نتایج جستجو برای: linked genetic disease
تعداد نتایج: 2159503 فیلتر نتایج به سال:
wiskott-aldrich syndrome (was) is a life-threatening x-linked recessive immunodeficiency disease described as a clinical triad of thrombocytopenia, eczema, and recurrent infections, caused by mutations of the was protein (wasp) gene. the milder form of this disease is x-linked thrombocytopenia (xlt) that presents only as platelet abnormalities. mutation analysis for 15 boys with wiskott-aldr...
conclusions in the chinese han population that we studied, nafld patients who carry the tnf-α-238 ga polymorphism have an increased risk of developing cad. mechanisms underlying this potentially important association require further investigation. background cardiovascular events account for the main cause of death in patients with non-alcoholic fatty liver disease (nafld), and are largely infl...
A large pedigree with autosomal dominant frontotemporal dementia has been identified. Positional cloning has linked the disease gene to the pericentromeric region of chromosome 3. Clinical, neuropsychological, imaging, pathological and molecular genetic data are presented. The genetic mutation responsible for the disease has not been identified.
Paget disease is a common bone disease characterized by abnormal osteoclasts that are large, multinucleated, and overactive and that contain paramyxovirus-like nuclear inclusions. There is evidence for a major genetic component to Paget disease, with up to 40% of patients having affected first-degree relatives; however, the locus (loci) and gene(s) involved are unknown. Another bone disorder, f...
muscular dystrophies are inherited disorders that cause progressive muscle weakness (myopathy) and atrophy (loss of muscle mass) due to defects in one or more genes required for normal muscle function. some of the genes responsible for these conditions have been identified .there are a number of different types of muscular dystrophy. the primary symptom for most types is muscle weakness, althou...
Schizophrenia is a highly heritable psychotic disorder and high genetic loading is associated with early onset of the disease. The outcome of schizophrenia has also been linked with the age of onset as well as the presence of family history of the disease. Therefore families with patients with early onset Schizophrenia are subpopulations for genetic studies. We present 2 families with heavy gen...
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