Published in Hum Genet on May 01, 1988
A normal birth following preimplantation genetic diagnosis by FISH determination in the carriers of der(15)t(Y;15)(Yq12;15p11) translocations: two case reports. J Assist Reprod Genet (2007) 0.85
46,XX, der(15),t(Y;15)(q12;p11) karyotype in an azoospermic male. Indian J Hum Genet (2012) 0.76
Prenatal diagnosis of the maternal derivative chromosome der(15)t(Y;15)(q12;p13) in a dizygotic twin pregnancy. Ci Ji Yi Xue Za Zhi (2016) 0.75
Meiotic defects and decreased expression of genes located around the chromosomal breakpoint in the testis of a patient with a novel 46,X,t(Y;1)(p11.3;p31) translocation. Int J Mol Med (2017) 0.75
Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet (1992) 15.62
A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature (1998) 10.35
Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med (1998) 8.47
Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer (1999) 6.73
Hypermutability and mismatch repair deficiency in RER+ tumor cells. Cell (1993) 6.61
An interspersed repeated sequence specific for human subtelomeric regions. EMBO J (1990) 5.30
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell (1994) 5.21
Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med (1996) 4.87
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
Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nat Genet (1995) 4.01
Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol (2000) 3.98
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet (1996) 3.90
Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. Nat Genet (2000) 3.39
Conversion of diploidy to haploidy. Nature (2000) 3.28
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
Reversal of the sedative and sympatholytic effects of dexmedetomidine with a specific alpha2-adrenoceptor antagonist atipamezole: a pharmacodynamic and kinetic study in healthy volunteers. Anesthesiology (1998) 2.44
Altered striatal dopamine re-uptake site densities in habitually violent and non-violent alcoholics. Nat Med (1995) 2.40
Pericentric inversions of human chromosomes 9 and 10. Am J Hum Genet (1974) 2.40
hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. Cancer Res (1994) 2.39
Gene expression in papillary thyroid carcinoma reveals highly consistent profiles. Proc Natl Acad Sci U S A (2001) 2.38
Rearrangement of ALL1 (MLL) in acute myeloid leukemia with normal cytogenetics. Cancer Res (1998) 2.33
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
Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes. Nature (1985) 2.14
Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer. Nat Genet (1994) 2.08
Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers. Am J Pathol (2000) 2.03
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
Maternal smoking during pregnancy and risk of criminal behavior among adult male offspring in the Northern Finland 1966 Birth Cohort. Am J Psychiatry (1999) 1.85
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
Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies. Cell (1990) 1.80
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
Quantitative MRI of the hippocampus and amygdala in severe depression. Psychol Med (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
Seasonal variation in suicide occurrence in Finland. Acta Psychiatr Scand (1998) 1.73
Gender verification in the Olympics. JAMA (2000) 1.72
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
DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. Hum Mol Genet (1996) 1.64
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
Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer. Am J Hum Genet (1996) 1.58
Tumor formation and inactivation of RIZ1, an Rb-binding member of a nuclear protein-methyltransferase superfamily. Genes Dev (2001) 1.54
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
Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. Hum Mol Genet (1995) 1.42
Genetic homogeneity of cartilage-hair hypoplasia. Hum Genet (1995) 1.39
Microsatellite instability in adenomas as a marker for hereditary nonpolyposis colorectal cancer. Am J Pathol (1999) 1.38
The inheritance of fragile sites: apparent absence of fra(2)(q13) in the parents of three unrelated probands. J Med Genet (1987) 1.38
Polymorphic variation at the BAT-25 and BAT-26 loci in individuals of African origin. Implications for microsatellite instability testing. Am J Pathol (1999) 1.36
A novel approach to estimate the proportion of hereditary nonpolyposis colorectal cancer of total colorectal cancer burden. Cancer Detect Prev (1994) 1.36
Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene. FEBS Lett (1990) 1.35
Mutations in KERA, encoding keratocan, cause cornea plana. Nat Genet (2000) 1.33
Chromosome Y-specific DNA is transferred to the short arm of X chromosome in human XX males. Science (1986) 1.32
Candidate tumor suppressor RIZ is frequently involved in colorectal carcinogenesis. Proc Natl Acad Sci U S A (2000) 1.32
Aberrant splicing of the CHM gene is a significant cause of choroideremia. Nat Genet (1992) 1.31
Cytogenetic studies of 103 patients with acute myelogenous leukemia in relapse. Cancer Genet Cytogenet (1989) 1.31
Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis. Nat Genet (1993) 1.30
Analytic review: nature and origin of males with XX sex chromosomes. Am J Hum Genet (1972) 1.30
Genetic evidence of X-Y interchange in a human XX male. Nature (1984) 1.29
Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene. Hum Mutat (1998) 1.28
Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene. J Clin Endocrinol Metab (1996) 1.27
Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. Proc Natl Acad Sci U S A (1991) 1.27
Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3. J Med Genet (1998) 1.27
Chromosome Y-specific DNA in related human XX males. Nature (1985) 1.26
Diastrophic dysplasia gene maps to the distal long arm of chromosome 5. Proc Natl Acad Sci U S A (1990) 1.26
A large pericentric inversion of human chromosome 8. Am J Hum Genet (1976) 1.25
Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X;autosome translocation. Hum Genet (1982) 1.25
Association between low activity serotonin transporter promoter genotype and early onset alcoholism with habitual impulsive violent behavior. Mol Psychiatry (1999) 1.24
How do human isochromosomes arise? Cancer Genet Cytogenet (1982) 1.23
Monoamine oxidase deficiency in males with an X chromosome deletion. Neuron (1989) 1.23
The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease. Gut (2010) 1.23
Exchange of terminal portions of X- and Y-chromosomal short arms in human XX males. Nature (1987) 1.20
An abnormal terminal X-Y interchange accounts for most but not all cases of human XX maleness. Cell (1987) 1.20
Reconstructing hominid Y evolution: X-homologous block, created by X-Y transposition, was disrupted by Yp inversion through LINE-LINE recombination. Hum Mol Genet (1998) 1.19
A volumetric MRI study of the hippocampus in type 1 and 2 alcoholism. Behav Brain Res (2000) 1.19
Vitamin D intake is low and hypovitaminosis D common in healthy 9- to 15-year-old Finnish girls. Eur J Clin Nutr (1999) 1.19
Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1. Nat Genet (1997) 1.18