about
Digenic mutations in severe congenital neutropeniaDyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor geneConsensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practiceNovel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis.Frequency of BRCA1 mutation 5382insC in German breast cancer patients.CFTR gene mutations and male infertility.Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benignImprovement of interpretation in cystic fibrosis clinical laboratory reports: longitudinal analysis of external quality assessment dataCharacterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.Blood-based microRNA signatures differentiate various forms of cardiac hypertrophy.Characterization of ATM gene mutations in 66 ataxia telangiectasia families.Vascular endothelial growth factor A polymorphism and risk of Kaposi's sarcoma herpesvirus viremia in kidney allograft recipients.Testing the parents to confirm genotypes of CF patients is highly recommended: report of two cases.Identification and clinical presentation of beta thalassaemia mutations in the eastern region of Saudi Arabia.Mutation and haplotype analysis of the CFTR gene in atypically mild cystic fibrosis patients from Northern Ireland.BRCA1 expression is not affected by the intronic 12 bp duplication.Genotype analysis of cystic fibrosis patients in relation to pancreatic sufficiency.Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme.Frequency of the delta F508 mutation and flanking marker haplotypes at the CF locus from 167 Czech families.[123I]AM281 single-photon emission computed tomography imaging of central cannabinoid CB1 receptors before and after Delta9-tetrahydrocannabinol therapy and whole-body scanning for assessment of radiation dose in tourette patients.Increased seroprevalence of human herpes virus-8 in renal transplant recipients in Saudi Arabia.1,25-Dihydroxyvitamin D decreases HTRA1 promoter activity in the rhesus monkey--a plausible explanation for the influence of vitamin D on age-related macular degeneration?Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.Polymorphisms of the human beta-defensin-1 gene.A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: coincidence or a new entity?Should TSPYL1 mutation screening be included in routine diagnostics of male idiopathic infertility?Aortic dissecting aneurysms--histopathological findings.High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections.Catechol-O-methyltransferase gene polymorphisms are not associated with multisomatoform disorder in a group of German multisomatoform disorder patients and healthy controls.No association of CNR1 gene variations with susceptibility to schizophrenia.Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita.Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation.Augmentation index and the evolution of aortic disease in marfan-like syndromes.Interaction of the dopaminergic and serotonergic systems significantly influences the risk for multisomatoform disorder: a controlled pilot study.Naxos disease in an Arab family is not caused by the Pk2157del2 mutation. Evidence for exclusion of the plakoglobin gene.Origin of the prevalentSFTPBindel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiencyRenal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuriaGenetic influences in the formation of nasal polypsAlternative splicing in the first nucleotide binding fold of CFTR
P50
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P50
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