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Autosomal dominant inheritance

Known as: Autosomal dominant, Autosomal dominant form, Autosomal dominant type 
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is… 
National Institutes of Health

Related topics

Related topics

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ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROMEAcropectoral syndromeBRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIESCAPOS syndrome

Papers overview

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Highly Cited
2002
Highly Cited
2002
suREJ3, a Polycystin-1 Protein, Is Cleaved at the GPS Domain and Localizes to the Acrosomal Region of Sea Urchin Sperm*
The sea urchin sperm acrosome reaction (AR) is a prerequisite for sperm-egg fusion. This report identifies sea urchin sperm… 
Highly Cited
2000
Highly Cited
2000
A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16
Objective: To use genetic linkage analysis to localize a gene for paroxysmal kinesigenic dyskinesia (PKD) in a three generation… 
Review
1998
Review
1998
A clinicogenetic analysis of six Indian spinocerebellar ataxia (SCA2) pedigrees. The significance of slow saccades in diagnosis.
Clinical revaluation and genetic analysis of six Indian pedigrees, segregating autosomal dominant cerebellar ataxia, slow… 
Highly Cited
1991
Highly Cited
1991
Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa.
Eight members of a family with autosomal dominant retinitis pigmentosa were found to have a cytosine-to-guanine (C-to-G… 
Highly Cited
1989
Highly Cited
1989
Polymorphic DNA haplotypes at the LDL receptor locus.
Mutations in the low-density lipoprotein (LDL) receptor gene result in the autosomal dominant disorder familial… 
Highly Cited
1988
Highly Cited
1988
Risk of dementia in relatives of patients with Alzheimer's disease
Using a family history questionnaire, we investigated the occurrence of dementia among relatives of patients with a clinical… 
Highly Cited
1977
Highly Cited
1977
Genetic regulation of UDP-glucuronosyltransferase induction by polycyclic aromatic compounds in mice. Co-segregation with aryl hydrocarbon (benzo(alpha)pyrene) hydroxylase induction.
Highly Cited
1972
Highly Cited
1972
H-2-LINKED IMMUNE RESPONSE (Ir) GENES
Two H-2-linked autosomal dominant immune response (Ir) genes Ir-IgG and Ir-IgA were demonstrated to be at separate loci. Ir-IgG… 
Highly Cited
1971
Highly Cited
1971
Genetic Aspects of Increase in Rat Liver Aldehyde Dehydrogenase Induced by Phenobarbital
In the supernatant fraction of homogenized rat liver, the activity of aldehyde dehydrogenase that is dependent on nicotinamide… 
Highly Cited
1969
Highly Cited
1969
Dominant retinitis pigmentosa with reduced penetrance.
A family with autosomal dominant retinitis pigmentosa showing reduced penetrance is described. Reduced penetrance is established… 
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