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Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.
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
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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
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Ocular findings in 34 patients with Alport syndrome: correlation of the findings to mutations in COL4A5 gene.
Pajari H, Setälä K, Heiskari N, Kääriäinen H, Rosenlöf K, Koskimies O.
Pajari H, et al. Among authors: heiskari n.
Acta Ophthalmol Scand. 1999 Apr;77(2):214-7. doi: 10.1034/j.1600-0420.1999.770220.x.
Acta Ophthalmol Scand. 1999.
PMID: 10321542
Free article.
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A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome.
Hertz JM, Heiskari N, Zhou J, Jensen UB, Tryggvason K.
Hertz JM, et al. Among authors: heiskari n.
Kidney Int. 1995 Jan;47(1):327-32. doi: 10.1038/ki.1995.43.
Kidney Int. 1995.
PMID: 7731166
Free article.
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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.
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