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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… Expand
National Institutes of Health

Related topics

Related topics

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

Semantic Scholar uses AI to extract papers important to this topic.
Review
2019
Review
2019
OMIM.org: leveraging knowledge across phenotype–gene relationships
Abstract For over 50 years Mendelian Inheritance in Man has chronicled the collective knowledge of the field of medical genetics… Expand
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Review
2018
Review
2018
The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases
The Ca2+-sensing receptor (CaSR) is a dimeric family C G protein-coupled receptor that is expressed in calcitropic tissues such… Expand
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Review
2018
Review
2018
POLG-related disorders and their neurological manifestations
The POLG gene encodes the mitochondrial DNA polymerase that is responsible for replication of the mitochondrial genome. Mutations… Expand
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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… Expand
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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… Expand
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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… Expand
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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… Expand
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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… Expand
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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… Expand
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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… Expand
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