Literature DB >> 13967885

Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance.

A J BEUREN, J APITZ, D HARMJANZ.   

Abstract

Entities:  

Keywords:  AORTIC STENOSIS; FACIAL EXPRESSION; MENTAL DEFICIENCY

Mesh：

Year:  1962        PMID： 13967885     DOI： 10.1161/01.cir.26.6.1235

Source DB:  PubMed          Journal:  Circulation        ISSN： 0009-7322            Impact factor:   29.690


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  85 in total

1.  Williams syndrome: an update on clinical and molecular aspects.

Authors:  K Metcalfe
Journal:  Arch Dis Child       Date:  1999-09       Impact factor: 3.791

2.  Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis.

Authors:  H Fryssira; R Palmer; K A Hallidie-Smith; J Taylor; D Donnai; W Reardon
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

3.  A FAMILY STUDY OF AORTIC STENOSIS.

Authors:  H E ZOETHOUT; R E CARTER; C O CARTER
Journal:  J Med Genet       Date:  1964-09       Impact factor: 6.318

4.  SUPRAVALVAR AORTIC STENOSIS ASSOCIATED WITH MENTAL AND PHYSICAL RETARDATION AND A CHARACTERISTIC FACIES.

Authors:  D A WILLIAMSON
Journal:  Proc R Soc Med       Date:  1964-02

5.  FAMILIAL SUPRAVALVAR AORTIC STENOSIS.

Authors:  W F LOGAN; E W JONES; E WALKER; N COULSHED; E J EPSTEIN
Journal:  Br Heart J       Date:  1965-07

6.  [EEG IN LEFT HYPERTROPHY AND CONGENITAL AND ACQUIRED HEART DEFECTS].

Authors:  K W DIEDERICH; S NOWSKI; R SCHROEDER
Journal:  Arch Kreislaufforsch       Date:  1964-10

7.  High prevalence of diabetes and pre-diabetes in adults with Williams syndrome.

Authors:  B R Pober; E Wang; S Caprio; K F Petersen; C Brandt; T Stanley; L R Osborne; J Dzuria; B Gulanski
Journal:  Am J Med Genet C Semin Med Genet       Date:  2010-05-15       Impact factor: 3.908

8.  Association of mouse Dlg4 (PSD-95) gene deletion and human DLG4 gene variation with phenotypes relevant to autism spectrum disorders and Williams' syndrome.

Authors:  Michael Feyder; Rose-Marie Karlsson; Poonam Mathur; Matthew Lyman; Roland Bock; Reza Momenan; Jeeva Munasinghe; Maria Luisa Scattoni; Jessica Ihne; Marguerite Camp; Carolyn Graybeal; Douglas Strathdee; Alison Begg; Veronica A Alvarez; Peter Kirsch; Marcella Rietschel; Sven Cichon; Henrik Walter; Andreas Meyer-Lindenberg; Seth G N Grant; Andrew Holmes
Journal:  Am J Psychiatry       Date:  2010-10-15       Impact factor: 18.112

9.  Abnormalities in neural processing of emotional stimuli in Williams syndrome vary according to social vs. non-social content.

Authors:  Karen E Muñoz; Andreas Meyer-Lindenberg; Ahmad R Hariri; Carolyn B Mervis; Venkata S Mattay; Colleen A Morris; Karen Faith Berman
Journal:  Neuroimage       Date:  2009-12-11       Impact factor: 6.556

10.  Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus.

Authors:  D Kotzot; F Bernasconi; L Brecevic; W P Robinson; P Kiss; G Kosztolanyi; I W Lurie; A Superti-Furga; A Schinzel
Journal:  Eur J Pediatr       Date:  1995-06       Impact factor: 3.183
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