نتایج جستجو برای: incomplete penetrance
تعداد نتایج: 61081 فیلتر نتایج به سال:
Incomplete intrinsic penetrance is the failure of some genetically susceptible individuals (e.g., monozygotic twins of those who have a trait) to exhibit that trait. For the first time, we examine penetrance of susceptibility genes for multiple MHC gene-determined traits in the same subjects. Serum levels of IgA, IgD, IgG3, but not IgG4, in 50 pairs of monozygotic twins discordant for type 1 di...
Mutations in LRRK2 represent the most common causes of Parkinson's disease (PD) identified to date, but their penetrance is incomplete and probably due to the presence of other genetic or environmental factors required for development of the disease. We analyzed the presence of parkin sequence variants (mutations or polymorphisms) and exon rearrangements in LRRK2 mutations carriers (both PD pat...
Hirschsprung disease (HSCR) is a complex disorder that exhibits incomplete penetrance and variable expressivity due to interactions among multiple susceptibility genes. Studies in HSCR families have identified RET-dependent modifiers for short-segment HSCR (S-HSCR), but epistatic effects in long-segment (L-HSCR) and syndromic cases have not been fully explained. SOX10 mutations contribute to sy...
introduction: the diagnosis of symptoms and the estimation of cancer risk in individuals are of great interest for research teams. several methods developed for estimation of the risk of cancer in the individuals exposed to risk. because of its capability to illustrate the correlation between genotype and phenotype, the kin-cohort method has become a method of choice for many researchers. this ...
The popliteal pterygium syndrome is a highly characteristic congenital malformation syndrome affecting the face, limbs, and genitalia. Gorlin et all 2 coined the term 'popliteal pterygium syndrome' on the basis of the most unusual anomaly, the popliteal web. In some publications the names of Fevre and Languepin3 are used as an eponym. A more descriptive term suggested for the condition, on the ...
Since its description in 1992, Brugada Syndrome has become the second cause of death among young adults in some countries1. The Brugada syndrome is an autosomal dominant disease with incomplete penetrance, which may cause syncope and sudden cardiac death in young individuals with a normal heart. It is characterized by an electrocardiographic (ECG) pattern of complete or incomplete right bundle ...
Proteins of the bone morphogenetic protein (BMP) family are known to have a role in ocular and skeletal development; however, because of their widespread expression and functional redundancy, less progress has been made identifying the roles of individual BMPs in human disease. We identified seven heterozygous mutations in growth differentiation factor 6 (GDF6), a member of the BMP family, in p...
Sudden cardiac death is defined as an unexpected decease of cardiac origin. In individuals under 35 years old, most of these deaths are due to familial arrhythmogenic syndromes of genetic origin, also known as channelopathies. These familial cardiac syndromes commonly follow an autosomal dominant pattern of inheritance. Diagnosis, however, can be difficult, mainly due to incomplete penetrance a...
C ongenital or paediatric cataract is a phenotypically and genetically heterogeneous disorder consisting of lens opacities in early life. Thirteen genes have been described for autosomal dominant congenital cataract (ADCC). These include genes for seven members of the crystallin family, 2 which are responsible for the refractive index and transparency of the lens, two connexin genes 4 and major...
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