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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
2004
Highly Cited
2004
Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability.
Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is a common autosomal dominant syndrome… 
Highly Cited
2003
Highly Cited
2003
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an… 
Highly Cited
2002
Highly Cited
2002
TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling
Tuberous sclerosis (TSC) is an autosomal dominant disorder characterized by the formation of hamartomas in a wide range of human… 
Highly Cited
2001
Highly Cited
2001
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
Dyskeratosis congenita is a progressive bone-marrow failure syndrome that is characterized by abnormal skin pigmentation… 
Highly Cited
2000
Highly Cited
2000
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
Autosomal dominant optic atrophy (ADOA) is the most prevalent hereditary optic neuropathy resulting in progressive loss of visual… 
Highly Cited
1999
Highly Cited
1999
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of elbows and Achilles tendons, slowly… 
Highly Cited
1995
Highly Cited
1995
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
Some cases of Alzheimer's disease are inherited as an autosomal dominant trait. Genetic linkage studies have mapped a locus (AD3… 
Highly Cited
1995
Highly Cited
1995
Alzheimer-type neuropathology in transgenic mice overexpressing V717F β-amyloid precursor protein
ALZHEIMER'S disease (AD) is the most common cause of progressive intellectual failure in aged humans. AD brains contain numerous… 
Highly Cited
1995
Highly Cited
1995
Identification of the breast cancer susceptibility gene BRCA2
IN Western Europe and the United States approximately 1 in 12 women develop breast cancer. A small proportion of breast cancer… 
Highly Cited
1993
Highly Cited
1993
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
AMYOTROPHIC lateral sclerosis (ALS) is a degenerative disorder of motor neurons in the cortex, brainstem and spinal cord1,2. Its… 
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