نتایج جستجو برای: beckwith wiedimann syndrome
تعداد نتایج: 622113 فیلتر نتایج به سال:
The development of genetic testing has given patients with familial endocrine diseases the opportunity to be identified earlier in life. The importance of this technological advancement cannot be underestimated, as some of these heritable diseases have significant potential for malignancy. This article focuses on the identification and surgical management of familial endocrinopathies of the thy...
primary benign neoplasm of spleen and usually represents a small localized tumor. Diffuse hemangiomatosis of the spleen is a variant of hemangioma in which the splenic parenchyma is widely replaced by vascular proliferations. This condition may be confined to the spleen or may occur as a manifestation of systemic angiomatosis. Associations of splenic hemangiomatosis with Beckwith-Wiedeman syndr...
Beckwith-Wiedemann Syndrome is a congenital disease associated with macrosomia, macroglossia, abdomianl wall defects, hemihypertrophy, neonatal hypoglicemia, microcephaly and musculoskeletal system abnormalities. The aim of this case report is to present our anesthesia experience in a 10 year old patient with BeckwithWiedemann syndrome in whom could not be intubated with external laryngeal mani...
The complete developmental expression pattern of the cyclin dependent kinase inhibitor (CDKI) p57(kip2) has not been reported, here we report a detailed study of the localization of p57(kip2) protein during mouse organogenesis. We show that p57(kip2) is coincident with key stages of differentiation of several organs, some but not all of which are affected in Beckwith-Weidermann syndrome, a huma...
Allograptaterraenovae sp. n. and Allograptanotiale sp. n. are described from Australia. Notes on the Australian species of Allograpta and an identification key to them are also given. The lectotype of Allograptajavana Wiedemann is designated, and the species Syrphuspallidus Bigot is synonymized under Allograptaaustralensis (Schiner).
We provide data on fetal growth pattern on the molecular subtypes of Beckwith-Wiedemann syndrome (BWS): IC1 gain of methylation (IC1-GoM), IC2 loss of methylation (IC2-LoM), 11p15.5 paternal uniparental disomy (UPD), and CDKN1C mutation. In this observational study, gestational ages and neonatal growth parameters of 247 BWS patients were compared by calculating gestational age-corrected standar...
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