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2009 NOV 2 ... tumors," scientists in the United States report. "We hypothesized that biallelic inactivation of NF1 underlies the pathogenesis of these tumors. In 12 NF1-associated ...
2009 AUG 26 ... type A being characterized by smaller, more subtle allelic shifts compared to type B. Biallelic mutations of MMR genes are associated with pediatric cancers, including glial tumors, in ...
2009 AUG 24 ... of 9 missense, 1 silent, 7 nonsense and 15 frameshift mutations. Two patients had biallelic heterozygous mutations. There was no difference in overall survival between patients ...
2009 AUG 31 ... 309 participants (142 male participants, 167 female participants) were genotyped for the biallelic and triallelic 5-HTTLPR and were administered a 45-day alcohol timeline follow-back ...
2009 OCT 5 ... patients with cervical cancer (n = 317) and healthy controls (n = 353) for detecting the biallelic polymorphisms at codon 31 of p21 gene by the mismatch amplification mutation ...
2009 OCT 19 ... were found. Four of the 28 MSI-H cases, including one Amsterdam criteria case, had biallelic tumor MLH1 methylation, indicating that sporadic cases can be admixed in with Lynch ...
2009 NOV 2 ... rates of 4%. Microsatellite analysis excluded external contamination and confirmed biallelic inheritance," wrote C. Christofidou and colleagues, University of Athens. ...
2009 JUL 28 ... "ATM activated by the cleaved allele acts in trans on the uncleaved allele to prevent biallelic recombination and chromosome breaks or translocations." Hewitt and ...
2009 NOV 30 ... and, somewhat surprisingly, in introns. All short RLPs observed in multiple genomes are biallelic (at least in this small sample). In contrast, long repeats are highly polymorphic and ...
2009 SEP 14 ... Jerusalem, Israel report. "Recently, several publications identified that biallelic mutations in the MMR genes are associated with a more severe phenotype, including ...
2009 SEP 11 ... harbor somatic and germline KRIT1 mutations on different chromosomes and are therefore biallelic. Both mutations are predicted to truncate the protein. The KRIT1 somatic mutations ...
2009 OCT 12 ... at four out of seven imprinted genes examined. Embryos derived from these oocytes showed biallelic expression or biallelic suppression of the affected ...
2009 SEP 30 ... (CMT) disease consistent with both autosomal recessive inheritance and sporadic cases. Biallelic pathogenic mutations were not found in any patient in this group," scientists in ...
2009 SEP 14 ... leiomyomatosis and renal cell cancer (HLRCC) is an inherited cancer syndrome linked to biallelic inactivation of the gene encoding the tricarboxylic acid cycle enzyme fumarate hydratase ...
2009 AUG 24 ... a component of the Fanconi anemia ( FA) core complex and one FA patient (EUFA867) with biallelic mutations in FANCM has been described. Strikingly, we found that EUFA867 also carries ...
2009 AUG 24 ... colorectal cancer syndrome, caused by germline mutations in the APC gene. Recently, biallelic mutations in MUTYH have also been identified in patients with multiple colorectal ...
2009 SEP 14 ... "MUTYH-associated polyposis (MAP) is a recessively inherited disorder which predisposes biallelic carriers for a high risk of polyposis and colorectal carcinoma (CRC). Since about one ...
2009 AUG 25 ... (Estimates of natural selection due to protein tertiary structure inform the ancestry of biallelic loci. Gene, 2009;441(1-2 Sp. Is):45-52). For additional information, ...
2009 NOV 30 ... expression," wrote X. Geng and colleagues. The researchers concluded: "Biallelic inactivation of the hMLH1 gene by LOH combined with promoter hypermethylation is likely ...
