239 related articles for article (PubMed ID: 31490752)
1. A COL4A5 Missense Variant in a Han-Chinese Family with X-linked Alport Syndrome.
Wu Y; Guo Y; Yuan J; Xu H; Chen Y; Zhang H; Yuan M; Deng H; Yuan L
Curr Mol Med; 2019; 19(10):758-765. PubMed ID: 31490752
[TBL] [Abstract][Full Text] [Related]
2. Novel Mutations of
Gong WY; Liu FN; Yin LH; Zhang J
Biomed Res Int; 2021; 2021():6664973. PubMed ID: 33748275
[TBL] [Abstract][Full Text] [Related]
3. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
4. Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.
Guo Y; Yuan J; Liang H; Xiao J; Xu H; Yuan L; Gao K; Wu B; Tang Y; Li X; Deng H
Mol Biol Rep; 2014 Jun; 41(6):3631-5. PubMed ID: 24522658
[TBL] [Abstract][Full Text] [Related]
5. [Genetic and clinical analysis of a pedigree affected with X-linked dominant Alport syndrome due to a novel variant of COL4A5 gene].
Ma Q; Wu J; Che L; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 May; 38(5):461-464. PubMed ID: 33974256
[TBL] [Abstract][Full Text] [Related]
6. COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?
Voskarides K; Papagregoriou G; Hadjipanagi D; Petrou I; Savva I; Elia A; Athanasiou Y; Pastelli A; Kkolou M; Hadjigavriel M; Stavrou C; Pierides A; Deltas C
BMC Nephrol; 2018 May; 19(1):114. PubMed ID: 29764427
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series.
Wu J; Zhang J; Liu L; Zhang B; Yamamura T; Nozu K; Matsuo M; Zhao J
BMC Nephrol; 2021 Nov; 22(1):380. PubMed ID: 34774011
[TBL] [Abstract][Full Text] [Related]
9. A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing.
Xiu X; Yuan J; Deng X; Xiao J; Xu H; Zeng Z; Guan L; Xu F; Deng S
Biomed Res Int; 2014; 2014():186048. PubMed ID: 25110662
[TBL] [Abstract][Full Text] [Related]
10. Autosomal dominant Alport syndrome due to a COL4A4 mutation with an additional ESPN variant detected by whole-exome analysis.
Izumi Y; Hamaguchi A; Miura R; Nakagawa T; Nakagawa M; Saida K; Miyake N; Nagayoshi Y; Kakizoe Y; Miyoshi T; Kohda Y; Misumi Y; Matsumoto N; Ando Y; Mukoyama M
CEN Case Rep; 2020 Feb; 9(1):59-64. PubMed ID: 31677115
[TBL] [Abstract][Full Text] [Related]
11. Effect of heterozygous pathogenic COL4A3 or COL4A4 variants on patients with X-linked Alport syndrome.
Zhang Y; Ding J; Zhang H; Yao Y; Xiao H; Wang S; Wang F
Mol Genet Genomic Med; 2019 May; 7(5):e647. PubMed ID: 30883042
[TBL] [Abstract][Full Text] [Related]
12. Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families.
Zhang Y; Ding J; Wang S; Zhang H; Zhong X; Liu X; Xu K; Wang F
Eur J Hum Genet; 2020 Feb; 28(2):244-252. PubMed ID: 31576025
[TBL] [Abstract][Full Text] [Related]
13. Identification of a novel COL4A5 mutation in the proband initially diagnosed as IgAN from a Chinese family with X-linked Alport syndrome.
Li Z; Zhu P; Huang H; Pan Y; Han P; Cui H; Kang Z; Xun M; Zhang Y; Liu S; Wang J; Wu J
Sci China Life Sci; 2019 Dec; 62(12):1572-1579. PubMed ID: 31209800
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. [Identification of a novel variant of COL4A5 gene in a pedigree affected with Alport syndrome].
Liu X; Gao M; Zou Y; Wang L; Kang R; Xu P; Niu Y; Huang S; Li J; Xie H; Gao Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Aug; 37(8):807-810. PubMed ID: 32761583
[TBL] [Abstract][Full Text] [Related]
16. A case with somatic and germline mosaicism in COL4A5 detected by multiplex ligation-dependent probe amplification in X-linked Alport syndrome.
Aoto Y; Kise T; Nakanishi K; Nagano C; Horinouchi T; Yamamura T; Ishiko S; Sakakibara N; Shima Y; Morisada N; Iijima K; Nozu K
CEN Case Rep; 2020 Nov; 9(4):431-436. PubMed ID: 32621070
[TBL] [Abstract][Full Text] [Related]
17. Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome.
Liang L; Wu H; Cai Z; Zhao J
BMC Med Genomics; 2023 Aug; 16(1):192. PubMed ID: 37596645
[TBL] [Abstract][Full Text] [Related]
18. Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome.
Malone AF; Funk SD; Alhamad T; Miner JH
Pediatr Nephrol; 2017 Jun; 32(6):997-1003. PubMed ID: 28013382
[TBL] [Abstract][Full Text] [Related]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
