Published in Hum Genet on March 01, 1991
Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome. Am J Hum Genet (1992) 1.20
A complex rearrangement associated with sex reversal and the Wolf-Hirschhorn syndrome: a cytogenetic and molecular study. J Med Genet (1992) 0.96
Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome. J Med Genet (1994) 0.89
Degenerate oligonucleotide-primed PCR: general amplification of target DNA by a single degenerate primer. Genomics (1992) 9.06
Localization of the receptor-binding protein adhesin at the tip of the bacterial pilus. Nature (1987) 4.72
Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma. Nature (1988) 3.96
Prediction of the risk of hereditary retinoblastoma, using DNA polymorphisms within the retinoblastoma gene. N Engl J Med (1988) 3.90
Cytogenetic analysis by chromosome painting using DOP-PCR amplified flow-sorted chromosomes. Genes Chromosomes Cancer (1992) 3.03
The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes. Mol Psychiatry (2006) 2.80
Loss of constitutional heterozygosity in human cancer. Annu Rev Genet (1991) 2.77
Human estrogen receptor beta-gene structure, chromosomal localization, and expression pattern. J Clin Endocrinol Metab (1997) 2.73
Clinical and genetic studies of Birt-Hogg-Dubé syndrome. J Med Genet (2002) 2.65
Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer. Nat Genet (1993) 2.37
Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas. Nat Genet (1994) 2.28
A systematic review of socio-economic differences in food habits in Europe: consumption of fruit and vegetables. Eur J Clin Nutr (2000) 2.15
Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum Mol Genet (1993) 2.05
A regulatory role for RIP140 in nuclear receptor activation. Mol Endocrinol (1998) 1.82
Birt-Hogg-Dubé syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2. Oncogene (2001) 1.81
Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH). J Med Genet (2005) 1.79
Novel filaggrin mutation but no other loss-of-function variants found in Ethiopian patients with atopic dermatitis. Br J Dermatol (2011) 1.77
The chaperone-like protein YerA of Yersinia pseudotuberculosis stabilizes YopE in the cytoplasm but is dispensible for targeting to the secretion loci. Mol Microbiol (1995) 1.64
Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. Am J Hum Genet (1999) 1.56
Segregation analysis of the X-chromosome in a family with Rett syndrome in two generations. Am J Med Genet (1990) 1.54
Dapagliflozin maintains glycaemic control while reducing weight and body fat mass over 2 years in patients with type 2 diabetes mellitus inadequately controlled on metformin. Diabetes Obes Metab (2013) 1.54
Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. Am J Hum Genet (2001) 1.53
Frequent amplification of the telomerase reverse transcriptase gene in human tumors. Cancer Res (2000) 1.52
Invasive group B Streptococcal disease in non-pregnant adults : a review with emphasis on skin and soft-tissue infections. Infection (2008) 1.48
Loss of heterozygosity in human ductal breast tumors indicates a recessive mutation on chromosome 13. Proc Natl Acad Sci U S A (1987) 1.47
Cloning and characterization of a novel human gene related to vascular endothelial growth factor. Genome Res (1996) 1.43
Von Willebrand factor predicts major bleeding and mortality during oral anticoagulant treatment. J Intern Med (2011) 1.41
305 cases of permanent intravenous pacemaker treatment for Adams-Stokes syndrome. Surgery (1966) 1.38
Dapagliflozin has no effect on markers of bone formation and resorption or bone mineral density in patients with inadequately controlled type 2 diabetes mellitus on metformin. Diabetes Obes Metab (2012) 1.37
Localization of the MEN1 gene to a small region within chromosome 11q13 by deletion mapping in tumors. Proc Natl Acad Sci U S A (1990) 1.36
Felodipine kinetics in healthy men. Clin Pharmacol Ther (1985) 1.35
Mortality and cancer morbidity in cohorts of asbestos cement workers and referents. Br J Ind Med (1990) 1.35
Leptin, but not adiponectin, predicts stroke in males. J Intern Med (2004) 1.31
Deletion mapping of a locus on human chromosome 22 involved in the oncogenesis of meningioma. Proc Natl Acad Sci U S A (1987) 1.30
Whole-body adipose tissue analysis: comparison of MRI, CT and dual energy X-ray absorptiometry. Br J Radiol (2009) 1.30
Lipoprotein profiles in plasma and interstitial fluid analyzed with an automated gel-filtration system. Eur J Clin Invest (2006) 1.26
DAX-1 functions as an LXXLL-containing corepressor for activated estrogen receptors. J Biol Chem (2000) 1.20
A high-density SNP linkage scan with 142 combined subtype ADHD sib pairs identifies linkage regions on chromosomes 9 and 16. Mol Psychiatry (2008) 1.18
Deletion mapping in human renal cell carcinoma. Cancer Res (1989) 1.17
Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families. Cancer Res (1995) 1.17
Effects on the nervous system among welders exposed to aluminium and manganese. Occup Environ Med (1996) 1.14
Accidental deaths from asphyxia. A 10-year retrospective study from Sweden. Am J Forensic Med Pathol (1993) 1.13
Loss of heterozygosity in malignant gliomas involves at least three distinct regions on chromosome 10. Hum Genet (1993) 1.13
Molecular genetic analysis of chromosome 22 in 81 cases of meningioma. Cancer Res (1990) 1.13
Aortopulmonary window: a new operative approach. Ann Thorac Surg (1978) 1.13
Pharmacokinetic and pharmacodynamic properties of metoprolol in patients with impaired renal function. Clin Pharmacokinet (1980) 1.13
Survival after severe cerebral anoxia with destruction of the cerebral cortex: the apallic syndrome. Ann N Y Acad Sci (1978) 1.10
Disparities in vegetable and fruit consumption: European cases from the north to the south. Public Health Nutr (2001) 1.10
Differences in long-term outcome between patients treated in stroke units and in general wards: a 2-year follow-up of stroke patients in sweden. Stroke (2001) 1.09
Tetrasomy 15q: two marker chromosomes with no detectable alpha-satellite DNA. Am J Hum Genet (1994) 1.09
The risk of myocardial infarction and sudden cardiac death amongst snuff users with or without a previous history of smoking. J Intern Med (2007) 1.09
Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies. J Med Genet (2006) 1.09
Complete characterization of a large marker chromosome by reverse and forward chromosome painting. Hum Genet (1992) 1.09
Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations. J Intern Med (2008) 1.08
Unintentional fatal paraquat poisonings among agricultural workers in Costa Rica: report of 15 cases. Am J Ind Med (1997) 1.06
Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer. Hum Genet (1997) 1.06
Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis. J Med Genet (2007) 1.06
Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: prevalence and characterization by fluorescence in situ hybridization. Prenat Diagn (1994) 1.06
Susceptibility loci for atopic dermatitis on chromosomes 3, 13, 15, 17 and 18 in a Swedish population. Hum Mol Genet (2002) 1.05
Increased frequency of sister chromatid exchanges in cigarette smokers. Hereditas (1978) 1.04
Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH). Am J Hum Genet (1993) 1.04
A map of 22 loci on human chromosome 22. Genomics (1991) 1.04
Predisposition for breast cancer in carriers of constitutional translocation 11q;22q. Am J Hum Genet (1994) 1.04
Recombinations of chromosomal bands 6p21 and 14q24 characterise pulmonary hamartomas. Br J Cancer (1993) 1.04
Late-life obesity is associated with smaller global and regional gray matter volumes: a voxel-based morphometric study. Int J Obes (Lond) (2012) 1.04
Strand-break formation in DNA modified by benzo[alpha]pyrene diolepoxide. Quantitative cleavage by Escherichia coli uvrABC endonuclease. Mutat Res (1983) 1.02
One hundred cases of treatment for Adams-Stokes syndrome with permanent intravenous pacemaker. J Thorac Cardiovasc Surg (1965) 1.02
The trophoblastic epithelial barrier is not infected in full-term placentae of human immunodeficiency virus-seropositive mothers undergoing antiretroviral therapy. J Virol (1999) 1.02
The amount of informal and formal care among non-demented and demented elderly persons-results from a Swedish population-based study. Int J Geriatr Psychiatry (2005) 1.01
Automated and reproducible segmentation of visceral and subcutaneous adipose tissue from abdominal MRI. Int J Obes (Lond) (2007) 1.01
Three cases of dental technician's pneumoconiosis related to cobalt-chromium-molybdenum dust exposure. Chest (1996) 1.00
Detailed physical map of human chromosomal region 11q12-13 shows high meiotic recombination rate around the MEN1 locus. Proc Natl Acad Sci U S A (1991) 1.00
Loss of heterozygosity in familial breast carcinomas. Cancer Res (1993) 1.00
Deletions on chromosome 16 in primary familial breast carcinomas are associated with development of distant metastases. Cancer Res (1993) 0.99
A high degree of aneuploidy in frozen-thawed human preimplantation embryos. Hum Genet (1999) 0.99
Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization. Am J Med Genet (1995) 0.98
Mineral fibres, fibrosis, and asbestos bodies in lung tissue from deceased asbestos cement workers. Br J Ind Med (1990) 0.98
Biokinetics and radiation doses for carbon-14 urea in adults and children undergoing the Helicobacter pylori breath test. Eur J Nucl Med (1999) 0.98
Partial monosomy 8p with minimal dysmorphic signs. J Med Genet (1990) 0.97
Surveillance of mortality and cancer incidence among Swedish graphite electrode workers. Environ Res (1995) 0.97
Experimental disease models for the assessment of meningococcal vaccines. Vaccine (2005) 0.97
Environmental exposure to lead and arsenic among children living near a glassworks. Sci Total Environ (1988) 0.97
Chromosome aberrations and sister-chromatid exchange in workers in chemical laboratories and a rotoprinting factory and in children of women laboratory workers. Lancet (1977) 0.97
Single cell CGH analysis reveals a high degree of mosaicism in human embryos from patients with balanced structural chromosome aberrations. Mol Hum Reprod (2002) 0.96
Comparison of high-selectivity gas chromatographic methods, including column switching, for the determination of felodipine in plasma. J Chromatogr (1987) 0.96
Familial isolated hyperparathyroidism: a distinct genetic entity with an increased risk of parathyroid cancer. J Clin Endocrinol Metab (1993) 0.96
Chromosomal deletions in anaplastic meningiomas suggest multiple regions outside chromosome 22 as important in tumor progression. Int J Cancer (1994) 0.95
Estrogen treatment of tall girls: dose dependency of effects on subsequent growth and IGF-I levels in blood. Acta Paediatr Scand (1991) 0.95
A total atherosclerotic score for whole-body MRA and its relation to traditional cardiovascular risk factors. Eur Radiol (2008) 0.95
Somatic and MEN 2A de novo mutations identified in the RET proto-oncogene by screening of sporadic MTC:s. Hum Mol Genet (1994) 0.94
Nutritional status according to mini nutritional assessment in an institutionalized elderly population in Sweden. Gerontology (2000) 0.93
Bayesian methods for meta-analysis of causal relationships estimated using genetic instrumental variables. Stat Med (2010) 0.93
Manganese exposure in steel smelters a health hazard to the nervous system. Scand J Work Environ Health (1991) 0.93
Assessment of lipids in skeletal muscle by high-resolution spectroscopic imaging using fat as the internal standard: comparison with water referenced spectroscopy. Magn Reson Med (2008) 0.93
Raji revisited: cytogenetics of the original Burkitt's lymphoma cell line. Leukemia (2005) 0.92
Deletions on chromosome 22 in sporadic meningioma. Genes Chromosomes Cancer (1994) 0.92
Potential nitrite scavengers as inhibitors of the formation of N-nitrosamines in solution and tobacco matrix systems. J Agric Food Chem (2000) 0.92
CHEK2*1100delC is not an important high-risk gene in families with hereditary prostate cancer in southern Sweden. Scand J Urol Nephrol (2006) 0.91