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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… 
Highly Cited
1990
Highly Cited
1990
Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I…
A proband with a lethal variant of osteogenesis imperfecta (OI) has been shown to have, in one allele in a gene for type I… 
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
1987
Highly Cited
1987
Robust inference for variance components models in families ascertained through probands: I. Conditioning on proband's phenotype
A robust approach for estimating standard errors of variance components by using quantitative phenotypes from families… 
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… 
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