نتایج جستجو برای: dysgenesis
تعداد نتایج: 2586 فیلتر نتایج به سال:
Background: Disorders of sex development (DSDs) belong to uncommon pathologies and result from abnormalities during gonadal determination and differentiation. Various gene mutations involved in gonadal determination and differentiation have been associated with gonadal dysgenesis. Despite advances in exploration of genes and mechanisms involved in sex disorders, most children with severe 46,XY ...
Gonadal dysgenesis, a condition in which gonadal development is interrupted leading to gonadal dysfunction, is a unique subset of disorders of sexual development (DSD) that encompasses a wide spectrum of phenotypes ranging from normally virilized males to slightly undervirilized males, ambiguous phenotype, and normal phenotypic females. It presents specific challenges in diagnostic work-up and ...
Chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome due to n...
PURPOSE To determine whether there is a correlation among mutations in the cytochrome P450 1B1 gene (CYP1B1), the degree of angle dysgenesis observed histologically, and disease severity in congenital glaucoma. METHODS Direct DNA sequencing was utilized to screen six unrelated children with congenital glaucoma, each set of parents, and all siblings for CYP1B1 mutations. Specimens of the anter...
Anterior segment dysgenesis syndrome is an inherited ocular defect in Rocky Mountain Horses. The disease is Mendelian with semidominant inheritance. Heterozygous animals have ciliary cysts, and homozygous animals have complex anterior segment dysgenesis. Authors’ address: Depts. of Large Animal Clinical Sciences (Ewart) and Small Animal Clinical Sciences (Ramsey), D202 Veterinary Medical Center...
Comment. The first report of unilateral RPE dysgenesis was published in 2002. In this report, 3 young men and 1 woman aged 16 to 34 years were noted to have a round leopard-spot lesion contiguous with the optic nerve. In 2009, the typical characteristics of unilateral RPE dysgenesis were described in a set of 9 affected patients, 6 males and 3 females aged 14 to 42 years. The margin of the lesi...
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