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3 results on '"Familial diseases -- Physiological aspects -- Genetic aspects"'

1. Familial sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene. (Letter to JMG)

Author

Hoglund, P., Kurotaki, N., Kytola, S., Miyake, N., Somer, M., and Matsumoto, N.

Subjects
Physiological aspects, Genetic aspects, Syndromes -- Genetic aspects -- Physiological aspects, Familial diseases -- Physiological aspects -- Genetic aspects, Gigantism -- Genetic aspects -- Physiological aspects
Abstract

Sotos syndrome (SS) or cerebral gigantism (OMIM *117550) is characterised by excessive growth, advanced bone age, typical facial gestalt, and developmental delay. (1,2) In infancy growth is rapid, but settles [...]

Published
2003

2. Relation between QT duration and maximal wall thickness in familial hypertrophic cardiomyopathy. (Cardiovascular Medicine)

Author

Jouven, X., Hagege, A., Charron, P., Carrier, L., Dubourg, O., Langlard, J.M., Aliaga, S., Bouhour, J.B., Schwartz, K., Desnos, M., and Komajda, M.

Subjects
Physiological aspects, Genetic aspects, Familial diseases -- Physiological aspects -- Genetic aspects, Hypertrophic cardiomyopathy -- Genetic aspects -- Physiological aspects, Cardiomyopathy, Hypertrophic -- Genetic aspects -- Physiological aspects
Abstract

Background: QT abnormalities have been reported in left ventricular hypertrophy and hypertrophic cardiomyopathy. Objective: To determine the relation between left ventricular hypertrophy and increased QT interval in familial hypertrophic cardiomyopathy. [...]

Published
2002

3. Characteristics of genetic predisposition

Author

White, R.

Subjects
Physiological aspects, Genetic aspects, Cancer genetics -- Genetic aspects -- Physiological aspects, Disease susceptibility -- Genetic aspects -- Physiological aspects, Familial diseases -- Physiological aspects -- Genetic aspects, Cancer -- Genetic aspects
Abstract

AUTHORS: R. White. U.S. National Institutes of Health, Bethesda, Maryland. According to an abstract submitted by the author to the General Motors Cancer Research Foundation Scientific Conference entitled Genetic Predisposition [...]

Published
1994

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