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

Papers overview

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Review
2017
Review
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
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
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
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
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
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
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
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
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
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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