk of Alport syndrome patients: evaluation of cardiological, clinical, biochemical, genetic and possible causes of inherited thrombophilia and identification of a novel COL4A3 variant.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2020 4 31 (4): 264-269.
Eroz Recep, Damar ?brahim H, K?l?çaslan Ond
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
Heterozygous Urinary Abnormality-Causing Variants of COL4A3 and COL4A4 Affect Severity of Autosomal Recessive Alport Syndrome.
Kidney360 2022 4 1 (9): 936-942.
Horinouchi Tomoko, Yamamura Tomohiko, Nagano China, Sakakibara Nana, Ishiko Shinya, Aoto Yuya, Rossanti Rini, Nakanishi Koichi, Shima Yuko, Morisada Naoya, Iijima Kazumoto, Nozu Kand
Genetic profiles of non-syndromic severe-profound hearing loss in Chinese Hans by whole-exome sequencing.
Gene 2022 2 819 146258.
Liu Ya, Tan Meihua, Cai Luhang, Lv Lihui, Chen Qingqing, Chen Wei, Yang Hang, Xu Yapi
[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
Genotype-Phenotype Correlations in Alport Syndrome-A Single-Center Experience.
Genes 2024 5 15 (5): .
?tefan Nicolaie Lujinschi, Bogdan Marian Sorohan, Bogdan Obri?c?, Alexandra Vrabie, Gabriela Lupu?oru, Camelia Achim, Andreea Gabriella Andronesi, Andreea Covic, Gener Isma
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