Autosomal Dominant Disorder

An inherited disorder that manifests when one copy of a mutated gene is present.
National Institutes of Health

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Highly Cited
2009
Highly Cited
2009
Genome-wide association studies suggest that common genetic variants explain only a modest fraction of heritable risk for common… (More)
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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… (More)
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Highly Cited
2000
Highly Cited
2000
The acronym WHIM refers to Warts, Hypogammaglobulinemia, Infections, and Myelokathexis. The latter refers to the retention of… (More)
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Highly Cited
2000
Highly Cited
2000
Primary pulmonary hypertension (PPH), characterized by obstruction of pre-capillary pulmonary arteries, leads to sustained… (More)
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Highly Cited
2000
Highly Cited
2000
Familial primary pulmonary hypertension is a rare autosomal dominant disorder that has reduced penetrance and that has been… (More)
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Highly Cited
1997
Highly Cited
1997
OBJECTIVE To describe a multigenerational family with transmission of an autosomal dominant disorder characterized by pyogenic… (More)
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Highly Cited
1997
Highly Cited
1997
Alagille syndrome is an autosomal dominant disorder characterized by abnormal development of liver, heart, skeleton, eye, face… (More)
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Review
1995
Review
1995
A hereditary, androgen-driven disorder, androgenetic alopecia is the most common form of alopecia in humans: its prevalence is 23… (More)
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Highly Cited
1993
Highly Cited
1993
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder characterized by neurodegeneration of the cerebellum… (More)
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Highly Cited
1989
Highly Cited
1989
DELETIONS of muscle mitochondrial DNA (mtDNA) have recently been found in patients with mitochondrial myopathy1–3. However, as… (More)
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