120 related articles for article (PubMed ID: 31966729)
1. Long-term follow-up of an Alport syndrome patient with a novel mutation of
Xiang R; Li JJ; Liu JS; Fan LL; Li L; Xia K; Zhang H
Int J Clin Exp Pathol; 2017; 10(8):8709-8714. PubMed ID: 31966729
[TBL] [Abstract][Full Text] [Related]
2. Novel heterozygous mutation in
Du R; Liu J; Hu Y; Peng S; Fan L; Xiang R; Huang H
Front Genet; 2022; 13():899006. PubMed ID: 36159970
[No Abstract] [Full Text] [Related]
3. Aberrant Splicing of
Li Y; Yan X; Luo Z; Fu X; Li Z; Xu Q; Chen J; Yang J; Lu D
Int J Nephrol Renovasc Dis; 2024; 17():167-174. PubMed ID: 38855711
[TBL] [Abstract][Full Text] [Related]
4. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
5. Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families.
Nabais Sá MJ; Sampaio S; Oliveira A; Alves S; Moura CP; Silva SE; Castro R; Araújo JA; Rodrigues M; Neves F; Seabra J; Soares C; Gaspar MA; Tavares I; Freitas L; Sousa TC; Henriques AC; Costa FT; Morgado E; Sousa FT; Sousa JP; da Costa AG; Filipe R; Garrido J; Montalban J; Ponce P; Alves R; Faria B; Carvalho MF; Pestana M; Carvalho F; Oliveira JP
Clin Genet; 2015 Nov; 88(5):462-7. PubMed ID: 25307721
[TBL] [Abstract][Full Text] [Related]
6. A deep intronic splice variant of the
Qian P; Bao Y; Huang HM; Suo L; Han Y; Li ZJ; Zhang M
Front Pediatr; 2022; 10():1009188. PubMed ID: 36714647
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
Savige J; Storey H; Il Cheong H; Gyung Kang H; Park E; Hilbert P; Persikov A; Torres-Fernandez C; Ars E; Torra R; Hertz JM; Thomassen M; Shagam L; Wang D; Wang Y; Flinter F; Nagel M
PLoS One; 2016; 11(9):e0161802. PubMed ID: 27627812
[TBL] [Abstract][Full Text] [Related]
9. Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4).
Jefferson JA; Lemmink HH; Hughes AE; Hill CM; Smeets HJ; Doherty CC; Maxwell AP
Nephrol Dial Transplant; 1997 Aug; 12(8):1595-9. PubMed ID: 9269635
[TBL] [Abstract][Full Text] [Related]
10. Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome.
Beicht S; Strobl-Wildemann G; Rath S; Wachter O; Alberer M; Kaminsky E; Weber LT; Hinrichsen T; Klein HG; Hoefele J
Gene; 2013 Sep; 526(2):474-7. PubMed ID: 23732293
[TBL] [Abstract][Full Text] [Related]
11. A pedigree with
Zou H; Zhu L; Xu R; Shi S; Wang S; Zhou F; Zhang H; Zhao M
Am J Transl Res; 2022; 14(8):5746-5753. PubMed ID: 36105030
[TBL] [Abstract][Full Text] [Related]
12. The Hypomorphic Variant p.(Gly624Asp) in
Macheroux EP; Braunisch MC; Pucci Pegler S; Satanovskij R; Riedhammer KM; Günthner R; Gross O; Nagel M; Renders L; Hoefele J
Front Pediatr; 2019; 7():485. PubMed ID: 31850286
[No Abstract] [Full Text] [Related]
13. Identification of four novel mutations in the
Zhao X; Shang X; Chen C; Liu L; Wang C; Zhao G; Zhang J; Kong X
Biomed Rep; 2020 Aug; 13(2):4. PubMed ID: 32607233
[TBL] [Abstract][Full Text] [Related]
14. Linkage analysis and a novel COL4A5 mutation in a large Turkish family with Alport syndrome.
Tug E; Percin FE; Pala E; Baysoy G
Genet Couns; 2011; 22(2):143-53. PubMed ID: 21848006
[TBL] [Abstract][Full Text] [Related]
15. A Novel
Gao E; Yang X; Si N; Liu K; Wang JQ; Liu Z
Kidney Dis (Basel); 2020 Jan; 6(1):43-49. PubMed ID: 32021873
[TBL] [Abstract][Full Text] [Related]
16. Novel deletion mutation in a Chinese family with X-linked alport syndrome.
Li Y; He Q; Wang Y; Wang Y; Dang X; Wu X; Li X; Shuai L; Yi Z
Int J Clin Exp Pathol; 2018; 11(9):4657-4665. PubMed ID: 31949866
[TBL] [Abstract][Full Text] [Related]
17. COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome.
Buzza M; Wang YY; Dagher H; Babon JJ; Cotton RG; Powell H; Dowling J; Savige J
Kidney Int; 2001 Aug; 60(2):480-3. PubMed ID: 11473630
[TBL] [Abstract][Full Text] [Related]
18. [Features of clinical phenotype and genotype in Alport syndrome: a monocentric study].
Sun L; Kuang X; Hao S; Wang P; Niu X; Zhu G; Zhou J; Huang W
Zhonghua Er Ke Za Zhi; 2015 Feb; 53(2):114-8. PubMed ID: 25876686
[TBL] [Abstract][Full Text] [Related]
19. The same heterozygous
Zhu F; Li Y; Wang Y; Yao Y; Zeng R
Front Genet; 2023; 14():1180149. PubMed ID: 37323683
[No Abstract] [Full Text] [Related]
20. Determination of the pathogenicity of a novel COL4A5 missense variant by CRISPR-Cas9 in kidney podocytes.
Sun L; Hao S; Kuang XY; Wu Y; Huang WY
Am J Transl Res; 2021; 13(8):9086-9094. PubMed ID: 34540022
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
