نتایج جستجو برای: intestinal duplication
تعداد نتایج: 151450 فیلتر نتایج به سال:
Moyamoya disease is an idiopathic progressive steno-occlusive disorder of the intracranial arteries located at the base of the brain. It is associated with the development of compensatory extensive network of fine collaterals. Moyamoya disease is considered syndromic when certain genetic or acquired disorders such as polycystic kidney disease, neurofibromatosis, or meningitis are also present. ...
Single mutations in the ATP-binding cassette transporter (ABCC6) gene (OMIM 603234) are known to cause the rare autosomal recessive disease pseudoxanthoma elasticum (PXE). Recently, we have found that copy number variations (CNVs) in pseudogenes of the ABCC6 gene are quite common. The aim of this study was to investigate the frequency and possible contribution of CNV in ABCC6 and its pseudogene...
OBJECTIVE This study describes the frequency of sonographically detected fetal renal disorders, the correlation of fetal renal pelvis dilatation (RPD) with the need for postnatal surgery, and proposed management of RPD. METHODS The study population consisted of 342 fetuses with prospectively identified isolated renal abnormalities and known follow-up. Fetuses with RPD were considered separate...
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