Cutaneous and Superficial Soft Tissue Lesions Associated With Albright Hereditary Osteodystrophy: Clinicopathological and Molecular Genetic Study of 4 Cases, Including a Novel Mutation of the GNAS Gene

2008 ◽  
Vol 30 (5) ◽  
pp. 417-424 ◽  
Author(s):  
Denisa Kacerovska ◽  
Jana Nemcova ◽  
Renata Pomahacova ◽  
Michal Michal ◽  
Dmitry V Kazakov
Keyword(s):  
Soft Tissue ◽  
Genetic Study ◽  
Novel Mutation ◽  
Molecular Genetic ◽  
Molecular Genetic Study ◽  
Albright Hereditary Osteodystrophy ◽  
Soft Tissue Lesions ◽  
Gnas Gene ◽  
Superficial Soft Tissue

Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation

2018 ◽  
Vol 120 (3) ◽  
pp. 3367-3372 ◽  
Author(s):  
Azam Ahmadi Shadmehri ◽  
Najmeh Fattahi ◽  
Mohammad Reza Pourreza ◽  
Mahboobeh Koohiyan ◽  
Shahnaz Zarifi ◽  
...  
Keyword(s):  
Genetic Study ◽  
Novel Mutation ◽  
Molecular Genetic ◽  
Glutaric Aciduria Type ◽  
Type I ◽  
Molecular Genetic Study ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I

Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L

2003 ◽  
Vol 25 (2) ◽  
pp. 116-121 ◽  
Author(s):  
Naohide Shiroma ◽  
Naomi Kanazawa ◽  
Zenichiro Kato ◽  
Nobuyuki Shimozawa ◽  
Atsushi Imamura ◽  
...  
Keyword(s):  
Genetic Study ◽  
Novel Mutation ◽  
Molecular Genetic ◽  
Japanese Patients ◽  
Alexander Disease ◽  
Molecular Genetic Study

Dedifferentiated endometrial carcinomas with neuroendocrine features: a clinicopathologic, immunohistochemical, and molecular genetic study

2018 ◽  
Vol 72 ◽  
pp. 100-106 ◽  
Author(s):  
Iñigo Espinosa ◽  
Antonio De Leo ◽  
Emanuela D'Angelo ◽  
Juan M. Rosa-Rosa ◽  
Marina Corominas ◽  
...  
Keyword(s):  
Genetic Study ◽  
Molecular Genetic ◽  
Molecular Genetic Study ◽  
Endometrial Carcinomas

scholarly journals Ultrasound and Doppler US in Evaluation of Superficial Soft-tissue Lesions

2014 ◽  
Vol 4 ◽  
pp. 12 ◽  
Author(s):  
Huseyin Toprak ◽  
Erkan Kiliç ◽  
Asli Serter ◽  
Ercan Kocakoç ◽  
Salih Ozgocmen
Keyword(s):  
Soft Tissue ◽  
Imaging Modality ◽  
Power Doppler ◽  
Soft Tissue Lesions ◽  
Doppler Us ◽  
Size Number ◽  
Ultrasound Technology ◽  
Superficial Tissue ◽  
Superficial Soft Tissue

Improved developments in digital ultrasound technology and the use of high-frequency broadband transducers make ultrasound (US) imaging the first screening tool in investigating superficial tissue lesions. US is a safe (no ionizing radiation), portable, easily repeatable, and cheap form of imaging compared to other imaging modalities. US is an excellent imaging modality to determine the nature of a mass lesion (cystic or solid) and its anatomic relation to adjoining structures. Masses can be characterized in terms of their size, number, component, and vascularity with US and Doppler US especially with power Doppler US. US, however, is operator dependent and has a number of artifacts that can result in misinterpretation. In this review, we emphasize the role of ultrasound, particularly power Doppler, in superficial soft-tissue lesions.

scholarly journals Erratum: Malignant Peripheral Nerve Sheath Tumors with t(X;18). A Pathologic and Molecular Genetic Study

2000 ◽  
Vol 13 (12) ◽  
pp. 1336-1346 ◽  
Author(s):  
Maureen J O'Sullivan ◽  
Michael Kyriakos ◽  
Xiaopei Zhu ◽  
Mark R Wick ◽  
Paul E Swanson ◽  
...  
Keyword(s):  
Peripheral Nerve ◽  
Genetic Study ◽  
Molecular Genetic ◽  
Molecular Genetic Study ◽  
Nerve Sheath Tumors ◽  
Peripheral Nerve Sheath Tumors ◽  
Nerve Sheath

A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study

2003 ◽  
Vol 25 (5) ◽  
pp. 362-366 ◽  
Author(s):  
Harumi Saijo ◽  
Harumi Nakayama ◽  
Takanori Ezoe ◽  
Katsuhito Araki ◽  
Sui Sone ◽  
...  
Keyword(s):  
Genetic Study ◽  
Molecular Genetic ◽  
Molecular Genetic Study ◽  
Subcortical Cysts

scholarly journals A Molecular-Genetic Study of the Arabidopsis Toc75 Gene Family

2005 ◽  
Vol 138 (2) ◽  
pp. 715-733 ◽  
Author(s):  
Amy Baldwin ◽  
Anthony Wardle ◽  
Ramesh Patel ◽  
Penny Dudley ◽  
Soon Ki Park ◽  
...  
Keyword(s):  
Gene Family ◽  
Genetic Study ◽  
Molecular Genetic ◽  
Molecular Genetic Study
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