337 related articles for article (PubMed ID: 33369211)
1. Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype study.
Uliana V; Sebastio P; Riva M; Carli D; Ruberto C; Bianchi L; Graziano C; Capelli I; Faletra F; Pillon R; Mattina T; Sensi A; Bonatti F; Percesepe A
Mol Genet Genomic Med; 2021 Feb; 9(2):e1576. PubMed ID: 33369211
[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. 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]
4. 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]
5. Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.
Weber S; Strasser K; Rath S; Kittke A; Beicht S; Alberer M; Lange-Sperandio B; Hoyer PF; Benz MR; Ponsel S; Weber LT; Klein HG; Hoefele J
Pediatr Nephrol; 2016 Jun; 31(6):941-55. PubMed ID: 26809805
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria.
Slajpah M; Gorinsek B; Berginc G; Vizjak A; Ferluga D; Hvala A; Meglic A; Jaksa I; Furlan P; Gregoric A; Kaplan-Pavlovcic S; Ravnik-Glavac M; Glavac D
Kidney Int; 2007 Jun; 71(12):1287-95. PubMed ID: 17396119
[TBL] [Abstract][Full Text] [Related]
8. Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.
Nabais Sá MJ; Storey H; Flinter F; Nagel M; Sampaio S; Castro R; Araújo JA; Gaspar MA; Soares C; Oliveira A; Henriques AC; da Costa AG; Abreu CP; Ponce P; Alves R; Pinho L; Silva SE; de Moura CP; Mendonça L; Carvalho F; Pestana M; Alves S; Carvalho F; Oliveira JP
Clin Genet; 2015 Nov; 88(5):456-61. PubMed ID: 25307543
[TBL] [Abstract][Full Text] [Related]
9. Collagen type IV nephropathy: genetic heterogeneity examinations in affected Hungarian families.
Endreffy E; Ondrik Z; Iványi B; Maróti Z; Bereczki C; Haszon I; Györke Z; Worum E; Németh K; Rikker C; Ökrös Z; Túri S
Mol Cell Probes; 2011 Feb; 25(1):28-34. PubMed ID: 20951199
[TBL] [Abstract][Full Text] [Related]
10. Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.
Longo I; Scala E; Mari F; Caselli R; Pescucci C; Mencarelli MA; Speciale C; Giani M; Bresin E; Caringella DA; Borochowitz ZU; Siriwardena K; Winship I; Renieri A; Meloni I
Nephrol Dial Transplant; 2006 Mar; 21(3):665-71. PubMed ID: 16338941
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Familial hematuria: A review.
Plevová P; Gut J; Janda J
Medicina (Kaunas); 2017; 53(1):1-10. PubMed ID: 28236514
[TBL] [Abstract][Full Text] [Related]
13. Heterozygous Urinary Abnormality-Causing Variants of
Horinouchi T; Yamamura T; Nagano C; Sakakibara N; Ishiko S; Aoto Y; Rossanti R; Nakanishi K; Shima Y; Morisada N; Iijima K; Nozu K
Kidney360; 2020 Sep; 1(9):936-942. PubMed ID: 35369551
[TBL] [Abstract][Full Text] [Related]
14. Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases.
Tazón Vega B; Badenas C; Ars E; Lens X; Milà M; Darnell A; Torra R
Am J Kidney Dis; 2003 Nov; 42(5):952-9. PubMed ID: 14582039
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.
Papazachariou L; Papagregoriou G; Hadjipanagi D; Demosthenous P; Voskarides K; Koutsofti C; Stylianou K; Ioannou P; Xydakis D; Tzanakis I; Papadaki A; Kallivretakis N; Nikolakakis N; Perysinaki G; Gale DP; Diamantopoulos A; Goudas P; Goumenos D; Soloukides A; Boletis I; Melexopoulou C; Georgaki E; Frysira E; Komianou F; Grekas D; Paliouras C; Alivanis P; Vergoulas G; Pierides A; Daphnis E; Deltas C
Clin Genet; 2017 Nov; 92(5):517-527. PubMed ID: 28632965
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. Novel heterozygous COL4A3 mutation in a family with late-onset ESRD.
Hoefele J; Lange-Sperandio B; Ruessmann D; Glöckner-Pagel J; Alberer M; Benz MR; Nagel M; Weber LT
Pediatr Nephrol; 2010 Aug; 25(8):1539-42. PubMed ID: 20177710
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
