نتایج جستجو برای: turner
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The aim of this study was to examine executive function (EF) skills in girls with fragile X or Turner syndrome, using the Contingency Naming Test (CNT). The CNT is a Stroop-like task involving a 1- or 2-attribute contingency rule. We predicted that girls with fragile X would make errors reflecting poor cognitive flexibility and working memory limitations. We predicted that girls with Turner syn...
Two types of gynecologic tumors are commonly described in the Turner syndrome, the first one is gonadoblastoma, which occurs in patients with Y chromosome abnormalities, and the second one is endometrial carcinoma which is mostly related with exogenous estrogen usage. Here, we describe an extremely rare case of squamous cell carcinoma of the vulva in a virgin woman with Turner syndrome. A 35-ye...
Background: Turner syndrome (TS) is a sporadic disorder caused by the absence of all or some parts one X-chromosome with major developmental consequences such as short stature and ovarian failure etc. The minor manifestations of TS are cubitus valgus, micrognatism, high-arched palate, short and/or webbed neck, hypothyroidism, etc. Different karyotype abnormalities may lead to different clinical...
Turner syndrome is caused by loss of all or part of an X chromosome in females. A series of recent studies has characterized phenotypic differences between Turner females retaining the intact maternally inherited versus paternally inherited X chromosome, which have been interpreted as evidence for effects of X-linked imprinted genes. In this study I demonstrate that the differences between Turn...
The Medical Journal of Australia ISSN: 0025-729X 7 June 2004 180 11 584-584 ©The Med ical Jou rnal of Aus tral ia 2004 www.mja.com.au Snapshot CARDIOVASCULAR MALFORMATIONS occur in up to 47% of women with Turner syndrome. Aortic dissection, a devastating and often fatal condition, occurs more frequently in women with Turner syndrome than in the general population (0.8% v 0.00001%), particularly...
Turner syndrome, a congenital condition that affects ∼1/2,500 births, results from absence or structural alteration of the second sex chromosome. There has been substantial effort by numerous clinical and genetic research groups to delineate the clinical, pathophysiological, cytogenetic, and molecular features of this multisystem condition. Questions about the molecular-genetic and biological b...
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CONTEXT Several studies have demonstrated a higher prevalence of celiac disease (CD) among females with Turner syndrome when compared to the general population. Nevertheless, there is no record in literature concerning this investigation among Brazilian patients. OBJECTIVE To assess the prevalence of CD among a group of Brazilian patients with Turner syndrome. METHODS Fifty-six females with...
Cardiovascular disease is the major factor that reduces lifespan in Turner syndrome. High blood pressure (BP) is common in Turner syndrome and is the most easily treatable cardiovascular risk factor. We studied the prevalence of elevated screening systemic BP, awareness of the problem, and its clinical associations in a large group of girls attending the annual meeting of the Turner Syndrome So...
Hall-Mairesse-Turner June 2005 2 Identifying Age, Cohort and Period Effects in Scientific Research Productivity: Discussion and Illustration Using Simulated and Actual Data on French Physicists 1 Bronwyn H. HALL, Jacques MAIRESSE, and Laure TURNER
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