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PubMed 9272171 Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. We examined galactosylceramidase (GALC) cDNA in four Japanese patients with 1.74 KB 2015-11-27 25 11
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PubMed 9271438 The von Hippel-Lindau tumor suppressor gene product interacts with Sp1 to repress vascular endothelial growth factor promoter activity. The von Hippel-Lindau tumor suppressor gene (VHL) has a critical 1.82 KB 2015-03-12 23 10
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PubMed 9245987 Constitutively methylated CpG dinucleotides as mutation hot spots in the retinoblastoma gene (RB1). A wide spectrum of mutations, ranging from point mutations to large deletions, have been described i 1.5 KB 2015-03-12 23 2
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PubMed 9241282 Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Myotonic dystrophy, or dystrophia myotonica (DM), is an autosomal dominant multisystem disorder caused by th 1.45 KB 2015-11-27 25 9
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PubMed 9241281 atm and p53 cooperate in apoptosis and suppression of tumorigenesis, but not in resistance to acute radiation toxicity. Mutations in atm and p53 cause the human cancer-associated diseases ataxia-telan 1.5 KB 2015-11-27 25 8
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PubMed 9223312 Fusion genes resulting from alternative chromosomal translocations are overexpressed by gene-specific mechanisms in alveolar rhabdomyosarcoma. Chromosomal translocations identified in hematopoietic an 1.22 KB 2015-11-27 25 5
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PubMed 9223307 Isolation of full-length ATM cDNA and correction of the ataxia-telangiectasia cellular phenotype. A gene mutated in the human genetic disorder ataxia-telangiectasia (A-T), ATM, was recently identified 1.09 KB 2015-11-27 25 7
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PubMed 9222760 Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis. Classical galactosemia is caused by one common missense mutation (Q188R) and 1.21 KB 2015-03-12 26 9
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PubMed 9218625 Molecular bases of C7 deficiency: three different defects. The molecular basis of C7 deficiency has been investigated in two Irish families and a number of Israeli families of Moroccan Sephardic Jewis 946 Bytes 2015-12-06 23 3
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PubMed 9195227 Screening for ESR mutations in breast and ovarian cancer patients. In the present study, leukocyte DNA from 143 patients with familial clustering of breast and/or ovarian cancer and tumour DNA from 96 1.09 KB 2015-11-28 27 9
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