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Proband (finding)

Known as: proband, probands 
National Institutes of Health

Related topics

Related topics

5 relations
Genetic screening methodPropositaPropositusfamily genetics

Papers overview

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Highly Cited
2011
Highly Cited
2011
Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy.
OBJECTIVE To characterize a novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. DESIGN… 
Highly Cited
1999
Highly Cited
1999
Evidence for bilineal inheritance of physiological indicators of risk in childhood-onset schizophrenia.
Childhood-onset schizophrenia is proposed to be associated with increased genetic loading compared with adult-onset schizophrenia… 
Highly Cited
1998
Highly Cited
1998
Saccadic eye movements in families multiply affected with schizophrenia: the Maudsley Family Study.
OBJECTIVE Family studies have shown that abnormalities of smooth pursuit eye movement are increased in the adult relatives of… 
Highly Cited
1995
Highly Cited
1995
Characteristics and significance of untreated major depressive disorder.
OBJECTIVE This study sought to describe the characteristics and consequences of untreated major depressive disorder. METHOD As… 
Review
1987
Review
1987
Etiologic heterogeneity in alcoholism
Etiologic heterogeneity in alcohol abuse was evaluated in 195 extended pedigrees, comprising 288 nuclear families of 140 male and… 
Highly Cited
1983
Highly Cited
1983
An inherited polymorphism in the human apolipoprotein A-I gene locus related to the development of atherosclerosis
Epidemiological studies have identified elevated low density lipoprotein (LDL)1–3 and diminished high density lipoprotein (HDL… 
Highly Cited
1982
Highly Cited
1982
Psychotic features in major depression. Is mood congruence important?
Highly Cited
1974
Highly Cited
1974
Electrophoretic and kinetic studies of mutant erythrocyte pyruvate kinases.
Thin-layer polyacrylamide electrophoresis and kinetic studies were used to differentiate three different mutant erythrocyte… 
Highly Cited
1968
Highly Cited
1968
Heterogeneity in Genetic Control of Phenylalanine Metabolism in Man
A HEPARINIZED blood sample was obtained from the antecubital vein just before the noon meal from twenty-five unrelated normal… 
Highly Cited
1965
Highly Cited
1965
The relation of focal to diffuse epileptiform EEG dischares in genetic epilepsy.
A CROSS-SECTIONAL, controlled study of 40 families, one member each of which presented with focal "temporal lobe" epilepsy, has… 
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