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1995 1
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1999 1
2000 1
2021 0
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Page 1
Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.
Martin P, Heiskari N, Pajari H, Grönhagen-Riska C, Kääriäinen H, Koskimies O, Tryggvason K. Martin P, et al. Among authors: heiskari n. Hum Mutat. 2000 Jun;15(6):579. doi: 10.1002/1098-1004(200006)15:6<579::AID-HUMU13>3.0.CO;2-K. Hum Mutat. 2000. PMID: 10862091
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.
Heiskari N, Zhang X, Zhou J, Leinonen A, Barker D, Gregory M, Atkin CL, Netzer KO, Weber M, Reeders S, Grönhagen-Riska C, Neumann HP, Trembath R, Tryggvason K. Heiskari N, et al. J Am Soc Nephrol. 1996 May;7(5):702-9. doi: 10.1681/ASN.V75702. J Am Soc Nephrol. 1996. PMID: 8738805 Free article.
High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.
Martin P, Heiskari N, Zhou J, Leinonen A, Tumelius T, Hertz JM, Barker D, Gregory M, Atkin C, Styrkarsdottir U, Neumann H, Springate J, Shows T, Pettersson E, Tryggvason K. Martin P, et al. Among authors: heiskari n. J Am Soc Nephrol. 1998 Dec;9(12):2291-301. doi: 10.1681/ASN.V9122291. J Am Soc Nephrol. 1998. PMID: 9848783 Free article.
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. Renieri A, et al. Among authors: heiskari n. Am J Hum Genet. 1996 Jun;58(6):1192-204. Am J Hum Genet. 1996. PMID: 8651296 Free PMC article.