254 related articles for article (PubMed ID: 10094548)
1. Detection of mutations in COL4A5 in patients with Alport syndrome.
Plant KE; Green PM; Vetrie D; Flinter FA
Hum Mutat; 1999; 13(2):124-32. PubMed ID: 10094548
[TBL] [Abstract][Full Text] [Related]
2. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.
Martin P; Heiskari N; Pajari H; Grönhagen-Riska C; Kääriäinen H; Koskimies O; Tryggvason K
Hum Mutat; 2000 Jun; 15(6):579. PubMed ID: 10862091
[TBL] [Abstract][Full Text] [Related]
5. A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome.
King K; Flinter FA; Green PM
Hum Mutat; 2006 Oct; 27(10):1061. PubMed ID: 16941480
[TBL] [Abstract][Full Text] [Related]
6. Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients.
Boye E; Flinter F; Zhou J; Tryggvason K; Bobrow M; Harris A
Hum Mutat; 1995; 5(3):197-204. PubMed ID: 7599631
[TBL] [Abstract][Full Text] [Related]
7. Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome.
Dagher H; Yan Wang Y; Fassett R; Savige J
Hum Mutat; 2002 Oct; 20(4):321-2. PubMed ID: 12325029
[TBL] [Abstract][Full Text] [Related]
8. Detection of COL4A5 gene mutations in Chinese patients with Alport's syndrome.
Pan X; Yan J; Ren H; Zhang W; Shi H; Yu H; Wang C; Hao C; Chen X; Chen N
Nephrol Dial Transplant; 2004 May; 19(5):1123-8. PubMed ID: 14993485
[TBL] [Abstract][Full Text] [Related]
9. Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.
Knebelmann B; Breillat C; Forestier L; Arrondel C; Jacassier D; Giatras I; Drouot L; Deschênes G; Grünfeld JP; Broyer M; Gubler MC; Antignac C
Am J Hum Genet; 1996 Dec; 59(6):1221-32. PubMed ID: 8940267
[TBL] [Abstract][Full Text] [Related]
10. Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele.
Guo C; Van Damme B; Vanrenterghem Y; Devriendt K; Cassiman JJ; Marynen P
J Clin Invest; 1995 Apr; 95(4):1832-7. PubMed ID: 7706490
[TBL] [Abstract][Full Text] [Related]
11. MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.
Hertz JM; Juncker I; Marcussen N
Clin Genet; 2008 Dec; 74(6):522-30. PubMed ID: 18616531
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.
Inoue Y; Nishio H; Shirakawa T; Nakanishi K; Nakamura H; Sumino K; Nishiyama K; Iijima K; Yoshikawa N
Am J Kidney Dis; 1999 Nov; 34(5):854-62. PubMed ID: 10561141
[TBL] [Abstract][Full Text] [Related]
14. X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.
Renieri A; Bruttini M; Galli L; Zanelli P; Neri T; Rossetti S; Turco A; Heiskari N; Zhou J; Gusmano R; Massella L; Banfi G; Scolari F; Sessa A; Rizzoni G; Tryggvason K; Pignatti PF; Savi M; Ballabio A; De Marchi M
Am J Hum Genet; 1996 Jun; 58(6):1192-204. PubMed ID: 8651296
[TBL] [Abstract][Full Text] [Related]
15. The clinical spectrum of type IV collagen mutations.
Lemmink HH; Schröder CH; Monnens LA; Smeets HJ
Hum Mutat; 1997; 9(6):477-99. PubMed ID: 9195222
[TBL] [Abstract][Full Text] [Related]
16. Identification of six novel WASP gene mutations in patients suffering from Wiskott-Aldrich syndrome.
Brooimans RA; van den Berg AJ; Tamminga RY; Revesz T; Wulffraat NM; Zegers BJ
Hum Mutat; 2000 Apr; 15(4):386-7. PubMed ID: 10737997
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.
Nagel M; Nagorka S; Gross O
Hum Mutat; 2005 Jul; 26(1):60. PubMed ID: 15954103
[TBL] [Abstract][Full Text] [Related]
19. A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5.
Peissel B; Rossetti S; Renieri A; Galli L; De Marchi M; Battini G; Meroni M; Sessa A; Schiavano S; Pignatti PF
Hum Mutat; 1994; 3(4):386-90. PubMed ID: 8081393
[No Abstract] [Full Text] [Related]
20. Clinical and genetic mapping of X chromosome in the X-linked dominant inherited Alport's syndrome.
Dai Y; Huang Y; He X; Wang S; Huang R; Tang M; Hu C
Saudi J Kidney Dis Transpl; 2008 Sep; 19(5):767-74. PubMed ID: 18711293
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
