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Article
The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population
Connexin 26 (GJB2) mutations lead to hearing loss in a significant proportion of all populations studied so far, despite the fact that at least 50 other genes are also associated with hearing loss. The entire co...
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Article
Evaluation of human chorionic gonadotropin stimulation tests in prepubertal and early pubertal boys
We evaluated the diagnostic significance of single versus repeated human chorionic gonadotropin (hCG) stimulation of testicular steroidogenesis in 25 boys (10 prepubertal group A; 15 early pubertal, group B) w...
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Article
Ataxia-telangiectasia: Linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome
Ataxia-telangiectasia (A-T) is a progressive autosomal recessive disease featuring neurodegeneration, immunodeficiency, chromosomal instability, radiation sensitivity and a highly increased proneness to cancer...
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Article
Cardiac involvement in glycogen storage disease type III
Twenty patients with enzymatically proven glycogen storage disease type III (GSD III) aged 3–30 years underwent cardiological evaluation. Seventeen showed subclinical evidence of cardiac involvement in form of...
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Article
Linkage studies do not confirm the cytogenetic location of incontinentia pigmenti on Xp11
Linkage studies have been performed in 5 incontinentia pigmenti (IP) families totaling 29 potentially informative meioses. Ten probes of the Xp arm were used, six of them were precisely localized on the X chro...
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Article
FAMILIAL HYPERTHYROIDISM DUE TO INAPPROPRIATE TSH SECRETION: A SEX LINKED DOMINANT TRAIT
Studies in 2 non-related Sephardic Jewish families, one of which extended over 5 generations, revealed 9 females with clinical and/or biochemical hyperthyroidism due to inappropriate TSH secretion. Age at diag...
