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Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1.
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Fine-scale mapping of a novel dementia gene, PLOSL, by linkage disequilibrium.
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Structure of the human amyloid-precursor-like protein gene APLP1 at 19q13.1.
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Molecular and genetic basis of inherited nephrotic syndrome.
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The contribution of ultrasound for the differential diagnosis of congenital and infantile nephrotic syndrome.
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The Finnish Disease Heritage III: the individual diseases.
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4
Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites.
Am J Hum Genet. 1999 Dec;65(6):1785-90. doi: 10.1086/302687.
5
Improved prognosis for congenital nephrotic syndrome of the Finnish type in Irish families.
Arch Dis Child. 1999 May;80(5):466-9. doi: 10.1136/adc.80.5.466.
6
Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.
Am J Hum Genet. 1999 Jan;64(1):51-61. doi: 10.1086/302182.
7
Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13.
Am J Hum Genet. 1998 Feb;62(2):362-72. doi: 10.1086/301722.
8
Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q.
Am J Hum Genet. 1996 Jun;58(6):1247-53.
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The amyloid precursor-like protein (APLP) gene maps to the long arm of human chromosome 19.
Genomics. 1993 Jan;15(1):237-9. doi: 10.1006/geno.1993.1047.
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Post-transplantation nephrosis in congenital nephrotic syndrome of the Finnish type.
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Disease gene mapping in isolated human populations: the example of Finland.
J Med Genet. 1993 Oct;30(10):857-65. doi: 10.1136/jmg.30.10.857.
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Evidence for human meiotic recombination interference obtained through construction of a short tandem repeat-polymorphism linkage map of chromosome 19.
Am J Hum Genet. 1993 Nov;53(5):1079-95.
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Congenital nephrotic syndrome of the Finnish type is not associated with the Pax-2 gene despite the promising transgenic animal model.
Genomics. 1994 Feb;19(3):570-2. doi: 10.1006/geno.1994.1109.
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Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19.
Am J Hum Genet. 1994 May;54(5):757-64.
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Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping.
Hum Mol Genet. 1993 Aug;2(8):1229-34. doi: 10.1093/hmg/2.8.1229.
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Exclusion of eight genes as mutated loci in congenital nephrotic syndrome of the Finnish type.
Kidney Int. 1994 Apr;45(4):986-90. doi: 10.1038/ki.1994.133.
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High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene.
Am J Hum Genet. 1994 Nov;55(5):937-45.
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Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses.
Am J Hum Genet. 1994 Oct;55(4):695-701.
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