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排序方式: 共有855条查询结果,搜索用时 15 毫秒
131.
132.
The role of the radiologist in coronary angiography 总被引:1,自引:0,他引:1
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Venza M Visalli M Alafaci C Caffo M Caruso G Salpietro FM Tomasello F Teti D 《Neurosurgery》2011,69(3):713-21; discussion 721
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Di Bella C Salpietro C La Rosa M Cuppari C Piraino B Cutri MR Rigoli L 《Annals of hematology》2006,85(12):829-831
We analyzed the prevalence of α-thalassemia mutations in 298 subjects from Eastern Sicily (Italy) with reduced mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH), normal HbA2 and HbF, and normal serum iron. In 131 subjects (43.9%) we found six different genotypes of α-thalassemia: -α3.7/αα (36.6%), -α3.7/-α3.7 (27.5%), –MED/αα (10.0%), -α20.5/αα (9.1%), αHphIα/αα (8.4%), αHphIα/αHphIα (6.1%), and -α3.7/αHphIα (2.3%). Our data underline that in Eastern Sicily populations, the molecular screening of α-thalassemia mutations and/or deletions may be useful to better characterize the clinically asymptomatic subjects with a slightly reduced MCV and MCH and normal iron status. 相似文献
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Ainslie M Hildebrand Kapil M Bhagirath Vignendra Ariyarajah Jonathan R Walker Donald S Houston Shelley Zieroth James W Tam Iain DC Kirkpatrick Davinder S Jassal 《The Canadian journal of cardiology》2009,25(12):e424-e425
A patient with hypertrophic cardiomyopathy (HCM) and transfusion-dependent sideroblastic anemia, who presented with decompensated heart failure, is described. The present case demonstrates the usefulness of cardiac magnetic resonance imaging as a noninvasive imaging modality to assess the etiology of new systolic dysfunction in the setting of HCM. Cardiac magnetic resonance imaging is able to differentiate between the dilated ‘burned-out’ phase of HCM and a concomitant dilated cardiomyopathy secondary to myocarditis or hemosiderosis. 相似文献
138.
Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization 总被引:2,自引:0,他引:2
Shieh JT Aradhya S Novelli A Manning MA Cherry AM Brumblay J Salpietro CD Bernardini L Dallapiccola B Hoyme HE 《American journal of medical genetics. Part A》2006,140(12):1267-1273
In 2000, Teebi reported on a 4-year-old boy with a distinctive pattern of malformation, which he termed the "Nablus mask-like facial syndrome" (OMIM# 608156). Characterization of this syndrome has been difficult because of the paucity of patients described in the medical literature and its unknown etiology and pathogenesis. We present two patients with Nablus mask-like facial syndrome who both display a microdeletion in the 8q21-8q22 region detected by array-based comparative genomic hybridization. Patient 1, a boy, has a distinct facial appearance characterized by severe blepharophimosis, tight-appearing glistening facial skin, sparse and unruly hair, a flat and broad nose, and distinctive ears that are triangular in shape with prominent antihelices. He also demonstrates camptodactyly, contractures, unusual dentition, cryptorchidism, mild developmental delay, and a happy demeanor. Patient 2, a girl with a strikingly similar phenotype, was previously described in a report by Salpietro et al. 2003. She has distinctive ears, dental anomalies, and developmental delay. The etiology of her pattern of malformation was not identified at that time. Although high-resolution chromosome and subtelomeric FISH analyses were normal, array-based comparative genomic hybridization revealed an approximately 4 Mb deletion involving the 8q21.3-8q22.1 region in both patients. This region encompasses a number of genes that may contribute to this unique phenotype. These results demonstrate a chromosomal microdeletion as the etiology of Nablus mask-like facial syndrome and emphasize the diagnostic utility of array-based comparative genomic hybridization in the evaluation of multiple malformation syndromes of previously unrecognized causation. 相似文献
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140.
Howard Vernon DC PhD John T. Triano David Soave Maricelle DinulosKim Ross DC PhD Steven Tran 《Journal of manipulative and physiological therapeutics》2013