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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

Semantic Scholar uses AI to extract papers important to this topic.
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… 
Highly Cited
1997
Highly Cited
1997
Familial intracranial aneurysms
Review
1997
Review
1997
Chromosome 22q1l Deletion Syndrome: An Update and Review for the Primary Pediatrician
Chromosome 22ql1 deletion syndrome is a relatively newly described syndrome that encompasses the majority of patients previously… 
Highly Cited
1994
Highly Cited
1994
Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p.
In a family with autosomal dominant cystoid macular dystrophy (DCMD) linkage was detected with the dinucleotide marker D7S435 on… 
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
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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