Biomedical subjects

W Reardon

Publications and source records attributed to W Reardon.

131 records · Page 8Linked to original sources

PubMed1990

Sex linked deafness: Wilde revisited.

Sex linked recessive deafness is a rare cause of male genetic deafness, estimated to account for 6.2% of male genetic deafness in 1966. A male excess was found in the deaf population of Ireland in 1851. Reevaluation of this survey of 1851 confirms sex linked deafness as a factor in the disproportionate number of deaf males and suggests that 5% of congenital male deafness was the result of sex linked recessive deafness. This study confirms that a small but constant proportion of male deafness is the result of sex linked recessive deafness. The figure derived is used to calculate an empirical risk for carrier status in female sibs of isolated cases of male deafness.

Deafness↗

PubMed1989

Central nervous system malformations in Mohr's syndrome.

A boy with severe developmental delay, bilateral, symmetrical hallucal duplication, and accessory alveolar frenula was found to have radiological evidence of a large arachnoid cyst compressing the cerebellum and brain stem. We review neurological abnormalities in Mohr's syndrome.

Abnormalities, Multiple↗

PubMedDate not supplied

Elastin mutation and cardiac disease.

Characterization of the molecular basis of structural cardiac disease includes elucidating the pathogenesis of certain vascular disease by demonstrating mutations of the Elastin gene as the cause of familial supravalvular aortic stenosis (SVAS) and Williams' syndrome (WS). Defining the etiology of SVAS has clinical implications in terms of prenatal and presymptomatic diagnosis and possible earlier intervention with medical therapy. This review considers the evidence relating Elastin mutations to SVAS and WS and outlines the possible mechanisms by which these mutations give rise to cardiac disease. Finally, the implications which Elastin mutation identification has on current clinical practice and future research directions are considered.

Aortic Valve Stenosis↗

PubMedDate not supplied

Genetics of deafness: clinical aspects.

In most single gene disorders, all patients with the disease phenotype have the same affected gene. However, phenotypic similarities in genetically deaf patients do not correlate well with mutations at the same genetic locus. This genetic heterogeneity has limited the influence of modern genetic practice in genetically deaf patients.

Audiometry↗

PubMedDate not supplied

Carrier detection for X-linked agammaglobulinaemia (Bruton type) in an Irish family using linked DNA probes.

Being an X-linked condition, the sisters of men with X-linked agammaglobulinaemia have a 50% risk of being carriers of the disease gene (provided the disease has not developed as a results of a new mutation). We demonstrate how this risk can be modified very significantly by DNA analysis using linked DNA probes. The value of such tests for genetic purposes is discussed.

Adult↗