نتایج جستجو برای: mccune

تعداد نتایج: 528  

2017
Eric Cancès Claude Le Bris Claude Le

We survey some recent mathematical works we have contributed to that are related to the modeling of defects in materials science at different scales. We emphasize the similarities (need of a reference, often periodic system; renormalization procedure; etc) shared by models arising in different contexts. Our illustrative examples are taken from electronic structure models, atomistic models, homo...

Journal: :Southern medical journal 2012
Henry S Perkins Josie D Cortez Helen P Hazuda

BACKGROUND Because beliefs about the soul after death affect the dying experience, patients and survivors may want to discuss those beliefs with their healthcare provider; however, almost no medical research describes such beliefs, leaving healthcare professionals ill prepared to respond. This exploratory study begins the descriptive process. METHODS Assuming that culture is key, we asked old...

Journal: :The Israel Medical Association journal : IMAJ 2009
Roni Peleg Avizov Luba Alon Eliakim Lilach Israeli-Shani Esther Manor Ruth Birk Ruti Parvari

BACKGROUND McCune-Albright syndrome is a sporadic disorder characterized by polystotic fibrous dysplasia, pigmented patches of skin, and endocrinological abnormalities. OBJECTIVES To compare the genetic characteristics of the GNAS1 gene in a monozygotic pair of twins, one of whom was diagnosed with MAS while the other had no indication of the syndrome. METHODS We performed a molecular analy...

Journal: :The Korean Journal of Internal Medicine 2007
Sang Hun Sung Hyun Dae Yoon Ho Sang Shon Hong Tae Kim Woo Young Choi Chang Jin Seo Joo Hyoung Lee

McCune-Albright syndrome (MAS) is a rare disorder that develops from an activating mutation in the Gs gene. It is characterized by an association with Polyostotic fibrous dysplasia, and precocious puberty, Caf-au-lait pigmentation, and other endocrinopathies that result from the hyperactivity of a variety of endocrine glands. Recently we encountered a patient with MAS with fibrous dysplasia, sk...

Journal: :Seizure 2009
Vincenzo Belcastro Lucilla Parnetti Paolo Prontera Emilio Donti Aroldo Rossi Nicola Tambasco

We observed a 15-year-old Caucasian boy with a rare form of reflex epilepsy, known as hot water epilepsy (HWE), associated to McCune-Albright syndrome (MAS). This is a rare disease due to post-zygotic and somatic mutations of the Gs-alpha gene, that results in cellular mosaicism. Predominant features of MAS occur in the bony skeleton, the skin, the endocrine system, and, in atypical presentatio...

2014
Kyung Eun Jung Ji Hae Lee Tae Yoon Kim

Received July 26, 2013, Revised September 11, 2013, Accepted for publication September 26, 2013 Corresponding author: Tae Yoon Kim, Department of Dermatology, The Catholic University of Korea, Seoul St. Mary’s Hospital, 222 Banpodaero, Seocho-gu, Seoul 137-701, Korea. Tel: 82-2-593-2626, Fax: 82-2-3482-8261, E-mail: [email protected] This is an Open Access article distributed under the te...

2017
Mustafa Tosur Michael T. Collins Stephen W. Ponder Constantine A. Stratakis Lefkothea P. Karaviti George S. Jeha

2011
MICHAEL KINYON

Ken Kunen is justifiably best known for his work in set theory and topology. What I would guess many of his friends and students in those areas do not know is that Ken also did important work in algebra, especially in quasigroup and loop theory. In fact, I think it is not an exaggeration to say that his work in loop theory, both alone and in collaboration, revolutionized the field. In this pape...

2005
Carlos Florentino José Mourão João P. Nunes

We study geometric quantization of moduli spaces of vector bundles on an algebraic curve X, and its relation to theta functions. In limits when the complex structure of X degenerates, we describe vector spaces of distributions with Verlinde dimension, associated to the quantization of some of these moduli spaces in real polarizations. We show that special bases on these spaces, defined using a ...

Journal: :iranian journal of nuclear medicine 2015
subramanyam padma palaniswamy shanmuga sundaram

the classical triad of mccune-albright syndrome (mas) consists of polyostotic fibrous dysplasia (fd), skin hyperpigmentation (café-au-lait spots), and endocrine dysfunction, frequently seen in females as precocious puberty. etiology is genetically based and is explained by mosaicism of activating somatic mutations of the alpha-subunit of gs protein. clinical presentation is varied and is depend...

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