| 1 | ATS1, COL4A5
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| X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.
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| Demosthenous P, Voskarides K, Stylianou K, Hadjigavriel M, Arsali M, Patsias C, Georgaki E, Zirogiannis P, Stavrou C, Daphnis E, Pierides A, Deltas C; Hellenic Nephrogenetics Research Consortium.
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| Clin Genet 81(3):240-8. doi: 10.1111/j.1399-0004.2011.01647.x. Epub 2011 Mar 13.
2012
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| 2 | ACSL4, AMME, ATS1
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| Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3.
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| Rodriguez JD, Bhat SS, Meloni I, Ladd S, Leslie ND, Doyne EO, Renieri A, Dupont BR, Stevenson RE, Schwartz CE, Srivastava AK.
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| Am J Med Genet A 152A(3):713-7.PMID: 20186809 2010
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| 3 | ATS1, COL4A5
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| The Alport syndrome COL4A5 variant database.
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| Crockett DK, Pont-Kingdon G, Gedge F, Sumner K, Seamons R, Lyon E.
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| Hum Mutat 31(8):E1652-7.
2010
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| 4 | ATS1
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| Genotype-phenotype correlation in X-linked Alport syndrome.
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| Bekheirnia MR, Reed B, Gregory MC, McFann K, Shamshirsaz AA, Masoumi A, Schrier RW.
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| J Am Soc Nephrol 21(5):876-83. Epub 2010 Apr 8.
2010
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| 5 | ATS1, COL4A5
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| Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure.
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| Tan R, Colville D, Wang YY, Rigby L, Savige J.
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| Clin J Am Soc Nephrol 5(1):34-8. Epub 2009 Dec 3.
2010
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| 6 | ATS1, COL4A5
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| Atypical Alport syndrome associated with a novel COL4A5 mutation.
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| Höpker K, Liebau MC, Friederichsohn C, Waldherr R, Benzing T.
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| Clin Nephrol 71(3):321-5. Erratum in: Clin Nephrol. 2010 Feb;73(2):172.
2009
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| 7 | ATS1, COL4A5
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| MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.
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| Hertz JM, Juncker I, Marcussen N.
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| Clin Genet 74(6):522-30. Epub 2008 Jun 26.
2008
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| 8 | ATS1, COL4A5
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| Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.
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| Hertz JM, Juncker I, Persson U, Matthijs G, Schmidtke J, Petersen MB, Kjeldsen M, Gregersen N.
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| Hum Mutat 18(2):141-8. 2001
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| 9 | ATS1
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| Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in the COL4A5 gene.
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| Blasi MA, Rinaldi R, Renieri A, Petrucci R, De Bernardo C, Bruttini M, Grammatico P.
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| Am J Ophthalmol 130(1):130-1. 2000
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| 10 | ATS1, ATSDL, COL4A5, COL4A6
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| Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome.
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| Ueki Y, et al.
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| Am J Hum Genet 62 : 253-261. 1998
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| 11 | ATS1, ATS2, ATSDL, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
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| The clinical spectrum of type IV collagen mutations.
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| Lemmink HH, Schroder CH, Monnens LA, Smeets HJ.
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| Hum Mutat 9(6):477-99. Review. 1997
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| 12 | COL4A5, ATS1
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| Substitution of A1498D in noncollagen domain of a5(IV) collagen chain associated with adult-onset X-linked Alport syndrome.
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| Tverskaya S, et al.
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| Hum Mutat 7 : 149-150. 1996
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| 13 | ATS1, COL4A5
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| A mutation causing Alport syndrome with tardive hearing loss is common in the Western United States.
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| Barker DF, et al.
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| Am J Hum Genet 58 : 1157-1165. 1996
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| 14 | ATS1, COL4A5
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| X-linked Alport syndrome : an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.
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| Renieri A, et al.
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| Am J Hum Genet 58 : 1192-1204. 1996
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| 15 | ATS1, COL4A5
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| Identification of 17 mutations in ten exons in the COL4A5 collagen gene, but no mutations found in four exons in COL4A6 : a study of 250 patients with hematuria and suspected of having Alport syndrome.
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| Heiskari N, et al.
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| J Am Soc Nephrol 7 : 702-709. 1996
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| 16 | ATS1, COL4A5
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| Relationship between COL4A5 gene mutation and distribution of type IV collagen in male X-linked Alport syndrome.
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| Naito I, et al.
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| Kidney Int 50 : 304-311. 1996
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| 17 | ATS1, COL4A5
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| Unequal homologous crossing over resulting in duplication of 36 base pairs within exon 47 of the COL4A5 gene in a family with Alport syndrome.
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| HŠmŠlŠinen ER, et al.
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| Hum Mutat 8 : 265-269. 1996
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| 18 | ATS1
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| Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.
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| Knebelmann B, et al.
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| Am J Hum Genet 59 : 1221-1232. 1996
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| 19 | ATS1, COL4A5
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| A single-base mutation in exon 31 converting glycine 852 to arginine in the collagenous domain in an Alport syndrome patient.
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| Kawai S, et al.
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| Nephron 74 : 333-336. 1996
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| 20 | ATS1, COL4A5
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| Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome.
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| Renieri A, et al.
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| Am J Med Genet 59 : 380-385. 1995
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| 21 | ATS1, COL4A5
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| A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome.
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| Turco AE, et al.
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| Clin Genet 48 : 261-263. 1995
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| 22 | ATS1, COL4A5
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| A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome.
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| Hertz JM, et al.
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| Kidney Int 47 : 327-332. 1995
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| 23 | COL4A5, ATS1
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| Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients.
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| Boye E, et al.
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| Hum Mutat 5 : 197-204. 1995
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| 24 | ATS1, COL4A5
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| 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.
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| Guo C, et al.
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| J Clin Invest 95 : 1832-1837. 1995
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| 25 | ATS1, ATSDL, COL4A5, COL4A6
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| Deletions of both alpha5(IV) and alpha6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours.
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| Heidet L, et al.
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| Hum Mol Genet 4 : 99-108. 1995
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| 26 | ATS1, COL4A5
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| Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome.
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| Renieri A, et al.
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| Hum Mol Genet 3 : 201-202. 1994
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| 27 | COL4A5, ATS1
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| Aberrant splicing of the COL4A5 gene in patients with Alport syndrome.
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| Lemmink HH, et al.
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| Hum Mol Genet 3 : 317-322. 1994
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| 28 | ATS1, COL4A5
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| Deletions in the COL4A5 collagen gene in X-linked Alport syndrome.
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| Antignac C, et al.
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| J Clin Invest 93 : 1195-1207. 1994
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| 29 | COL4A5, ATS1, COL4A3
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| COL4A5 gene deletion and production of post-transplant anti-alpha3(IV) collagen alloantibodies in Alport syndrome.
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| Kalluri R, et al.
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| Kidney Int 45 : 721-726. 1994
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| 30 | ATS1, COL4A5
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| A novel frameshift deletion in type IV collagen alpha5 gene in a juvenile-type Alport syndrome patient : an adenine deletion (2940/2943 del A) in exon 34 of COL4A5.
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| Peissel B, et al.
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| Hum Mutat 3 : 386-390. 1994
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| 31 | COL4A5, ATS1
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| A deletion mutation in the 3' end of the alpha5(IV) collagen gene in juvenile-onset Alport syndrome.
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| Saito A, et al.
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| J Am Soc Nephrol 4 : 1649-1653. 1994
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| 32 | ATS1, COL4A5
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| Mutations in the codon for a conserved arginine-1563 in the COL4A5 collagen gene in Alport syndrome.
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| Zhou J, et al.
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| Kidney Int 43 : 722-729. 1993
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| 33 | ATS1, COL4A5
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| COL4A5 splice site mutation and alpha-5(IV) collagen mRNA in Alport syndrome.
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| Netzer KO, et al.
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| Kidney Int 43 : 486-492. 1993
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| 34 | ATS1, COL4A5
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| Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome.
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| Renieri A, et al.
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| Hum Genet 92 : 417-420. 1993
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| 35 | ATS1, COL4A5
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| Identification of a single base insertion in the COL4A5 gene in Alport syndrome.
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| Nakazato H, et al.
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| Kidney Int 44 : 1091-1096. 1993
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| 36 | ATS1, COL4A5
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| Differential splicing of COL4A5 mRNA in kidney and white blood cells : a complex mutation in the COL4A5 gene of an alport patient deletes the NC1 domain.
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| Guo C, et al.
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| Kidney Int 44 : 1316-1321. 1993
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| 37 | COL4A5, ATS1
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| An 8bp deletion in exon 51 of the COL4A5 gene of an Alport syndrome patient.
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| Boye E, et al.
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| Hum Mol Genet 2 : 595-596. 1993
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| 38 | COL4A5, ATS1
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| A splicing mutation in the alpha5(IV) collagen gene of a family with Alport's syndrome.
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| Nomura S, et al.
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| Kidney Int 43 : 1116-1124. 1993
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| 39 | COL4A5, ATS1
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| Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome.
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| Lemmink HH, et al.
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| Genomics 17 : 485-489. 1993
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| 40 | ATS1, COL4A5
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| De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome.
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| Renieri A, et al.
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| Hum Mol Genet 1 : 127-129. 1992
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| 41 | ATS1
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| Mutation in the alpha5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions : detection by denaturing gradient gel electrophoresis of a PCR product.
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| Zhou J, et al.
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| Am J Hum Genet 50 : 1291-1300. 1992
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| 42 | ATS1, COL4A5
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| Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome.
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| Smeets HJM, et al.
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| Kidney Int 42 : 83-88. 1992
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| 43 | COL4A5, ATS1
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| Complete aminoacid sequence of the human alpha5(IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient.
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| Zhou J, et al.
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| J Biol Chem 267 : 12475-12481. 1992
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| 44 | COL4A5, ATS1
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| Substitution of arginine for glycine 325 in the collagen alpha5(IV) chain associated with X-linked Alport syndrome : characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments.
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| Knebelmann B, et al.
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| Am J Hum Genet 51 : 135-142. 1992
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| 45 | ATS1, ATSDL, COL4A5
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| Alport syndrome (AS) and diffuse leiomyomatosis : deletions in the 5' end of the COL4A5 collagen gene.
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| Antignac C, et al.
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| Kidney Int 42 : 1178-1183. 1992
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| 46 | ATS1, COL4A5
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| DNA rearrangements in the alpha5(IV) collagen gene (COL4A5) of individuals with Alport syndrome : further refinement using pulsed-field gel electrophoresis.
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| Vetrie D, et al.
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| Genomics 14 : 624-633. 1992
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| 47 | ATS1
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| Alport syndrome : a genetic study of 31 families.
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| M'Rad R, et al.
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| Hum Genet 90 : 420-426. 1992
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| 48 | ATS1
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| Major rearrangements in the alpha5(IV) collagen gene in three patients with Alport syndrome.
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| Boye E, et al.
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| Genomics 11 : 1125-1132. 1991
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| 49 | ATS1
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| Alport syndrome : linkage to nine X-chromosomal RFLP-markers in fourteen Danish families.
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| Hertz JM, et al.
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| Am J Hum Genet 49S : 343. 1991
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| 50 | ATS1
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| Multipoint linkage analysis in X-linked Alport syndrome.
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| Hertz JM, et al.
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| Hum Genet 88 : 157-161. 1991
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| 51 | ATS1
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| High-density genetic and physical mapping of DNA markers near the X-linked Alport syndrome locus : definition and use of flanking polymorphic markers.
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| Barker DF, et al.
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| Hum Genet 88 : 189-194. 1991
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| 52 | ATS1
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| Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome.
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| Zhou J, et al.
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| Genomics 9 : 10-18. 1991
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| 53 | COL4A5, ATS1
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| Identification of mutations in the COL4A5 collagen gene in Alport syndrome.
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| Barker DF, et al.
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| Science 248 : 1224-1227. 1990
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| 54 | ATS1
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| Gene mapping in Alport families with different basement membrane antigenic phenotypes.
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| Kashtan CE, et al.
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| Kidney Int 38 : 925-930. 1990
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| 55 | COL4A5, ATS1
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| Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome.
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| Hostikka SL, et al.
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| Proc Natl Acad Sci U S A 87 : 1606-1610. 1990
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| 56 | ATS1
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| Localization of the gene for classic Alport syndrome.
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| Flinter FA, et al.
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| Genomics 4 : 335-338. 1989
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| 57 | ATS1
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| Genetic mapping of Alport syndrome (ASLN) with physically and genetically ordered X RFLPs.
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| Barker DF, et al.
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| Am J Hum Genet 45 : A172. 1989
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| 58 | ATS1, DXS94, DXS101
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| Linkage studies in X-linked Alport's syndrome.
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| Szpiro-Tapia S, Bobrie G, Guilloud-Bataille M, Heuertz S, Julier C, Frezal J, Grunfeld JP, Hors-Cayla MC.
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| Hum Genet 81 : 85-87. 1988
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| 59 | ATS1
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| Localization of the gene for X-linked Alport's syndrome.
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| Brunner H, et al.
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| Kidney Int 34 : 507-510. 1988
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| 60 | ATS1
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| Mapping of Alport syndrome to the long arm of the X chromosome.
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| Atkin CL, et al.
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| Am J Hum Genet 42 : 249-255. 1988
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| 61 | ATS1, DXS265
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| Characterization and physical localization of 37 RFLPs for the X chromosome and linkage of two markers to the gene for X-linked Alport syndrome.
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| Dietz-Band J, et al.
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| Am J Hum Genet 43 : A142. 1988
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| 62 | ATS1, DXS3
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| Linkage between Alport syndrome-like hereditary nephritis and X-linkedRFLPs.
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| Menlove L, et al.
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| (HGM8) Cytogenet Cell Genet 40 : 697-698. 1985
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| 63 | ATS1, COL4A5
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| Alport syndrome caused by a 5' deletion within the COL4A5 gene.
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| Renieri A, et al.
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| Hum Genet 89 : 120-121. 1982
|