منابع مشابه
Lowe syndrome
Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. It is a uncommon, panethnic, X-linked disease, with estimated prevalence in the general population of approximately 1 in 500,000. Bilateral cataract and severe hypotonia are present at birth. In the subsequent weeks or months, a ...
متن کاملLowe syndrome
Lowe syndrome (LS) is a lethal X-linked genetic disease caused by functional deficiencies of the phosphatidlyinositol 5-phosphatase, Ocrl1. In the past four years, our lab described the first Ocrl1-specific cellular phenotypes using dermal fibroblasts from LS patients. These phenotypes, validated in an ocrl1-morphant zebrafish model, included membrane remodeling (cell migration/spreading, fluid...
متن کاملCelia Lowe : Wild Profusion
is published by Princeton University Press and copyrighted, © 2006, by Princeton University Press. All rights reserved. No part of this book may be reproduced in any form by any electronic or mechanical means (including photocopying, recording, or information storage and retrieval) without permission in writing from the publisher, except for reading and browsing via the World Wide Web. Users ar...
متن کاملLowe on Conditional Probability
The concept of conditional probability has been employed for hundreds of years. Thomas Bayes used the expression "the probability that [B] on the supposition that [A]" in the statement of a basic law (1763, p. 378). Frank Ramsey, developing the application of probability to uncertain epistemic attitudes, the "logic of partial belief (1926, p. 166), wrote of your "degree of belief in [B] given [...
متن کاملDental findings in Lowe syndrome.
This paper presents the dental findings of a child with the oculocerebrorenal syndrome of Lowe. The genetic abnormality in this condition results in an inborn error of inositol phosphate metabolism. Renal tubular dysfunction leads to metabolic acidosis and phosphaturia. At 4 years, generalised mobility of all primary teeth was noted. It is postulated that a defective inositol phosphate metaboli...
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ژورنال
عنوان ژورنال: Publications of the Astronomical Society of the Pacific
سال: 1895
ISSN: 0004-6280,1538-3873
DOI: 10.1086/120977