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PubMed 16781314 Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1. We report an unusual case of an inherited disorder of the desmo 1.02 KB 2015-11-19 34 16 2021-12-05
PubMed 16575011 Tumor thymidylate synthase 1494del6 genotype as a prognostic factor in colorectal cancer patients receiving fluorouracil-based adjuvant treatment. PURPOSE: The purpose of this study was to analyze the 1.95 KB 2015-11-19 27 44 2021-12-05
PubMed 16506214 Genetic variation in the COX-2 gene and the association with prostate cancer risk. COX-2 is a key enzyme in the conversion of arachidonic acid to prostaglandins. The prostaglandins produced by COX-2 a 1.67 KB 2015-11-19 28 27 2021-12-05
PubMed 16410744 Genetic alterations in primary glioblastomas in Japan. Current knowledge of genetic alterations in glioblastomas is based largely on genetic analyses of tumors from mainly caucasian patients in the Un 2.03 KB 2015-11-20 28 30 2021-12-05
PubMed 16288199 The promoter of inducible nitric oxide synthase implicated in glaucoma based on genetic analysis and nuclear factor binding. PURPOSE: Nitric oxide has many beneficial functions in the human body at th 1.7 KB 2015-11-23 25 24 2021-12-05
PubMed 16288197 Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree. PURPOSE: Congenital microcoria is a rare autosomal dominant developmental disorder of the iris associated with 2.59 KB 2015-11-19 29 39 2021-12-05
PubMed 16277682 Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family. Mutations of the p62/Sequestosome 1 gene (p62/SQSTM1) account 1.92 KB 2015-08-06 44 38 2021-12-05
PubMed 16152606 Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies. Nijmegen breakage syndrome (NBS) is a human autosomal recessive 1.76 KB 2015-11-19 45 40 2021-12-05
PubMed 16120104 A single-nucleotide polymorphism in the 5'-untranslated region of the hPER2 gene is associated with diurnal preference. The PERIOD2 (PER2) gene is a key component of the molecular mechanism that gener 1.58 KB 2015-11-19 26 18 2021-12-05
PubMed 16046395 Allelic expression imbalance of human mu opioid receptor (OPRM1) caused by variant A118G. As a primary target for opioid drugs and peptides, the mu opioid receptor (OPRM1) plays a key role in pain per 1.52 KB 2015-11-19 50 28 2021-12-05