494 related articles for article (PubMed ID: 25307721)
21. Female X-linked Alport syndrome with somatic mosaicism.
Yokota K; Nozu K; Minamikawa S; Yamamura T; Nakanishi K; Kaneda H; Hamada R; Nozu Y; Shono A; Ninchoji T; Morisada N; Ishimori S; Fujimura J; Horinouchi T; Kaito H; Nakanishi K; Morioka I; Taniguchi-Ikeda M; Iijima K
Clin Exp Nephrol; 2017 Oct; 21(5):877-883. PubMed ID: 27796712
[TBL] [Abstract][Full Text] [Related]
22. Twenty-one novel mutations identified in the COL4A5 gene in Chinese patients with X-linked Alport's syndrome confirmed by skin biopsy.
Ma J; Pan X; Wang Z; Wang Y; Feng X; Ren H; Zhang W; Chen X; Wang W; Chen N
Nephrol Dial Transplant; 2011 Dec; 26(12):4003-10. PubMed ID: 21505094
[TBL] [Abstract][Full Text] [Related]
23. Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain.
Hashimura Y; Nozu K; Kaito H; Nakanishi K; Fu XJ; Ohtsubo H; Hashimoto F; Oka M; Ninchoji T; Ishimori S; Morisada N; Matsunoshita N; Kamiyoshi N; Yoshikawa N; Iijima K
Kidney Int; 2014 May; 85(5):1208-13. PubMed ID: 24304881
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.
Hertz JM; Juncker I; Persson U; Matthijs G; Schmidtke J; Petersen MB; Kjeldsen M; Gregersen N
Hum Mutat; 2001 Aug; 18(2):141-8. PubMed ID: 11462238
[TBL] [Abstract][Full Text] [Related]
26. [Alport syndrome: Hereditary nephropathy associated with mutations in genes coding for type IV collagen chains].
Heidet L; Gubler MC
Nephrol Ther; 2016 Dec; 12(7):544-551. PubMed ID: 27816395
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. 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]
29. Improving mutation screening in familial hematuric nephropathies through next generation sequencing.
Morinière V; Dahan K; Hilbert P; Lison M; Lebbah S; Topa A; Bole-Feysot C; Pruvost S; Nitschke P; Plaisier E; Knebelmann B; Macher MA; Noel LH; Gubler MC; Antignac C; Heidet L
J Am Soc Nephrol; 2014 Dec; 25(12):2740-51. PubMed ID: 24854265
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome.
Sá MJ; Fieremans N; de Brouwer AP; Sousa R; e Costa FT; Brito MJ; Carvalho F; Rodrigues M; de Sousa FT; Felgueiras J; Neves F; Carvalho A; Ramos U; Vizcaíno JR; Alves S; Carvalho F; Froyen G; Oliveira JP
J Med Genet; 2013 Nov; 50(11):745-53. PubMed ID: 23958657
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. 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]
34. 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]
35. 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]
36. Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.
Marcocci E; Uliana V; Bruttini M; Artuso R; Silengo MC; Zerial M; Bergesio F; Amoroso A; Savoldi S; Pennesi M; Giachino D; Rombolà G; Fogazzi GB; Rosatelli C; Martinhago CD; Carmellini M; Mancini R; Di Costanzo G; Longo I; Renieri A; Mari F
Nephrol Dial Transplant; 2009 May; 24(5):1464-71. PubMed ID: 19129241
[TBL] [Abstract][Full Text] [Related]
37. Correlation between mRNA expression level of the mutant COL4A5 gene and phenotypes of XLAS females.
Wang Y; Zhang H; Ding J; Wang F
Exp Biol Med (Maywood); 2007 May; 232(5):638-42. PubMed ID: 17463160
[TBL] [Abstract][Full Text] [Related]
38. X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.
Demosthenous P; Voskarides K; Stylianou K; Hadjigavriel M; Arsali M; Patsias C; Georgaki E; Zirogiannis P; Stavrou C; Daphnis E; Pierides A; Deltas C;
Clin Genet; 2012 Mar; 81(3):240-8. PubMed ID: 21332469
[TBL] [Abstract][Full Text] [Related]
39. [Application of multiplex ligation-dependent probe amplification in gene diagnosis of X-linked Alport syndrome].
Zhang YQ; Zhao D; Yu LX; Ding J; Wang F
Zhonghua Yi Xue Za Zhi; 2012 Oct; 92(40):2825-9. PubMed ID: 23290210
[TBL] [Abstract][Full Text] [Related]
40.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]