Published in Cytogenet Cell Genet on January 01, 1995
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Mutational analysis of the human nucleotide excision repair gene ERCC1. Nucleic Acids Res (1996) 1.53
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Evidence for two tumour suppressor loci on chromosomal bands 1p35-36 involved in neuroblastoma: one probably imprinted, another associated with N-myc amplification. Hum Mol Genet (1995) 1.45
The cloned human DNA excision repair gene ERCC-1 fails to correct xeroderma pigmentosum complementation groups A through I. Mutat Res (1989) 1.42
Regional assignment of the gene locus for steroid sulfatase. Hum Genet (1980) 1.40
Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy. Biochem Biophys Res Commun (1990) 1.36
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Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia. Eur J Hum Genet (1994) 1.23
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Complementation of repair gene mutations on the hemizygous chromosome 9 in CHO: a third repair gene on human chromosome 19. Genomics (1989) 1.22
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A male infant with holoprosencephaly, associated with ring chromosome 21. Clin Genet (1987) 1.15
Deletion mapping in neuroblastoma cell lines suggests two distinct tumor suppressor genes in the 1p35-36 region, only one of which is associated with N-myc amplification. Oncogene (1995) 1.13
The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet (2003) 1.13
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Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene. J Med Genet (2006) 1.10
The chromosomal localization of human beta-galactosidase revisited: a locus for beta-galactosidase on human chromosome 3 and for its protective protein on human chromosome 22. Hum Genet (1985) 1.10
Cloning of a candidate gene for ataxia-telangiectasia group D. Am J Hum Genet (1992) 1.09
Kinetics of the assembly of peroxisomes after fusion of complementary cell lines from patients with the cerebro-hepato-renal (Zellweger) syndrome and related disorders. Biochem Biophys Res Commun (1988) 1.08
Phenotypic heterogeneity within the first complementation group of UV-sensitive mutants of Chinese hamster cell lines. Mutat Res (1988) 1.07
Comparative genomic hybridization analysis of Wilms tumors. Cytogenet Cell Genet (1997) 1.05
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Maintenance of vascular endothelial cell-specific properties after immortalization with an amphotrophic replication-deficient retrovirus containing human papilloma virus 16 E6/E7 DNA. Exp Cell Res (1995) 1.03
Transfection of the cloned human excision repair gene ERCC-1 to UV-sensitive CHO mutants only corrects the repair defect in complementation group-2 mutants. Mutat Res (1988) 1.03
Biological and biochemical consequences of the human ERCC-1 repair gene after transfection into a repair-deficient CHO cell line. Mutat Res (1987) 1.02
Pericentric intrachromosomal insertion responsible for recurrence of del(11)(p13p14) in a family. Genes Chromosomes Cancer (1993) 1.01
Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion. Am J Hum Genet (1999) 1.01
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A dominant negative isoform of the long QT syndrome 1 gene product. J Biol Chem (1998) 0.99
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The human Achaete-Scute homologue 2 (ASCL2,HASH2) maps to chromosome 11p15.5, close to IGF2 and is expressed in extravillus trophoblasts. Hum Mol Genet (1997) 0.98
Repositioning the hereditary paraganglioma critical region on chromosome band 11q23. Hum Genet (1999) 0.98
Transformation and immortalization of diploid xeroderma pigmentosum fibroblasts. Exp Cell Res (1990) 0.98
Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23. Am J Hum Genet (1997) 0.98
Allelic loss of the short arm of chromosome 4 in neuroblastoma suggests a novel tumour suppressor gene locus. Hum Genet (1996) 0.97
Physical localization of microsatellite markers at the ataxia-telangiectasia locus at 11q22-q23. Genomics (1994) 0.97
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An ordered NotI fragment map of human chromosome band 11p15. Genomics (1994) 0.97
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DNA repair monitored by an enzymatic assay in multinucleate xeroderma pigmentosum cells after fusion. Nature (1974) 0.96
Characterization of regions of chromosomes 12 and 16 involved in nephroblastoma tumorigenesis. Genes Chromosomes Cancer (1995) 0.96
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Cloning of human RTEF-1, a transcriptional enhancer factor-1-related gene preferentially expressed in skeletal muscle: evidence for an ancient multigene family. Genomics (1996) 0.95
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A high-density microsatellite map of the ataxia-telangiectasia locus. Hum Genet (1995) 0.95
Molecular analysis of genetic changes in ependymomas. Genes Chromosomes Cancer (1995) 0.94
Genome-wide linkage in a large Dutch consanguineous family maps a locus for intracranial aneurysms to chromosome 2p13. Stroke (2004) 0.94
Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population. Genomics (1994) 0.93
Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. N Engl J Med (1986) 0.93