254 related articles for article (PubMed ID: 35675912)
1. Digenic Alport Syndrome.
Savige J; Renieri A; Ars E; Daga S; Pinto AM; Rothe H; Gale DP; Aksenova M; Cerkauskaite A; Bielska O; Lipska-Zietkiewicz B; Gibson JT
Clin J Am Soc Nephrol; 2022 Nov; 17(11):1697-1706. PubMed ID: 35675912
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Possible Digenic Disease in a Caucasian Family with COL4A3 and COL4A5 Mutations.
Choi M; Anistan YM; Eckardt KU; Gollasch M; Nickel P
Nephron; 2019; 141(3):213-218. PubMed ID: 30661074
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Prevalence Estimates of Predicted Pathogenic
Gibson J; Fieldhouse R; Chan MMY; Sadeghi-Alavijeh O; Burnett L; Izzi V; Persikov AV; Gale DP; Storey H; Savige J;
J Am Soc Nephrol; 2021 Sep; 32(9):2273-2290. PubMed ID: 34400539
[TBL] [Abstract][Full Text] [Related]
6. The COL4A3 and COL4A4 Digenic Mutations in cis Result in Benign Familial Hematuria in a Large Chinese Family.
Li A; Cui YX; Lv X; Liu JH; Gao EZ; Wei XX; Xia XY; Gao CL; Liu FX; Xia ZK; Asan ; Liu ZH; Li XJ
Cytogenet Genome Res; 2018; 154(3):132-136. PubMed ID: 29742505
[TBL] [Abstract][Full Text] [Related]
7. Identification of 27 Novel Variants in Genes
Cerkauskaite A; Savige J; Janonyte K; Jeremiciute I; Miglinas M; Kazenaite E; Laurinavicius A; Strupaite-Sileikiene R; Vainutiene V; Burnyte B; Jankauskiene A; Rolfs A; Bauer P; Schröder S; Cerkauskiene R
Front Med (Lausanne); 2022; 9():859521. PubMed ID: 35419377
[TBL] [Abstract][Full Text] [Related]
8. Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene.
Pescucci C; Mari F; Longo I; Vogiatzi P; Caselli R; Scala E; Abaterusso C; Gusmano R; Seri M; Miglietti N; Bresin E; Renieri A
Kidney Int; 2004 May; 65(5):1598-603. PubMed ID: 15086897
[TBL] [Abstract][Full Text] [Related]
9. Evidence of digenic inheritance in Alport syndrome.
Mencarelli MA; Heidet L; Storey H; van Geel M; Knebelmann B; Fallerini C; Miglietti N; Antonucci MF; Cetta F; Sayer JA; van den Wijngaard A; Yau S; Mari F; Bruttini M; Ariani F; Dahan K; Smeets B; Antignac C; Flinter F; Renieri A
J Med Genet; 2015 Mar; 52(3):163-74. PubMed ID: 25575550
[TBL] [Abstract][Full Text] [Related]
10. Guidelines for Genetic Testing and Management of Alport Syndrome.
Savige J; Lipska-Zietkiewicz BS; Watson E; Hertz JM; Deltas C; Mari F; Hilbert P; Plevova P; Byers P; Cerkauskaite A; Gregory M; Cerkauskiene R; Ljubanovic DG; Becherucci F; Errichiello C; Massella L; Aiello V; Lennon R; Hopkinson L; Koziell A; Lungu A; Rothe HM; Hoefele J; Zacchia M; Martic TN; Gupta A; van Eerde A; Gear S; Landini S; Palazzo V; Al-Rabadi L; Claes K; Corveleyn A; Van Hoof E; van Geel M; Williams M; Ashton E; Belge H; Ars E; Bierzynska A; Gangemi C; Renieri A; Storey H; Flinter F
Clin J Am Soc Nephrol; 2022 Jan; 17(1):143-154. PubMed ID: 34930753
[TBL] [Abstract][Full Text] [Related]
11. Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique.
Zhao X; Chen C; Wei Y; Zhao G; Liu L; Wang C; Zhang J; Kong X
Mol Genet Genomic Med; 2019 Jun; 7(6):e653. PubMed ID: 30968591
[TBL] [Abstract][Full Text] [Related]
12. Pathogenic Variants in the Genes Affected in Alport Syndrome (COL4A3-COL4A5) and Their Association With Other Kidney Conditions: A Review.
Savige J; Harraka P
Am J Kidney Dis; 2021 Dec; 78(6):857-864. PubMed ID: 34245817
[TBL] [Abstract][Full Text] [Related]
13. Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.
Gibson JT; Huang M; Shenelli Croos Dabrera M; Shukla K; Rothe H; Hilbert P; Deltas C; Storey H; Lipska-Ziętkiewicz BS; Chan MMY; Sadeghi-Alavijeh O; Gale DP; ; Cerkauskaite A; Savige J
Sci Rep; 2022 Feb; 12(1):2722. PubMed ID: 35177655
[TBL] [Abstract][Full Text] [Related]
14. COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.
Longo I; Porcedda P; Mari F; Giachino D; Meloni I; Deplano C; Brusco A; Bosio M; Massella L; Lavoratti G; Roccatello D; Frascá G; Mazzucco G; Muda AO; Conti M; Fasciolo F; Arrondel C; Heidet L; Renieri A; De Marchi M
Kidney Int; 2002 Jun; 61(6):1947-56. PubMed ID: 12028435
[TBL] [Abstract][Full Text] [Related]
15. Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
Furlano M; Martínez V; Pybus M; Arce Y; Crespí J; Venegas MDP; Bullich G; Domingo A; Ayasreh N; Benito S; Lorente L; Ruíz P; Gonzalez VL; Arlandis R; Cabello E; Torres F; Guirado L; Ars E; Torra R
Am J Kidney Dis; 2021 Oct; 78(4):560-570.e1. PubMed ID: 33838161
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.
Liu JH; Wei XX; Li A; Cui YX; Xia XY; Qin WS; Zhang MC; Gao EZ; Sun J; Gao CL; Liu FX; Wu QY; Li WW; Asan ; Liu ZH; Li XJ
PLoS One; 2017; 12(5):e0177685. PubMed ID: 28542346
[TBL] [Abstract][Full Text] [Related]
18. Endothelial cell-specific collagen type IV-α
Funk SD; Bayer RH; Miner JH
Am J Physiol Renal Physiol; 2019 May; 316(5):F830-F837. PubMed ID: 30724107
[TBL] [Abstract][Full Text] [Related]
19. Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene.
Cervera-Acedo C; Coloma A; Huarte-Loza E; Sierra-Carpio M; Domínguez-Garrido E
BMC Nephrol; 2017 Oct; 18(1):325. PubMed ID: 29089023
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]