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Toplam kayıt 131, listelenen: 21-30
Mesoaxial Complete Syndactyly And Synostosis With Hypoplastic Thumbs: An Unusual Combination Or Homozygous Expression Of Syndactyly Type I?
(British Med Journal Publ Group, 1998)
Syndactyly type I is an autosomal dominant condition with complete or partial webbing between the third and fourth fingers or the second and third toes or both. We report here a previously undescribed phenotype of severe ...
Sequence Analysis and Homology Modeling Suggest That Primary Congenital Glaucoma on 2P21 Results From Mutations Disrupting Either the Hinge Region or The Conserved Core Structures of Cytochrome P4501B1
(Cell Press, 1998)
We recently reported three truncating mutations of the cytochrome P4501B1 gene (CYP1B1) in five families with primary congenital glaucoma (PCG) linked to the GLC3A locus on chromosome 2p21. This could be the first direct ...
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 ...
Von-Willebrand-Factor Antigen Compared With Other Factors In Vasculitic Syndromes
(British Med Journal Publ Group, 1994)
In order to analyse their role as a specific marker of vascular damage and their value in monitoring disease activity the plasma concentrations of von Willebrand factor antigen (vWFAg) and the ristocetin cofactor (RiCoF) ...
Wilms' Tumour-Associated Late Nephrotic Syndrome Responsive To Treatment
(Oxford Univ Press, 1999)
Identification Of A New Locus For A Peculiar Form Of Congenital Muscular Dystrophy With Early Rigidity Of The Spine, On Chromosome 1P35-36
(Univ Chicago Press, 1998)
Classical congenital muscular dystrophies (CMDs) are autosomal recessive neuromuscular disorders characterized by early onset of hypotonia and weakness, atrophy of limbs and trunk muscles, contractures, and dystrophic ...
Recognition of Cigarette Brand Names and Logos by Primary Schoolchildren in Ankara, Turkey
(British Med Journal Publ Group, 1998)
Objective-To assess the smoking behaviour of primary schoolchildren and their ability to recognise brand names and logos of widely advertised cigarettes, compared with other commercial products intended for children. ...
A Cross-Over Medication Trial For Patients With Autosomal-Dominant Hypertension With Brachydactyly
(Blackwell Science Inc, 1998)
We examined a family with autosomal-dominant hypertension and brachydactyly from northeastern Turkey. The hypertension was defined as severe, resulting in stroke before age 50 years, featuring normal renin, aldosterone, ...
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. ...