نتایج جستجو برای: jacobsen

تعداد نتایج: 888  

Journal: :American journal of medical genetics. Part A 2004
Marjan Haghi Asheesh Dewan Kenneth Lee Jones Richard Reitz Christopher Jones Paul Grossfeld

Jacobsen syndrome (JS), a rare disorder with multiple dysmorphic features, is caused by the terminal deletion of chromosome 11q. Short stature has been reported in this syndrome, however very few of these patients have undergone endocrine evaluation. Serum insulin-like growth factor-1 (IGF-1) levels are an indirect indicator of growth hormone activity and are a useful initial screening tool in ...

Journal: :American journal of medical genetics 1998
R C Michaelis G V Velagaleti C Jones E K Pivnick M C Phelan E Boyd J Tarleton R S Wilroy A Tunnacliffe A T Tharapel

Recent studies have identified a (CCG)n repeat in the 5' untranslated region of the CBL2 protooncogene (11q23.3) and have demonstrated that expansion of this repeat causes expression of the folate-sensitive fragile site FRA11B. It has also been demonstrated that FRA11B is the site of breakage in some cases of Jacobsen syndrome (JS) involving terminal deletions of chromosome 11q. We report on 2 ...

Journal: :American journal of medical genetics 1999
C M Aalfs J M Hoovers F A Wijburg

More than 70 patients with Jacobsen syndrome have been described [Penny et al., 1995; Pivnick et al., 1996; Ono et al., 1996]. The Jacobsen syndrome comprises mild to moderate psychomotor retardation, trigonocephaly, minor facial anomalies, cardiac defects, and thrombocytopenia. The syndrome is caused by distal deletions of chromosome arm 11q, including 11q24.1. Until now, no clear correlation ...

2010
Robert B. Pratt Gretchen B. North Anna L. Jacobsen Frank W. Ewers Stephen D. Davis

Robert B. Pratt*, Gretchen B. North, Anna L. Jacobsen, Frank W. Ewers and Stephen D. Davis Department of Biology, California State University, Bakersfield, Bakersfield, California 93311, USA; Department of Biology, Occidental College, Los Angeles, California 90041, USA; Biological Sciences Department, California State Polytechnic University, Pomona, California 91768, USA; and Natural Science Di...

2011
Roger Falcone Chris Jacobsen Janos Kirz Stefano Marchesini David Shapiro John Spence

Roger Falcone, Chris Jacobsen, Janos Kirz, Stefano Marchesini, David Shapiro, and John Spence Advanced Light Source, Lawrence Berkeley National Laboratory, Berkeley, CA, USA Department of Physics, University of California, Berkeley, CA, USA Argonne National Laboratory,Argonne, IL, USA Northwestern University,Evanston, IL, USA NSLS II, Brookhaven National Laboratory, Upton, NY, USA Department of...

2004
Brian M. Stoltz

Catalytic aerobic dehydrogenation of organic substrates is going through a Renaissance. Recent advances in this area have led to the discovery of palladium-catalyzed alcohol dehydrogenations and oxidative heteroand carbocyclizations. The development of asymmetric catalytic dehydrogenations is the latest advance in a long line of catalytic asymmetric oxidation reactions. Introduction Asymmetric ...

2010
Mari A Bjornaas Knut E Hovda Fridtjof Heyerdahl Karina Skog Dag Jacobsen Oivind Ekeberg Mari Asphjell Bjornaas

Title: Suicidal intention, psychosocial factors and referral to further treatment-a one-year cross-sectional study of self-poisonings Authors: Mari A Bjornaas ([email protected]) Knut E Hovda ([email protected]) Fridtjof Heyerdahl ([email protected]) Karina Skog ([email protected]) Per Drottning ([email protected]) Anders Opdahl ([email protected]) Dag J...

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