Found 19 datasets matching "genetic-disorder".
-
This dataset contains results of genetic screening for Poecivirus from samples of black-capped chickadees (BCCH; Poecile atricapillus) with and without clinical signs of avian keratin disorder...
Search relevance: 125.08 | Views last month: 0 -
Primary ciliary dyskinesia (PCD) is a genetic disorder of abnormal ciliary structure and function that leads to defective mucociliary clearance, resulting in oto-sino-pulmonary disease, and...
Search relevance: 92.95 | Views last month: 0 -
Asthma is a complex inflammatory disorder controlled by both genetic and environmental influences. Multiple genetic analyses have identified the T helper type 2 (Th2) cytokine gene cluster on...
Search relevance: 60.95 | Views last month: 1 -
Spontaneous premature ovarian failure presents most commonly with secondary amenorrhea. Young women with the disorder are infertile and experience the symptoms and sequelae of estrogen deficiency....
Search relevance: 58.81 | Views last month: 0 -
Nexviazyme (avalglucosidase alfa-ngpt) is an enzyme replacement therapy used to treat Pompe disease, a rare genetic disorder causing muscle weakness. It's administered intravenously as a powder...
Search relevance: 57.84 | Views last month: 0 -
Hypertrophic cardiomyopathy (HCM) is a dominant genetic disorder of the myocardium associated with dysfunctional contractile proteins. The major risk of HCM is sudden cardiac death, which may...
Search relevance: 57.61 | Views last month: 1 -
Osteoporosis (OP) and osteoarthritis (OA), the two most common age-related chronic disorders of articular joints and skeleton, represent a major public health problem in most developed countries....
Search relevance: 55.74 | Views last month: 1 -
VIMIZIM (elosulfase alfa) is an injectable enzyme replacement therapy used to treat Mucopolysaccharidosis Type IVA (Morquio A syndrome), a rare genetic disorder. It works by providing the missing...
Search relevance: 55.25 | Views last month: 0 -
Background To learn about the molecular etiology of strabismus, we are studying the genetic basis of 'congenital fibrosis of the extraocular muscles' (CFEOM). These syndromes are...
Search relevance: 52.39 | Views last month: 0 -
Interleukin-4 (IL-4) mediates important pro-inflammatory functions in asthma including induction of the IgE isotype switch, expression of vascular cell adhesion molecule-1 (VCAM-1), promotion of...
Search relevance: 48.33 | Views last month: 0 -
Cystic fibrosis is a genetic disease that is associated with abnormal sweat electrolytes, sino-pulmonary disease, exocrine pancreatic insufficiency, and male infertility. Insights into...
Search relevance: 46.04 | Views last month: 1 -
Background A systems approach to understanding the etiology of schizophrenia requires a theory which is able to integrate genetic as well as neurodevelopmental factors. ...
Search relevance: 45.80 | Views last month: 0 -
Background Recently, it has been suspected that there is a relationship between therapy with some antibiotics and the onset of autism; but even more curious, some children benefited...
Search relevance: 44.73 | Views last month: 3 -
Background Down syndrome is the most frequent genetic disorder in humans. Rare cases involving partial trisomy of chromosome 21 allowed a small chromosomal region common to all carriers,...
Search relevance: 41.00 | Views last month: 0 -
Background Multiple endocrine neoplasia type 2 is an autosomal dominant disorder. MEN 2A is characterized by medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism; MEN 2B...
Search relevance: 39.07 | Views last month: 0 -
Background Acute Intermittent Porphyria is a genetic disorder of heme metabolism, characterized by increased levels of porphyrin precursors, δ-aminolevulinic acid (ALA) and...
Search relevance: 39.05 | Views last month: 0 -
Mutational analysis of Peroxiredoxin IV: exclusion of a positional candidate for multinodular goitre
Background Multinodular goitre (MNG) is a common disorder characterised by an enlargement of the thyroid, occurring as a compensatory response to hormonogenesis impairment. The incidence...
Search relevance: 37.26 | Views last month: 0
