Published in Exp Cell Res on March 01, 1983
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Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nat Genet (1994) 2.08
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Two loci on chromosomes 2 and X for premature coronary heart disease identified in early- and late-settlement populations of Finland. Am J Hum Genet (2000) 1.93
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Alternative splicing of human elastin mRNA indicated by sequence analysis of cloned genomic and complementary DNA. Proc Natl Acad Sci U S A (1987) 1.87
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Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland. Genomics (1992) 1.81
A putative vulnerability locus to multiple sclerosis maps to 5p14-p12 in a region syntenic to the murine locus Eae2. Nat Genet (1996) 1.81
Peripheral blood platelets express VEGF-C and VEGF which are released during platelet activation. Thromb Haemost (1998) 1.80
Genetic susceptibility to multiple sclerosis linked to myelin basic protein gene. Lancet (1992) 1.79
Genome-wide scan for schizophrenia in the Finnish population: evidence for a locus on chromosome 7q22. Hum Mol Genet (2000) 1.77
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. Nat Genet (1999) 1.76
Quantitative-trait-locus analysis of body-mass index and of stature, by combined analysis of genome scans of five Finnish study groups. Am J Hum Genet (2001) 1.72
Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII. J Biol Chem (1980) 1.69
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Differences in DNA-fingerprints between remission and relapse in childhood acute lymphoblastic leukemia. Leuk Res (1988) 1.67
The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe. Hum Mol Genet (1998) 1.67
Gene defect in hypodontia: exclusion of EGF, EGFR, and FGF-3 as candidate genes. J Dent Res (1996) 1.66
Serum complement and familial combined hyperlipidemia. Atherosclerosis (1997) 1.64
Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis. Genomics (1993) 1.61
Association of DISC1 with autism and Asperger syndrome. Mol Psychiatry (2007) 1.60
Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations. J Med Genet (2008) 1.59
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nat Genet (1998) 1.58
Genomewide scan of multiple sclerosis in Finnish multiplex families. Am J Hum Genet (1997) 1.57
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Three-dimensional structure of human lysosomal aspartylglucosaminidase. Nat Struct Biol (1995) 1.56
Intragenic polymorphisms of the vitamin D receptor gene associated with intervertebral disc degeneration. Spine (Phila Pa 1976) (1998) 1.56
Markers of fibrogenesis and basement membrane formation in alcoholic liver disease. Relation to severity, presence of hepatitis, and alcohol intake. Gastroenterology (1990) 1.56
Structural diversity and domain composition of a unique collagenous fragment (intima collagen) obtained from human placenta. Biochem J (1983) 1.55
Effect of Val34Leu polymorphism on the activation of the coagulation factor XIII-A. Thromb Haemost (2000) 1.55
Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides. Proc Natl Acad Sci U S A (1992) 1.54
An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21. Nat Genet (1994) 1.53
Aberrant type I and type III collagen gene expression in human breast cancer in vivo. J Pathol (1998) 1.53
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features. Neurology (2001) 1.53
A visual migraine aura locus maps to 9q21-q22. Neurology (2010) 1.52
Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23. Nat Genet (1998) 1.52
Marfan Database (third edition): new mutations and new routines for the software. Nucleic Acids Res (1998) 1.49
Replication of 1q42 linkage in Finnish schizophrenia pedigrees. Mol Psychiatry (2004) 1.49
Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19. Am J Hum Genet (1994) 1.47
DISC1 association, heterogeneity and interplay in schizophrenia and bipolar disorder. Mol Psychiatry (2008) 1.47
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A haplotype within the DISC1 gene is associated with visual memory functions in families with a high density of schizophrenia. Mol Psychiatry (2005) 1.44
Biosynthesis of collagen and its alterations in pathological states. Med Biol (1976) 1.42
Association between novelty seeking and the type 4 dopamine receptor gene in a large Finnish cohort sample. Am J Psychiatry (1999) 1.42
The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population. Am J Hum Genet (1996) 1.41
Expanding the range of ZNF804A variants conferring risk of psychosis. Mol Psychiatry (2010) 1.41
Collagen metabolites in the prediction of response to GH therapy in short children. Eur J Endocrinol (1997) 1.40
A heterogeneity-based genome search meta-analysis for autism-spectrum disorders. Mol Psychiatry (2006) 1.39
Laminin. Methods Enzymol (1982) 1.37
Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease. Hum Mol Genet (1998) 1.37
A defect in the structure of type I procollagen in a patient who had osteogenesis imperfecta: excess mannose in the COOH-terminal propeptide. Proc Natl Acad Sci U S A (1980) 1.36
A novel mutation of the fibrillin gene causing ectopia lentis. Genomics (1994) 1.36
Thermal stability of type I and type III procollagens from normal human fibroblasts and from a patient with osteogenesis imperfecta. Proc Natl Acad Sci U S A (1980) 1.36