my.bionity.com
Mit einem my.bionity.com-Account haben Sie immer alles im Überblick - und können sich Ihre eigene Website und Ihren individuellen Newsletter konfigurieren.
Abstract
We report on maternal half‐sibs born to unaffected, non‐consanguineous parents with classical Shprintzen–Goldberg syndrome (SGS) who had in addition intestinal malrotation and an aberrant subclavian artery. In one other SGS family germline mosaicism has been described. SGS is molecularly heterogeneous and has been linked to mutations in three genomic loci. This suggests there may be multiple other genetic factors that result in a common clinical phenotype and a number of investigators have implicated a fourth region (15q25‐qter) in the etiology of SGS. © 2012 Wiley Periodicals, Inc.
| Autoren: | Alan L. Shanske, James T. Goodrich, Leena Ala‐Kokko, Stuart Baker, Barbara Frederick, Brynn Levy | |
| Journal: | American Journal of Medical Genetics Part A | |
| Jahrgang: | 2012 | |
| Seiten: | n/a | |
| DOI: | 10.1002/ajmg.a.35388 | |
| Erscheinungsdatum: | 25.05.2012 |
Merkliste
Hier setzen Sie die nebenstehende Fachpublikation auf Ihre persönliche Merkliste.
Zusatzinformationen
Cancer risks for MLH1 and MSH2 mutation carriers
ABSTRACT We studied 17,576 members of 166 MLH1 and 224 MSH2 mutation‐carrying families from the Colon Cancer Family Registry. Average cumulative risks of colorectal cancer (CRC), endometrial cancer (EC) and other cancers for carriers were estimated using modified segregation analysis co ... mehr
Scope Flavonoids have well‐known antioxidant, anti‐inflammatory, and anti‐cancer activities. Isoflavone genistein is considered a potent antioxidant agent against oxidative stress. Although several mechanisms have been proposed, a clear antioxidant mechanism of genistein is still remain ... mehr
Abstract People can get oral cancers from UV (290‐400 nm) exposures. Besides high outdoor UV exposures, high indoor UV exposures to oral tissues can occur when consumers use UV‐emitting tanning devices to either tan or whiten their teeth. We compared the carcinogenic risks of skin to or ... mehr
Über CHEMIE.DE
CHEMIE.DE betreibt naturwissenschaftliche Fachportale. Ausschließlich online und dies seit mehr als zehn Jahren. Hier erfahren Sie mehr über uns.
Werben bei CHEMIE.DE
Unsere Werbeformen unterstützen Sie dabei Ihre Botschaften klar zu kommunizieren. Zielgruppengenau. Erfahren Sie mehr über unsere Angebote.
© 1997-2013 CHEMIE.DE Information Service GmbH, All rights reserved
Netmeeting
