21875 related articles for article (PubMed ID: 19728970)
1. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
Jensen HK
Dan Med Bull; 2002 Nov; 49(4):318-45. PubMed ID: 12553167
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. 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]
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. 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]
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. 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]
12. A novel Cys1638Tyr NC1 domain substitution in alpha5(IV) collagen causes Alport syndrome with late onset renal failure without hearing loss or eye abnormalities.
Wilson JC; Yoon HS; Walker RJ; Eccles MR
Nephrol Dial Transplant; 2007 May; 22(5):1338-46. PubMed ID: 17277342
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.
Tazón-Vega B; Ars E; Burset M; Santín S; Ruíz P; Fernández-Llama P; Ballarín J; Torra R
Am J Kidney Dis; 2007 Aug; 50(2):257.e1-14. PubMed ID: 17660027
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Prophylactic Oophorectomy: Reducing the U.S. Death Rate from Epithelial Ovarian Cancer. A Continuing Debate.
Piver MS
Oncologist; 1996; 1(5):326-330. PubMed ID: 10388011
[TBL] [Abstract][Full Text] [Related]
17. Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.
Antignac C; Knebelmann B; Drouot L; Gros F; Deschênes G; Hors-Cayla MC; Zhou J; Tryggvason K; Grünfeld JP; Broyer M
J Clin Invest; 1994 Mar; 93(3):1195-207. PubMed ID: 8132760
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene.
Hertz JM; Persson U; Juncker I; Segelmark M
Hum Genet; 2005 Oct; 118(1):23-8. PubMed ID: 16133187
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
