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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

Papers overview

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Review
2019
Review
2019
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 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
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
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
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
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
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
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
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
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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