An individual's genetic liability is composed of disease-related genetic traits accumulated from their ethnic background and unique family history. Population statistics estimate that the average healthy person carries 5 to 8 gene alterations associated with reces- sive genetic disorders.1 Even when ...
of the disease. After the clinician has excluded other known causes of heart muscle disease (hypertension, ischemia, drugs such as anthracyclines that may damage the myocardium, myocarditis, etc.), the family history has a critical role in the determination of a genetic origin of the disease. ...
Patients with a worrying family history should be referred to specialist genetic clinics who can stratify their risk using various assessment tools, such as Myriad 1/2, the Manchester scoring system or BRCAPRO. Individuals shown to have a high risk of being a gene carrier can be referred to ...
There are many reasons to consider getting a genetic test. Forexample, you might decide to undergo a genetic test if you:have signs of a disease;think you may have an increased risk to get a disease in the future;think you might pass a disease on to your children; orare pregnant and ...
The carrier testing, genetic counseling and prenatal diagnosis have become an integrated part of the comprehensive care for hemophilia, but quality of life... A Torres-Ortuo - 《Blood Coagulation & Fibrinolysis》 被引量: 0发表: 2020年 加载更多来源...
Variation in the gene encoding dysbindin-1 (i.e., dystrobrevin-binding protein 1: DTNBP1) has frequently been associated with schizophrenia. Several studies have also found that dysbindin-1 gene and protein expression are altered in two affected brain ar
Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet. 2006;14:1074–1081. CAS PubMed Google Scholar Poli MC, Ebstein F, Nicholas SK, et al. Heterozygous truncating variants in POMP escape nonsense-mediated decay and cause a unique immune dysregulatory ...
We performed whole exome sequencing to identify an unknown genetic cause of azoospermia and male infertility in a large Pakistani family. Three infertile males were subjected to semen analysis, hormone testing, testicular histology, ultrasonography, kary
More than half of HL cases result from genetic etiology, with 70% exhibiting Mendelian monogenic inheritance patterns [2, 3]. Various forms of HL arise from alterations in certain genes (also known as pleiotropy), which can significantly impact the severity of the disease. Nevertheless, autosomal...
A large degree of congruence Family communication about genetic risk A Metcalfe et al Search terms: Truncations of communication and words relating to family (family, child and adolescent) were searched with truncations of genetic and chronic (with illness, disease and condition) and with the ...