These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
155 related articles for article (PubMed ID: 24472419)
1. Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant. Gibson J; Gilbert RD; Bunyan DJ; Angus EM; Fowler DJ; Ennis S Genet Res (Camb); 2013 Dec; 95(6):165-73. PubMed ID: 24472419 [TBL] [Abstract][Full Text] [Related]
2. Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuria. Chatterjee R; Hoffman M; Cliften P; Seshan S; Liapis H; Jain S PLoS One; 2013; 8(10):e76360. PubMed ID: 24130771 [TBL] [Abstract][Full Text] [Related]
3. Kidney Injury by Variants in the Frese J; Kettwig M; Zappel H; Hofer J; Gröne HJ; Nagel M; Sunder-Plassmann G; Kain R; Neuweiler J; Gross O Int J Mol Sci; 2019 Jan; 20(3):. PubMed ID: 30691124 [TBL] [Abstract][Full Text] [Related]
4. Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis. Pierides A; Voskarides K; Athanasiou Y; Ioannou K; Damianou L; Arsali M; Zavros M; Pierides M; Vargemezis V; Patsias C; Zouvani I; Elia A; Kyriacou K; Deltas C Nephrol Dial Transplant; 2009 Sep; 24(9):2721-9. PubMed ID: 19357112 [TBL] [Abstract][Full Text] [Related]
5. Zhang P; Zhuo L; Zou Y; Li G; Peng K Clin Nephrol; 2019 Aug; 92(2):98-102. PubMed ID: 31198170 [No Abstract] [Full Text] [Related]
6. Genetic mutational testing of Chinese children with familial hematuria with biopsy‑proven FSGS. Li Y; Wang Y; He Q; Dang X; Cao Y; Wu X; Mo S; He X; Yi Z Mol Med Rep; 2018 Jan; 17(1):1513-1526. PubMed ID: 29138824 [TBL] [Abstract][Full Text] [Related]
7. Refractory focal segmental glomerulosclerosis caused by Alport syndrome detected by genetic testing after three decades. Oda Y; Sawa N; Nozu K; Ubara Y BMJ Case Rep; 2022 Mar; 15(3):. PubMed ID: 35288428 [TBL] [Abstract][Full Text] [Related]
8. Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease. Lin F; Bian F; Zou J; Wu X; Shan J; Lu W; Yao Y; Jiang G; Gale DP BMC Nephrol; 2014 Nov; 15():175. PubMed ID: 25381091 [TBL] [Abstract][Full Text] [Related]
9. Phenotypic heterogeneity in females with X-linked Alport syndrome. Allred SC; Weck KE; Gasim A; Mottl AK Clin Nephrol; 2015 Nov; 84(5):296-300. PubMed ID: 26249550 [TBL] [Abstract][Full Text] [Related]
10. COL4A3 mutation is an independent risk factor for poor prognosis in children with Alport syndrome. Ozdemir G; Gulhan B; Atayar E; Saygılı S; Soylemezoglu O; Ozcakar ZB; Eroglu FK; Candan C; Demir BK; Soylu A; Yüksel S; Alpay H; Agbas A; Duzova A; Hayran M; Ozaltin F; Topaloglu R Pediatr Nephrol; 2020 Oct; 35(10):1941-1952. PubMed ID: 32394188 [TBL] [Abstract][Full Text] [Related]
11. Alport syndrome. Molecular genetic aspects. Hertz JM Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970 [TBL] [Abstract][Full Text] [Related]
12. Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis. Gast C; Pengelly RJ; Lyon M; Bunyan DJ; Seaby EG; Graham N; Venkat-Raman G; Ennis S Nephrol Dial Transplant; 2016 Jun; 31(6):961-70. PubMed ID: 26346198 [TBL] [Abstract][Full Text] [Related]
13. A novel frameshift mutation of COL4A5 in a Chinese family with presumed IgA nephropathy and chronic glomerulonephritis. Zhu Q; Zhou C; Wang J J Clin Lab Anal; 2020 Dec; 34(12):e23558. PubMed ID: 32893410 [TBL] [Abstract][Full Text] [Related]
14. A novel heterozygous variant of the COL4A4 gene in a Chinese family with hematuria and proteinuria leads to focal segmental glomerulosclerosis and chronic kidney disease. Fan LL; Liu L; Luo FM; Du R; Wang CY; Dong Y; Liu JS Mol Genet Genomic Med; 2020 Dec; 8(12):e1545. PubMed ID: 33159707 [TBL] [Abstract][Full Text] [Related]
15. X-Linked Glomerulopathy Due to COL4A5 Founder Variant. Barua M; John R; Stella L; Li W; Roslin NM; Sharif B; Hack S; Lajoie-Starkell G; Schwaderer AL; Becknell B; Wuttke M; Köttgen A; Cattran D; Paterson AD; Pei Y Am J Kidney Dis; 2018 Mar; 71(3):441-445. PubMed ID: 29198386 [TBL] [Abstract][Full Text] [Related]
16. COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family. Ramzan K; Imtiaz F; Taibah K; Alnufiee S; Akhtar M; Al-Hazzaa SA; Al-Owain M Int J Pediatr Otorhinolaryngol; 2014 Mar; 78(3):427-32. PubMed ID: 24398087 [TBL] [Abstract][Full Text] [Related]
17. A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family. Chen S; Xu G; Zhao Z; Du J; Shen B; Li C BMC Med Genomics; 2024 Apr; 17(1):108. PubMed ID: 38671472 [TBL] [Abstract][Full Text] [Related]