نتایج جستجو برای: insensitivity syndrome
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We appreciate Balsamo and colleagues’ interest [1] in our recent paper [2] about a case of complete androgen insensitivity syndrome (CAIS). We are grateful for their insightful comments and the opportunity to clarify a number of elements from our work. Since many of the opinions expressed in their letter are based on biased interpretation of data, we would like to point-to-point answer their qu...
it was shown that permethrin resistance in adult anopheles stephensi is due to at least three separate mechanisms. cytochrome p-450s and esterases are responsible for two-thirds of the 8-fold enhanced tolerance of the dub-apr resistant strain as compared with a sensitive strain, ind-s. it was postulated that target site insensitivity is also involved. to test this hypothesis, we conducted a neu...
Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome
Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in women of reproductive age, and it is a multifactorial polygenic disorder with a broad spectrum of clinical manifestations. Although pathogenesis is still unclear, androgen receptor (AR) gene polymorphism may be one of the etiologic factors of PCOS. AR gene polymorphism has been also associated with other forms of ...
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM #607721) has been recently related to the invariant c.4A > G missense change in SHOC2. It is characterized by features reminiscent of Noonan syndrome. Ectodermal involvement, short stature associated to growth hormone (GH) deficiency (GHD), and cognitive deficits are common features. We compare in two patients with molecularly confirmed ...
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