Published in Nucleic Acids Res on November 25, 1987
A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res (1989) 5.27
Use of a HpaII-polymerase chain reaction assay to study DNA methylation in the Pgk-1 CpG island of mouse embryos at the time of X-chromosome inactivation. Mol Cell Biol (1990) 3.78
A quantitative HpaII-PCR assay to measure methylation of DNA from a small number of cells. Nucleic Acids Res (1990) 2.81
Detection of Mycoplasma pneumoniae by using the polymerase chain reaction. J Clin Microbiol (1989) 2.73
Quantification of biological aging in young adults. Proc Natl Acad Sci U S A (2015) 2.61
Exposure to violence during childhood is associated with telomere erosion from 5 to 10 years of age: a longitudinal study. Mol Psychiatry (2012) 2.37
Genetic and haplotypic structure in 14 European and African cattle breeds. Genetics (2007) 2.18
Detection of minority point mutations by modified PCR technique: a new approach for a sensitive diagnosis of tumor-progression markers. Nucleic Acids Res (1989) 2.04
A test of the double-strand break repair model for meiotic recombination in Saccharomyces cerevisiae. Genetics (1996) 1.98
Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Am J Hum Genet (1997) 1.88
Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc Natl Acad Sci U S A (1990) 1.82
Is chronic asthma associated with shorter leukocyte telomere length at midlife? Am J Respir Crit Care Med (2014) 1.55
Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome. J Med Genet (1993) 1.54
Perinatal complications and aging indicators by midlife. Pediatrics (2014) 1.51
A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q. Am J Hum Genet (1995) 1.40
Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. Am J Hum Genet (2001) 1.38
Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop. Am J Hum Genet (2001) 1.34
BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families. Breast Cancer Res (2005) 1.31
Ligation-mediated PCR improves the sensitivity of methylation analysis by restriction enzymes and detection of specific DNA strand breaks. Nucleic Acids Res (1990) 1.24
Internalizing disorders and leukocyte telomere erosion: a prospective study of depression, generalized anxiety disorder and post-traumatic stress disorder. Mol Psychiatry (2014) 1.21
Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. Am J Hum Genet (1997) 1.15
Paget disease of bone: mapping of two loci at 5q35-qter and 5q31. Am J Hum Genet (2001) 1.12
A potentially critical Hpa II site of the X chromosome-linked PGK1 gene is unmethylated prior to the onset of meiosis of human oogenic cells. Proc Natl Acad Sci U S A (1992) 1.07
Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. Proc Natl Acad Sci U S A (1994) 1.04
C-erbB2 mRNA expression in human breast tumours: comparison with c-erbB2 DNA amplification and correlation with prognosis. Br J Cancer (1990) 1.04
A genetic linkage map of the male goat genome. Genetics (1996) 1.02
A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease. Am J Hum Genet (1992) 0.98
Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical Group. Am J Hum Genet (1994) 0.95
Sequence analysis of Drd2, Drd4, and Dat1 in SHR and WKY rat strains. Behav Brain Funct (2005) 0.94
Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families. Hum Genet (2005) 0.94
Allele-specific methylation and expression of an imprinted U2af1-rs1 (SP2) gene. Nucleic Acids Res (1995) 0.94
A 5' splice site mutation in fucosidosis. J Med Genet (1993) 0.92
Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population. PLoS Genet (2013) 0.92
Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene. Am J Hum Genet (1999) 0.92
Mapping the gene for hereditary hyperparathyroidism and prolactinoma (MEN1Burin) to chromosome 11q: evidence for a founder effect in patients from Newfoundland. Am J Hum Genet (1994) 0.92
A rapid method for the isolation of genomic DNA from citrated whole blood. Biochem J (1991) 0.91
Detection of maternal cell contamination in amniotic fluid cell cultures using fluorescent labelled microsatellites. J Med Genet (1995) 0.91
Becker muscular dystrophy patient with a large intragenic dystrophin deletion: implications for functional minigenes and gene therapy. J Med Genet (1991) 0.90
The scurs inheritance: new insights from the French Charolais breed. BMC Genet (2009) 0.89
A deletion in exon 9 of the LIPH gene is responsible for the rex hair coat phenotype in rabbits (Oryctolagus cuniculus). PLoS One (2011) 0.86
Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis. Am J Hum Genet (1992) 0.86
Molecular definition of a chromosome 9p21 germ-line deletion in a woman with multiple melanomas and a plexiform neurofibroma: implications for 9p tumor-suppressor gene(s). Am J Hum Genet (1993) 0.86
miR-34a expression, epigenetic regulation, and function in human placental diseases. Epigenetics (2013) 0.86
Molecular mechanisms in Angelman syndrome: a survey of 93 patients. J Med Genet (1993) 0.85
A genetic study of neurofibromatosis type 1 (NF1) in south-western Ontario. II. A PCR based approach to molecular and prenatal diagnosis using linkage. J Med Genet (1993) 0.85
Significant linkage disequilibrium between the Huntington's disease locus and markers at loci D4S10, D4S95, and D4S111 in Northern Ireland. J Med Genet (1993) 0.85
The molecular defect underlying canine fucosidosis. J Med Genet (1996) 0.83
Hemolytic uremic syndrome due to homozygous factor H deficiency. Clin Exp Nephrol (2009) 0.83
A genetic study of neurofibromatosis 1 in south-western Ontario. I. Population, familial segregation of phenotype, and molecular linkage. J Med Genet (1991) 0.81
Crouzon syndrome is not linked to craniosynostosis loci at 7p and 5qter. J Med Genet (1994) 0.80
Mapping of the X linked form of hyper IgM syndrome (HIGM1) J Med Genet (1993) 0.79
Complete functional C1q deficiency associated with systemic lupus erythematosus (SLE). Clin Exp Immunol (1993) 0.78
T cell receptor beta chain polymorphisms are associated with cystic fibrosis. J Med Genet (1989) 0.78
Restricted genetic defects underlie human complement C6 deficiency. Clin Exp Immunol (2003) 0.77
Genetic Predisposition to Diabetic Nephropathy: Evidence for a Role of ACE (I/D) Gene Polymorphism in Type 2 Diabetic Population from Kutch Region. Indian J Clin Biochem (2013) 0.76
Telomere length and periodontal attachment loss: a prospective cohort study. J Clin Periodontol (2016) 0.75
Purification of genomic DNA using heparin to remove nuclear proteins. Nucleic Acids Res (1993) 0.75
Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency. J Med Genet (1991) 0.75
Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families. J Med Genet (1994) 0.75
Prenatal exclusion of Norrie's disease. Br J Ophthalmol (1992) 0.75
Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal. Proc Natl Acad Sci U S A (1994) 0.75
Carrier estimations in Duchenne muscular dystrophy families in Northern Ireland using RFLP analysis. J Med Genet (1990) 0.75
Isolation of high-molecular-weight DNA from mammalian cells. Eur J Biochem (1973) 24.38
Rapid isolation of eukaryotic DNA. Anal Biochem (1987) 5.99
A new method using 'proteinase K' to prevent mRNA degradation during isolation from HeLa cells. Biochem Biophys Res Commun (1971) 3.24