Ara
Toplam kayıt 180, listelenen: 61-70
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 ...
Indicators Of Nutritional Status In Turkish Preschool Children: Results Of Turkish Demographic And Health Survey 1993
(Oxford Univ Press United Kingdom, 1996)
The Turkish Demographic and Health Survey (TDHS), conducted in 1993, provided data on the magnitude of malnutrition in a sample of 3152 preschool children from five geographical regions, and on its causal and conditioning ...
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)