182 related articles for article (PubMed ID: 18846628)
1. Gene symbol: COl4A5. Disease: Alport Syndrome.
Savige J
Hum Genet; 2008 Oct; 124(3):302. PubMed ID: 18846628
[No Abstract] [Full Text] [Related]
2. Gene symbol: COL4A5. Disease: Alport Syndrome.
Savige J; Tan R; Colville D; Wang Y; Parkin JD; Mathew N; Savige J
Hum Genet; 2008 Oct; 124(3):301. PubMed ID: 18846626
[No Abstract] [Full Text] [Related]
3. Gene symbol: COl4A5. Disease: Alport Syndrome.
Savige J; Tan R; Colville D; Wang Y; Rigby L; Oarkin JD; Mathew N; Savige J
Hum Genet; 2008 Oct; 124(3):301-2. PubMed ID: 18846627
[No Abstract] [Full Text] [Related]
4. Gene symbol: COL4A5. Disease: Alport syndrome.
Neri TM; Sebastio P
Hum Genet; 2005 Dec; 118(3-4):543. PubMed ID: 16521290
[No Abstract] [Full Text] [Related]
5. Novel human pathological mutations. Gene symbol: COL4A5. Disease: Alport syndrome.
Minucci A; Capoluongo E; Concolino P; Concetta S; Zuppi C; Giardina B
Hum Genet; 2007 Nov; 122(3-4):414. PubMed ID: 18350645
[No Abstract] [Full Text] [Related]
6. Novel human pathological mutations. Gene symbol: COL4A5. Disease: Alport syndrome.
Ellison J
Hum Genet; 2009 Aug; 126(2):331. PubMed ID: 19693995
[No Abstract] [Full Text] [Related]
7. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. [Detection of a novel mutation in COL4A5 gene from a Chinese family with X-linked alport syndrome].
Peng CL; Liang H; Z ou QL; Wang J; Liu CS; Zhang XF; Chen J; Hu SN
Yi Chuan Xue Bao; 2004 Nov; 31(11):1190-5. PubMed ID: 15651669
[TBL] [Abstract][Full Text] [Related]
10. The Alport syndrome COL4A5 variant database.
Crockett DK; Pont-Kingdon G; Gedge F; Sumner K; Seamons R; Lyon E
Hum Mutat; 2010 Aug; 31(8):E1652-7. PubMed ID: 20574986
[TBL] [Abstract][Full Text] [Related]
11. Tissue-specific distribution of an alternatively spliced COL4A5 isoform and non-random X chromosome inactivation reflect phenotypic variation in heterozygous X-linked Alport syndrome.
Shimizu Y; Nagata M; Usui J; Hirayama K; Yoh K; Yamagata K; Kobayashi M; Koyama A
Nephrol Dial Transplant; 2006 Jun; 21(6):1582-7. PubMed ID: 16517570
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Deletion mapping in Alport syndrome and Alport syndrome-diffuse leiomyomatosis reveals potential mechanisms of visceral smooth muscle overgrowth.
Thielen BK; Barker DF; Nelson RD; Zhou J; Kren SM; Segal Y
Hum Mutat; 2003 Nov; 22(5):419. PubMed ID: 14517961
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Atypical Alport syndrome associated with a novel COL4A5 mutation.
Höpker K; Liebau MC; Friederichsohn C; Waldherr R; Benzing T
Clin Nephrol; 2009 Mar; 71(3):321-5. PubMed ID: 19281745
[TBL] [Abstract][Full Text] [Related]
18. Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay.
Horinouchi T; Nozu K; Yamamura T; Minamikawa S; Nagano C; Sakakibara N; Nakanishi K; Shima Y; Morisada N; Ishiko S; Aoto Y; Nagase H; Takeda H; Rossanti R; Kaito H; Matsuo M; Iijima K
Sci Rep; 2019 Sep; 9(1):12696. PubMed ID: 31481700
[TBL] [Abstract][Full Text] [Related]
19. [Collagen alpha5 and alpha2 (IV) chain coexpression: The procedure of choice to diagnose Alport syndrome from skin biopsies].
Patey-Mariaud de Serre N; Noël LH
Ann Pathol; 2008 Jun; 28(3):182-6. PubMed ID: 18706356
[TBL] [Abstract][Full Text] [Related]
20. Genotype-phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5.
Tsiakkis D; Pieri M; Koupepidou P; Demosthenous P; Panayidou K; Deltas C
Clin Genet; 2012 Sep; 82(3):297-9. PubMed ID: 22335431
[No Abstract] [Full Text] [Related]
[Next] [New Search]