LitCoin-MONDO_bioort2019  

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PubMed 10788334 Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish popul 1.53 KB 2015-11-15 35 13 2021-12-23
PubMed 1353340 Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. We report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In th 716 Bytes 2015-11-18 42 6 2021-12-23
PubMed 9294109 Myotonic dystrophy protein kinase is involved in the modulation of the Ca2+ homeostasis in skeletal muscle cells. Myotonic dystrophy (DM), the most prevalent muscular disorder in adults, is caused by 1.33 KB 2015-12-08 46 5 2021-12-23
PubMed 2491010 Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene. Eighty unrelated individuals with Duchenne muscular dystroph 1.55 KB 2016-01-17 33 12 2021-12-23
PubMed 7668252 Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. Two overlapping cDNA clones (1,991 bp and 736 bp, respectively) encodin 1.43 KB 2015-03-12 30 4 2021-12-23
PubMed 1671881 Two distinct mutations at a single BamHI site in phenylketonuria. Classical phenylketonuria is an autosomal recessive disease caused by a deficiency of hepatic phenylalanine hydroxylase (PAH). The abo 701 Bytes 2015-11-23 49 6 2021-12-23
PubMed 8755918 Mutations associated with variant phenotypes in ataxia-telangiectasia. We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less sever 1.31 KB 2015-11-27 49 8 2021-12-23
PubMed 2422478 Midline B3 serotonin nerves in rat medulla are involved in hypotensive effect of methyldopa. Previous experiments in this laboratory have shown that microinjection of methyldopa onto the ventrolateral 1.64 KB 2016-01-15 49 4 2021-12-23
PubMed 1848636 Debrisoquine phenotype and the pharmacokinetics and beta-2 receptor pharmacodynamics of metoprolol and its enantiomers. The metabolism of the cardioselective beta-blocker metoprolol is under genetic c 1.78 KB 2015-12-07 32 1 2021-12-23
PubMed 19048115 Neurofibromin 1 (NF1) defects are common in human ovarian serous carcinomas and co-occur with TP53 mutations. Ovarian serous carcinoma (OSC) is the most common and lethal histologic type of ovarian ep 1.67 KB 2015-11-24 28 18 2021-12-23