RATIONALE: Autosomal-dominant hypercholesterolemia (ADH) is characterized by elevated low-density lipoprotein cholesterol levels and increased risk for coronary vascular disease [ncbi.nlm.nih.gov]

Severe hypercholesterolemia associated or not with xanthomas in a child may suggest the diagnosis of homozygous autosomal dominant hypercholesterolemia (ADH), autosomal recessive [ncbi.nlm.nih.gov]

Familial hypercholesterolemia (FH) is an inherited disorder of lipoprotein metabolism, transmitted in an autosomal dominant manner and clinically characterized by elevated [clinicaltrials.gov]

Abstract Five patients with autosomal dominant ichthyosis vulgaris (ADI) were studied to see whether the abnormal keratinization was associated with disturbances of the appearance [ncbi.nlm.nih.gov]

Wells RS, Kerr CB (1966) Clinical features of autosomal dominant and sex-linked ichthyosis in an English population. [link.springer.com]

This condition is inherited in an autosomal dominant pattern. [monarchinitiative.org]

Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol [ncbi.nlm.nih.gov]

Abstract Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol [dx.doi.org]

HeFH is an autosomal dominant disorder; if one inherits the mutated gene that causes high cholesterol levels from only one parent, HeFH will be inherited. [patientworthy.com]

In this autosomal dominant disease, the concentration of plasma low-density lipoprotein cholesterol (LDL-C) is strongly elevated since birth. [mdpi.com]

As a genetic condition, it runs in the family–specifically, FH is an autosomal dominant genetic disorder, meaning that only one parent needs to have the condition for his [thefhfoundation.org]

English familial adenomatous polyposis autosomal dominant disease that is has material basis in mutations in the APC gene and involves formation of numerous polyps in the [wikidata.org]

Familial adenomatous polyposis is a rare autosomal dominant intestinal syndrome with a high rate of malignant transformation. [ncbi.nlm.nih.gov]

The syndrome is inherited by an autosomal dominant gene, the adenomatous polyposis coli (APC) gene. [ncbi.nlm.nih.gov]

Summary Currarino syndrome is a rare autosomal dominant disorder and the human homeobox gene, HLXB9, is the major causative locus. [jmg.bmj.com]

Lynch syndrome (hereditary non-polyposis colorectal cancer; HNPCC) is an autosomal dominant cancer predisposition syndrome with high penetrance. [ncbi.nlm.nih.gov]

Lynch syndrome is an autosomal-dominant cancer syndrome that can be identified with microsatellite instability molecular tests or immunohistochemical stains on pathologic [ncbi.nlm.nih.gov]

dominant manner? [orthobullets.com]

(OBQ12.20) Which of the following radiographs (Figures A-E) is consistent with a disorder that is inherited in an autosomal-dominant inheritance pattern? [orthobullets.com]

Risk factors Inheritance is autosomal dominant, with near-complete penetrance. [patient.info]

Acanthosis nigricans has been described in several autosomal dominant skeletal dysplasia syndromes due to germline FGFR3 mutations, but rarely specifically in patients with [ncbi.nlm.nih.gov]

Unilateral acanthosis nigricans Unilateral acanthosis nigricans, sometimes referred to as nevoid acanthosis nigricans, is believed to be inherited as an autosomal dominant [emedicine.com]

dominant fashion with variable phenotypic penetrance. [emedicine.com]

This report describes the novel sampling of autosomal dominant polycystic kidney disease (ADPKD) combined with hypertrophic cardiomyopathy (HCM). [ncbi.nlm.nih.gov]

Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease with variable clinical features that is inherited as autosomal dominant with variable penetrance [ncbi.nlm.nih.gov]

Autosomal dominant disorders that present in the young with LVH include Noonan's syndrome. [patient.info]

This is the third reported autosomal-dominant locus for RLS and the first autosomal-dominant RLS locus in the French-Canadian population. [ncbi.nlm.nih.gov]

This is the second RLS locus identified so far and the first consistent with an autosomal dominant inheritance pattern. [doi.org]

They detected an autosomal-dominant locus mapping to chromosome 20p13, with a maximum multipoint lod score of 3.86 at marker D20S849. [ncbi.nlm.nih.gov]