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Altered Apoptotic Profiles in Irradiated Patients with Increased Toxicity
(Elsevier Science Inc, 1999)
Purpose: A retrospective study of radiation-induced apoptosis in CD4 and CD8 T-lymphocytes, from 12 cancer patients who displayed enhanced toxicity to radiation therapy and 9 ataxia telangiectasia patients, was performed ...
Heterogeneous Spectrum Of Mutations In The Fanconi Anaemia Group A Gene
(Stockton Press, 1999)
Fanconi anaemia (FA) is a genetically heterogeneous autosomal recessive disorder associated with chromosomal fragility, bone-marrow failure, congenital abnormalities and cancer. The gene for complementation group A (FAA), ...
Effect of Formoterol on Clinical Parameters and Lung Functions in Patients With Bronchial Asthma: A Randomised Controlled Trial
(British Med Journal Publ Group, 1999)
Aims-To determine the role of formoterol in the treatment of children with bronchial asthma who are symptomatic despite regular use of inhaled corticosteroids. Methods-A randomised, double blind, parallel group, placebo ...
Fish Studies In 45 Patients With Rubinstein-Taybi Syndrome: Deletions Associated With Polysplenia, Hypoplastic Left Heart And Death In Infancy
(Nature Publishing Group, 1999)
Rubinstein-Taybi syndrome (RTS) is a dominant Mendelian disorder characterised by mental retardation, a typical facies, broad thumbs and short stature. Previous reports indicated that 4-25% of RTS patients have a submicroscopic ...
Calpainopathy - A Survey of Mutations and Polymorphisms
(Cell Press, 1999)
Limb-girdle muscular dystrophy-type 2A (LGMD2A) is an autosomal recessive disorder characterized mainly by symmetrical and selective atrophy of the proximal limb muscles. It derives, from defects in the, human CAPN3 gene, ...
Assignment of the Muscle-Eye-Brain Disease Gene to 1P32-P34 by Linkage Analysis and Homozygosity Mapping
(Univ Chicago Press, 1999)
Muscle-eye-brain disease (MEB) is an autosomal recessive disease of unknown etiology characterized by severe mental retardation, ocular abnormalities, congenital muscular dystrophy, and a polymicrogyria-pachygyria-type ...
Penetration of Topical, Oral, and Combined Administered Ofloxacin into the Subretinal Fluid
(Bmj Publishing Group, 1999)
Aims-To assess the subretinal fluid (SRF) levels of ofloxacin following topical, oral or combined administration. Methods-31 patients undergoing conventional retinal reattachment surgery were randomly assigned to three ...
Splicing Defects In The Ataxia-Telangiectasia Gene, Atm: Underlying Mutations And Consequences
(Cell Press, 1999)
Mutations resulting in defective splicing constitute a significant proportion (30/62 [48%]) of a new series of mutations in the ATM gene in patients with ataxia-telangiectasia (AT) that were detected by the protein-truncation ...
Wilms' Tumour-Associated Late Nephrotic Syndrome Responsive To Treatment
(Oxford Univ Press, 1999)
Serum Malondialdehyde Concentration in Babies with Hyperbilirubinaemia
(British Med Journal Publ Group, 1999)
Aim-To determine lipid peroxide concentrations in the first 10 days of life. Methods-Malondialdehyde concentrations were investigated in neonates with or without hyperbilirubinaemia during the first 10 days of life. ...