Sentences with phrase «primary ciliary»

Margret Casal, Assistant Professor of Medical Genetics, Univeristy of Pennsylvania; Epilepsy and Primary Ciliary Dyskenesia in the Irish Wolfhound

Introduction: Primary ciliary dyskinesia (PCD), previously called immotile cilia syndrome (ICS), is a divers group of inherited structural and functional abnormalities affecting the cilia of the respiratory tract mucosa and other organs which results mainly in recurrent respiratory tract infections.

Transmission electron microscopy analysis of sampled ciliated cells and of ciliated cells after ciliogenesis confirmed the diagnosis of primary ciliary dyskinesia.

Primary Ciliary Dyskinesia (PCD) is an inherited disorder characterized by recurrent infections of the upper and lower respiratory tract, reduced fertility in males and situs inversus, a transposition of internal organs resulting in a mirror image of the normal placement of the heart and lungs and sometimes other organs, in about 50 % of affected individuals (Kartagener syndrome).

ANTAGENE, a DNA research laboratory in France, offers a DNA test that detects the mutation that causes Primary Ciliary dyskinesia in Old English Sheepdog.

All of these results are highly suggestive of primary ciliary dyskinesia (PCD).

Risk analysis for seizures in the IW, as well as for PRA (progressive retinal atrophy) & PCD (primary ciliary dyskensia), is now available to breeders as a tool for decision making in their breeding programs.

In addition to the four required tests, OESCA recommends testing and reporting cardiac screening, BAER (hearing) testing, and DNA tests for Multiple Drug Sensitivity (MDR1 mutation), Primary Ciliary Dyskinesia (PCD), and Cerebellar Degeneration.

U-M also offers special expertise in caring for rare respiratory disorders including primary ciliary dyskinesia and interstitial lung disease.

Meanwhile, another team — reporting in Science Express today — has described the entire genome sequences of a mother and father (both healthy) and their two children, both of whom have two inherited disorders: Miller syndrome and primary ciliary dyskinesia.

«First patient registry launched for rare lung disease, primary ciliary dyskinesia (PCD).»

The first international patient registry has been launched for primary ciliary dyskinesia (PCD)-- a rare lung disease causing long - term and recurring respiratory infections, with no approved treatments and no cure.

Both offspring in this family have two recessive disorders: Miller syndrome, for which the gene was concurrently identified, and primary ciliary dyskinesia, for which causative genes have been previously identified.

Not exact matches

Primary lens luxation (PLL) is not a disease of the lens itself, but rather an inherited deterioration of the lens suspensory apparatus, the zonule, which is a system of fibres that suspend the lens from the ciliary body, maintaining it within the visual axis and in contact with the anterior surface of the vitreous body.