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… (More)
National Institutes of Health

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

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Review
2017
Review
2017
Hypophosphatasia: An overview For 2017.
Hypophosphatasia (HPP) is the inborn-error-of-metabolism that features low serum alkaline phosphatase (ALP) activity… (More)
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Highly Cited
2006
Highly Cited
2006
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
We report duplication of the APP locus on chromosome 21 in five families with autosomal dominant early-onset Alzheimer disease… (More)
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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… (More)
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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… (More)
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Highly Cited
2000
Highly Cited
2000
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23
Proper serum phosphate concentrations are maintained by a complex and poorly understood process. Identification of genes… (More)
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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… (More)
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Highly Cited
2000
Highly Cited
2000
Mutations in SDHC cause autosomal dominant paraganglioma, type 3
Nonchromaffin paragangliomas (PGLs) are usually benign, neural-crest–derived, slow-growing tumours of parasympathetic ganglia… (More)
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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… (More)
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Highly Cited
1994
Highly Cited
1994
Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction.
BACKGROUND Improvements in screening techniques have made significant contributions to the early detection of breast cancer… (More)
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Highly Cited
1993
Highly Cited
1993
Autosomal dominant polycystic kidney disease.
Case History: A 45-year-old female presented with vague pain in the abdomen. A USG was ordered, which revealed that both kidneys… (More)
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