نتایج جستجو برای: gorlin
تعداد نتایج: 1306 فیلتر نتایج به سال:
In 1954 Papillon-Leage and Psaume (I954a, b) described 8 patients with a syndrome characterized by congenital anomalies of the face, oral cavity, and digits. Since then, several groups of patients have been reported (Gorlin, Anderson, and Scott, I96I; Ruess, Pruzansky, Lis, and Patau, I962; Gorlin and Psaume, I962; Kaplan, Vaharu, Voorhess, and Gardner, I962; Kushnick, Massa, and Baukema, I963;...
Gorlin syndrome is an autosomal dominant inherited syndrome that predisposes a patient to the formation of basal cell carcinomas, odontogenic keratocysts, and skeletal anomalies. Causative mutations in several genes associated with the sonic hedgehog (SHH) signaling pathway, including PTCH1, have been identified in Gorlin syndrome patients. However, no definitive genotype-phenotype correlations...
The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very...
OBJECTIVES This study was conducted to determine the utility of aortic valve resistance in assessing the severity of aortic stenosis. BACKGROUND Assessment of the severity of aortic stenosis has traditionally employed hemodynamic data and the Gorlin formula to calculate the area of the aortic valve. Recently, flow dependence of the Gorlin formula has been identified and the accuracy of the fo...
BACKGROUND Gorlin syndrome, also known as the basal cell nevus syndrome (OMIM #109400), is a rare autosomal-dominant genetic disease. The disease, which shows mutation of the patched receptor gene (PTCH1) of the sonic hedgehog pathway, is characterized by developing multiple basal cell carcinomas (BCCs) in adolescent patients. Other clinical features include mandibular keratocysts, palmar and p...
Background Valve areas derived by the Gorlin formula have been observed to vary with transvalvular volume flow rate. Continuity equation valve areas calculated from Doppler-echo data have become a widely used alternate index of stenosis severity, but it is unclear whether continuity equation valve areas also vary with volume flow rate. This study was designed to investigate the effects of chang...
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