نتایج جستجو برای: congenital variations
تعداد نتایج: 305990 فیلتر نتایج به سال:
A knowledge of the variations of renal vascular anatomy has importance in exploration and treatment of renal trauma, renal transplantation, renovascular hypertension, renal artery embolization, angioplasty or vascular reconstruction for congenital and acquired lesions, surgery for abdominal aortic aneurysm and conservative or radical renal surgery (Sampaio & Aragão,1990; Satyapal et al., 1999; ...
The veins of the azygos system vary greatly in mode of origin, course, numbers of tributaries and anastomoses, and nature of termination. The azygos vein system can take different courses. Such variation is important in mediastinal surgery, and knowledge of congenital variations can be of clinical importance. It is imperative for reporting radiologists to identify such anomalies.
Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy subtypes. However the relationship between each congenital myopathy, defined on histological grounds, and the genetic cause is complex. Many of the congenital myopathies are due to mutations in more than one gene, and mutations in the same gene can cause different muscle path...
PURPOSE To screen α-crystallin (CRYAB), γ-crystallin (CRYGC and CRYGD), and Connexin 50 (Cx-50 or GJA8) genes in congenital cataract patients and controls. METHODS Thirty clinically diagnosed congenital cataract cases below 3 years of age from northern India, presenting at Dr. R. P. Centre for Ophthalmic Sciences (AIIMS, New Delhi, India) were enrolled in this study. Genomic DNA was extracted...
Transcription elongation factor S-II stimulates mRNA chain elongation catalyzed by RNA polymerase II. S-II is highly conserved among eukaryotes and is essential for definitive hematopoiesis in mice. In the present study, we report the identification of five novel nucleotide variations in the human S-II gene in the Japanese population. All five variations were located in introns, and no polymorp...
Spatial variations in ambient ultrafine particle concentrations and risk of congenital heart defects
BACKGROUND The import of the cavum variation and its prevalence rate in healthy individuals is still not clear, likewise in neurologically diseased patients. PURPOSE To evaluate the frequency and pattern of caval variations in neurologically diseased patients. MATERIAL AND METHODS The presence or absence of the cavum septum pellucidum (CSP), cavum vergae (CV), or cavum velum interpositum (C...
The high frequency (3.0-5.0%) of congenital anomalies (CA) and intellectual disabilities (IDs), make them a serious problem, responsible for a high percentage (33.0%) of neonatal mortality. The genetic cause remains unclear in 40.0% of cases. Recently, molecular karyotyping has become the most powerful method for detection of pathogenic imbalances in patients with multiple CAs and IDs. This met...
BACKGROUND Congenital sideroblastic anemias are rare disorders with several genetic causes; they are characterized by erythroblast mitochondrial iron overload, differ greatly in severity and some occur within a syndrome. The most common cause of non-syndromic, microcytic sideroblastic anemia is a defect in the X-linked 5-aminolevulinate synthase 2 gene but this is not always present. Recently, ...
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