P02.21: Acrania-the same phenotypic expression caused by different etiological factors
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چکیده
منابع مشابه
Beckwith–Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene
Genomic imprinting is an epigenetically regulated mechanism leading to parental-origin allele-specific expression. Beckwith-Wiedemann syndrome (BWS) is an imprinting disease related to 11p15.5 genetic and epigenetic alterations, among them loss-of-function CDKN1C mutations. Intriguing is that CDKN1C gain-of-function variations were recently found in patients with IMAGe syndrome (intrauterine gr...
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Recent studies have demonstrated the association between ED and cardiovascular diseases Zambon, 2010; Bal, 2007. Ultrasensible C Reactive Protein (CRP) is an early marker of cardiovascular risk, and patients with ED have higher levels of CRP. Risk factors such as hypertension, smoking, obesity, diabetes mellitus, metabolic syndrome and sedentary lifestyle are pretty common in patients with coro...
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The Dutch healthcare sector has seen many major changes lately: the introduction of a new health insurance scheme, a shift from supply-based healthcare to a demand-based system and a trend towards increasingly assertive patients. This requires a new approach to the education and training of future doctors. How is this approach implemented in practice and how do the changes affect medical studen...
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Background: Stroke is one of the most important causes of disability-adjusted life years lost. Low socioeconomic status is associated with increased stroke-related morbidity and mortality. Objective: This study aimed to investigate in-hospital mortality rate caused by severe cases of ischemic and hemorrhagic stroke and its relationship with patients’ socioeconomic status. Materials and Method...
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Parallel patterns of adaptive divergence and speciation are cited as powerful evidence for the role of selection driving these processes. However, it is often not clear whether parallel phenotypic divergence is underlain by parallel genetic changes. Here, we asked about the genetic basis of parallel divergence in the marine snail Littorina saxatilis, which has repeatedly evolved coexisting ecot...
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ژورنال
عنوان ژورنال: Ultrasound in Obstetrics and Gynecology
سال: 2006
ISSN: 0960-7692
DOI: 10.1002/uog.3453