Genotype-phenotype correlation of hereditary erythrocytosis mutations, a single center experience

Genotype-phenotype correlation of mouse pde6b mutations.

PURPOSE To identify the underlying molecular defects causing retinal degeneration in seven N-ethyl-N-nitrosourea (ENU) induced mutant alleles of the Pde6b gene and to analyze the timescale of retinal degeneration in these new models of retinitis pigmentosa. METHODS Conformation sensitive capillary electrophoresis and DNA sequencing were used to identify the mutations in the Pde6b gene. Visual...

Genotype Pattern of Pediatric Familial Mediterranean Fever in Jordan: A Single Center Experience

Background Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder caused by mutations in the MEFV gene. The disease is especially common among Mediterranean ancestry, mostly Armenian, Turkish, Jewish and Arab populations. We aimed to describe genotype pattern of FMF in the Jordanian children and to compare it with other populations. Materials and Methods A retros...

Original articles Genotype-phenotype correlation in hereditary multiple exostoses

Hereditary multiple exostoses (HME) is a genetically heterogeneous autosomal dominant disorder characterised by the development of bony protuberances mainly located on the long bones. Three HME loci have been mapped to chromosomes 8q24 (EXT1), 11p11-13 (EXT2), and 19p (EXT3). The EXT1 and EXT2 genes encode glycosyltransferases involved in biosynthesis of heparan sulphate proteoglycans. Here we ...

Fetal Echocardiography Indications: A Single- Center Experience

Background Congenital heart disease (CHD) is the most common lethal congenital anomaly. Early diagnosis of CHD by fetal echocardiography based on maternal and fetal indications is important and lifesaving. The aim of study was to assess the referral aspects of pregnant women to pediatric cardiologist. Materials and Methods This was a retrospective cross-sectional study on 250 documents of refer...

Chromosome Duplication (14q) and The Genotype Phenotype Correlation