نتایج جستجو برای: gorlin

تعداد نتایج: 1306  

2011
Tomasz Bajon Ewa Adamiak Maciej Krawczyński

skin is the most common malignant cancer worldwide. It is characterized by a low grade of malignancy and it gives very rare metastases to lymph nodes or internal organs. It is also a typical symptom of Gorlin syndrome, which is characterized by multiple basal cell carcinomas, calcifications in the central nervous system and palmar or plantar pits. Mutations in the PTCH gene are responsible for ...

2015
Satheesh Chandran Karthikeyan Marudhamuthu R Riaz Saravanan Balasubramaniam

Gorlin-Goltz syndrome is an autosomal dominant inherited condition comprising the principle triad of basal cell carcinomas, multiple jaw keratocysts, and skeletal anomalies. The presence of jaw cysts are the early diagnostic feature of this syndrome, and this can be incidentally identified by routine radiographs. A patient presented with signs and symptoms of Gorlin-Goltz syndrome to us in her ...

Journal: :Journal of the American College of Cardiology 1987
J Segal D J Lerner D C Miller R S Mitchell E A Alderman R L Popp

In low flow states, underestimation errors occur when the Gorlin formula is used to calculate valve area. A model of valvular stenosis designed to examine changes in the hydraulic discharge coefficient (Cd) and coefficient of orifice contraction (Cc) may explain these errors. Unsteady flow was examined in a pulsatile pump model and in a dog model. Valve areas were calculated from pressure and f...

2016
JEAN-CLAUDE TARDIF

Objectives. The purpose of this study was to determine the impact of changes in flow on aortic valve area (AVA) as measured by the Gorlin formula and transesophageal echocardiographic (TEE) planimetry. Background. The meaning of flow-related changes in AVA calculations using the Gorlin formula in patients with aortic stenosis remains controversial. It has been suggested that flow dependence of ...

2017
Shoko Onodera Akiko Saito Daigo Hasegawa Nana Morita Katsuhito Watanabe Takeshi Nomura Takahiko Shibahara Shinsuke Ohba Akira Yamaguchi Toshifumi Azuma

Gorlin syndrome is a genetic disorder of autosomal dominant inheritance that predisposes the affected individual to a variety of disorders that are attributed largely to heterozygous germline patched1 (PTCH1) mutations. PTCH1 is a hedgehog (Hh) receptor as well as a repressor, mutation of which leads to constitutive activation of Hh pathway. Hh pathway encompasses a wide variety of cellular sig...

Journal: :Orphanet Journal of Rare Diseases 2015

Journal: :Circulation 1998

Journal: :International Archives of Otorhinolaryngology 2012

Journal: :Pediatrics 2016
Erdal Sag Rahsan Gocmen F Gokcem Yildiz Zeynelabidin Ozturk Cagri Temucin Ozlem Teksam Eda Utine

Congenital mirror movements are rare conditions that define the inability to perform unimanual movements. Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a genetic disorder with multiple nevi predisposing to basal cell carcinoma, odontogenic keratocysts, and skeletal malformations. Herein we report on an adolescent patient with Gorlin syndrome and coexisting congenital m...

2012
M Callea I Yavuz L Deroma M Montanari G Clarich M Maglione E Albertini L Garavelli

Case report Clinical, radiological and genetic findings revealed common features of Goltz-Gorlin syndrome and pure ED. Oro-dental characteristics of the patient mostly corresponded to those described in the literature. However, previously unreported oro-dental findings such as taurodontism, peg-shaped teeth and microdontia are considered unusual for Goltz-Gorlin syndrome, but similar to the den...

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