نتایج جستجو برای: familial aggregation
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Background: It is well established that the people with elevated SBP, DBP, BMI and WHR are more prone to cardiovascular disease. However, very few studies have focused on the amount of familial aggregation and heritability of these cardiovascular risk factors in Indian population. Therefore, purpose of this study was to investigate the familial aggregation of blood pressures with respect to cer...
BACKGROUND AND OBJECTIVES Familial aggregation has been recognized in patients with several lymphoid neoplasms, but the genetic basis for this familial clustering is not known. Germ-line mutations in the ataxia-telangiectasia mutated (ATM) and CHK2 genes have been detected in patients with mantle cell lymphoma (MCL), suggesting a potential role of these genes in genetic predisposition to these ...
UNLABELLED Familial aggregation analysis is the first fundamental step to perform when assessing the extent of genetic background of a disease. However, there is a lack of software to analyze the familial clustering of complex phenotypes in very large pedigrees. Such pedigrees can be utilized to calculate measures that express trait aggregation on both the family and individual level, providing...
Two families with familial exudative vitreoretinopathy were studied in which platelet aggregation defects were found in all the affected members. The major defect observed was absent platelet aggregation with arachidonic acid. In addition platelet aggregation with collagen and adrenaline was reduced in one severely affected member. The implication of the platelet aggregation defect in the patho...
It has been reported that germline mutations in the palladin gene (PALLD) cause the familial aggregation of pancreatic cancer, but the evidence is weak and controversial. We sequenced the coding regions of PALLD in 48 individuals with familial pancreatic cancer. We did not find any deleterious mutations and find no evidence to implicate mutations in PALLD as a cause of familial pancreatic cancer.
Absolute pitch (AP) is a behavioral trait that is defined as the ability to identify the pitch of tones in the absence of a reference pitch. AP is an ideal phenotype for investigation of gene and environment interactions in the development of complex human behaviors. Individuals who score exceptionally well on formalized auditory tests of pitch perception are designated as "AP-1." As described ...
CONTEXT Pyloric stenosis is the most common condition requiring surgery in the first months of life. Case reports have suggested familial aggregation, but to what extent this is caused by common environment or inheritance is unknown. OBJECTIVES To investigate familial aggregation of pyloric stenosis from monozygotic twins to fourth-generation relatives according to sex and maternal and patern...
UNLABELLED Except for smoking and certain occupational exposures, the etiology of bladder cancer is largely unknown. Several case reports have described familial aggregation of transitional cell carcinoma of the bladder. Although the majority of patients with bladder cancer do not have family history of transitional cell carcinoma of the urinary tract, the study of familial transitional cell ca...
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