نتایج جستجو برای: linked recessive
تعداد نتایج: 255427 فیلتر نتایج به سال:
PURPOSE Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous retinal disorder. Despite tremendous knowledge about the genes involved in RP, little is known about the genetic causes of RP in Indonesia. Here, we aim to identify the molecular genetic causes underlying RP in a small cohort of Indonesian patients, using genome-wide homozygosity mapping. METHODS DNA samples from ...
Genodermatoses Ichthyosis This hereditary condition is characterized by hyperkeratosis or hypertrophy of the horny layers of the skin which is dry and scaly and looks dirty (Fig. 1). Besides dominant, autosomal recessive, and sex-linked recessive forms, ichthyosis also occurs in the SjogrenLarsson syndrome (ichthyosis, spasticity, and oligophrenia) and in Refsum's syndrome, a disturbance of lip...
Dyskeratosis congenita (DC) is a rare, inheritable disorder characterized by a triad of abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. Inheritance is mainly X-linked recessive; however, autosomal dominant and recessive forms have also been reported. Here, we report two cases of DC with distinct clinical presentations together with different genetic screening results, which ...
Families in which a single male is affected with a disease which might be either X linked recessive or autosomal recessive present problems in counselling. Before female relatives can be counselled, the probabilities of each mode of inheritance must be assessed, taking into account the prior probabilities, the pedigree structure, any DNA probe data, and any carrier testing data. The widely used...
The epidemiology of X-linked recessive diseases, a class of genetic disorders, is modeled with a discretetime, structured, mathematical model. The model accounts for both de novo mutations and different reproduction rates of procreating couples depending on their health conditions. Relying on Lyapunov theory, asymptotic stability properties of equilibrium points of the model are demonstrated. T...
I should like to review very briefly the various kinds of genetic damage that might be expected to occur from chemical mutagens, the time delay before such effects might be manifest, and something of the kind of impact that these might be expected to have on human well-being. I hardly need to add that this is an area where we know very little; we know enough to be apprehensive, but not enough t...
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