Published in Acta Psychiatr Scand on March 01, 1981
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The sex-determining region of the human Y chromosome encodes a finger protein. Cell (1987) 4.43
Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nat Genet (1997) 4.27
Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet (1999) 4.16
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
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Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. Nat Genet (2000) 3.39
Concomitant induction of phenylalanine ammonia-lyase and flavanone synthase mRNAs in irradiated plant cells. J Biol Chem (1979) 3.38
Conversion of diploidy to haploidy. Nature (2000) 3.28
Analysis of heterogeneous A4 peptides in human cerebrospinal fluid and blood by a newly developed sensitive Western blot assay. J Biol Chem (1996) 3.10
A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet (1981) 3.04
A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet (1986) 3.03
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell (1995) 2.89
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell (2001) 2.86
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) Science (1996) 2.73
Loss-of-function mutations in PPAR gamma associated with human colon cancer. Mol Cell (1999) 2.71
Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat Genet (1996) 2.70
Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. Hum Mol Genet (1993) 2.46
Fetal cells in the blood of pregnant women: detection and enrichment by fluorescence-activated cell sorting. Proc Natl Acad Sci U S A (1979) 2.45
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Altered striatal dopamine re-uptake site densities in habitually violent and non-violent alcoholics. Nat Med (1995) 2.40
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Breakfast skipping and health-compromising behaviors in adolescents and adults. Eur J Clin Nutr (2003) 2.35
Rearrangement of ALL1 (MLL) in acute myeloid leukemia with normal cytogenetics. Cancer Res (1998) 2.33
Low cerebrospinal fluid 5-hydroxyindoleacetic acid concentration differentiates impulsive from nonimpulsive violent behavior. Life Sci (1983) 2.31
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci U S A (1999) 2.27
CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts. Neurology (2001) 2.27
Dual origins of Finns revealed by Y chromosome haplotype variation. Am J Hum Genet (1998) 2.21
Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes. Nature (1985) 2.14
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Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers. Am J Pathol (2000) 2.03
Current practice of temporary vena cava filter insertion: a multicenter registry. J Vasc Interv Radiol (2000) 2.00
Mapping of the protein-coding regions of Rhizobium meliloti common nodulation genes. EMBO J (1984) 2.00
Mutations predisposing to hereditary nonpolyposis colorectal cancer. Adv Cancer Res (1997) 1.98
Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. Nat Genet (1999) 1.96
Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D(3). Proc Natl Acad Sci U S A (2001) 1.94
Age-related hypermethylation of the 5' region of MLH1 in normal colonic mucosa is associated with microsatellite-unstable colorectal cancer development. Cancer Res (2001) 1.93
The conserved part of the T-region in Ti-plasmids expresses four proteins in bacteria. EMBO J (1983) 1.92
A 3.6-kbp segment from the vir region of Ti plasmids contains genes responsible for border-sequence-directed production of T region circles in E. coli. EMBO J (1986) 1.92
Molecular Analysis and Heterologous Expression of an Inducible Cytochrome P-450 Protein from Periwinkle (Catharanthus roseus L.). Plant Physiol (1992) 1.87
MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis. Genes Chromosomes Cancer (1997) 1.83
The etiology of maleness in XX men. Hum Genet (1981) 1.82
Genetic control of serum IgE levels and asthma: linkage and linkage disequilibrium studies in an isolated population. Hum Mol Genet (1997) 1.82
Retroviral RNA identified in the cerebrospinal fluids and brains of individuals with schizophrenia. Proc Natl Acad Sci U S A (2001) 1.82
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Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies. Cell (1990) 1.80
Biomarker validation of a cued recall memory deficit in prodromal Alzheimer disease. Neurology (2012) 1.78
Human type I procollagen genes are located on different chromosomes. Proc Natl Acad Sci U S A (1982) 1.78
Semiautomated assessment of loss of heterozygosity and replication error in tumors. Cancer Res (1996) 1.77
Proline residues in the HIV-1 NH2-terminal capsid domain: structure determinants for proper core assembly and subsequent steps of early replication. Virology (2000) 1.77
The distribution of linkage disequilibrium over anonymous genome regions. Hum Mol Genet (1995) 1.76
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Am J Hum Genet (2001) 1.76
Mu opioid receptor gene variants: lack of association with alcohol dependence. Mol Psychiatry (1998) 1.72
Gender verification in the Olympics. JAMA (2000) 1.72
Structural control of polyketide formation in plant-specific polyketide synthases. Chem Biol (2000) 1.71
Linkage, physical mapping, and DNA sequence analysis of pseudoautosomal loci on the human X and Y chromosomes. Genomics (1987) 1.70
Acute ethanol-induced changes in cerebral blood flow. Am J Psychiatry (1994) 1.67
Tumour genes in plants: T-DNA encoded cytokinin biosynthesis. EMBO J (1985) 1.66
DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. Hum Mol Genet (1996) 1.64
Light-induced enzyme synthesis in cell suspension cultures of Petroselinum hortense. Demonstration in a heterologous cell-free system of rapid changes in the rate of phenylalanine ammonia-lyase synthesis. Eur J Biochem (1976) 1.62
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nat Genet (1999) 1.61
Chromosome damage after intra-articular injections of radioactive yttrium. Effect of immobilization on the biological dose. Ann Rheum Dis (1972) 1.60
The intrinsic factor-vitamin B12 receptor, cubilin, is a high-affinity apolipoprotein A-I receptor facilitating endocytosis of high-density lipoprotein. Nat Med (1999) 1.59
Aberrant expression of an amplified c-myb oncogene in two cell lines from a colon carcinoma. Proc Natl Acad Sci U S A (1984) 1.59
Characterization of a spontaneous murine B cell leukemia (BCL1). II. Tumor cell proliferation and IgM secretion after stimulation by LPS. J Immunol (1979) 1.58
Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer. Am J Hum Genet (1996) 1.58
Gene activation by UV light, fungal elicitor or fungal infection in Petroselinum crispum is correlated with repression of cell cycle-related genes. Plant J (1995) 1.55
Fetal lymphocytes in the maternal blood. Blood (1972) 1.54
Soluble amyloid precursor proteins in the cerebrospinal fluid as novel potential biomarkers of Alzheimer's disease: a multicenter study. Mol Psychiatry (2008) 1.54
Tumor formation and inactivation of RIZ1, an Rb-binding member of a nuclear protein-methyltransferase superfamily. Genes Dev (2001) 1.54
Expression of plant tumor-specific proteins in minicells of Escherichia coli: a fusion protein of lysopine dehydrogenase with chloramphenicol acetyltransferase. Nucleic Acids Res (1981) 1.53
Linkage of antisocial alcoholism to the serotonin 5-HT1B receptor gene in 2 populations. Arch Gen Psychiatry (1998) 1.52
Predictive genetic testing for hereditary non-polyposis colorectal cancer: uptake and long-term satisfaction. Int J Cancer (2000) 1.49
Expression of the human mismatch repair gene hMSH2 in normal and neoplastic tissues. Cancer Res (1996) 1.49
Polymerase delta variants in RER colorectal tumours. Nat Genet (1995) 1.47
Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea. Am J Physiol (1999) 1.47
Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium. Am J Hum Genet (1995) 1.46
High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene. Am J Hum Genet (1994) 1.45
Nuclear and polysomal transcripts of T-DNA in octopine crown gall suspension and callus cultures. Mol Gen Genet (1981) 1.45
Evidence that stilbene synthases have developed from chalcone synthases several times in the course of evolution. J Mol Evol (1994) 1.44
Induced plant responses to pathogen attack. Analysis and heterologous expression of the key enzyme in the biosynthesis of phytoalexins in soybean (Glycine max L. Merr. cv. Harosoy 63). Eur J Biochem (1991) 1.43
Multicenter assessment of CSF-phosphorylated tau for the prediction of conversion of MCI. Neurology (2007) 1.43
A multiple-staining procedure for the detection of different DNA fragments on a single blot. Anal Biochem (1990) 1.42
Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. Hum Mol Genet (1995) 1.42
The role of cysteines in polyketide synthases. Site-directed mutagenesis of resveratrol and chalcone synthases, two key enzymes in different plant-specific pathways. J Biol Chem (1991) 1.41