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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
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
1998
Highly Cited
1998
Linkage of a QTL Contributing to Normal Variation in Bone Mineral Density to Chromosome 11q12–13
Osteoporosis is a leading public health problem that is responsible for substantial morbidity and mortality. A major determinant… 
Highly Cited
1997
Highly Cited
1997
Familial intracranial aneurysms
Highly Cited
1996
Highly Cited
1996
Ligand-independent Activation of Fibroblast Growth Factor Receptors by Point Mutations in the Extracellular, Transmembrane, and Kinase Domains*
The fibroblast growth factor receptors (FGFRs) are a family of receptor protein tyrosine kinases that have been shown to mediate… 
Highly Cited
1993
Highly Cited
1993
Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis.
A 1.5 Mb duplication within 17p11.2 is the major mutation causing both autosomal dominant and sporadic Charcot-Marie-Tooth… 
Highly Cited
1991
Highly Cited
1991
Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis.
Retinitis pigmentosa (RP) is a group of disorders characterized by progressive degeneration of the outer retina, resulting in… 
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
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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