Literature DB >> 10451389

Williams syndrome: an update on clinical and molecular aspects.

K Metcalfe1.   

Abstract

Entities:  

Mesh：

Year:  1999        PMID： 10451389      PMCID： PMC1718081          DOI： 10.1136/adc.81.3.198

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


× No keyword cloud information.
  26 in total

1.  Specific neurobehavioral profile of Williams' syndrome is associated with neocerebellar hemispheric preservation.

Authors:  P P Wang; J R Hesselink; T L Jernigan; S Doherty; U Bellugi
Journal:  Neurology       Date:  1992-10       Impact factor: 9.910

2.  THE SYNDROME OF SUPRAVALVULAR AORTIC STENOSIS, PERIPHERAL PULMONARY STENOSIS, MENTAL RETARDATION AND SIMILAR FACIAL APPEARANCE.

Authors:  A J BEUREN; C SCHULZE; P EBERLE; D HARMJANZ; J APITZ
Journal:  Am J Cardiol       Date:  1964-04       Impact factor: 2.778

3.  The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion.

Authors:  R Peoples; L Perez-Jurado; Y K Wang; P Kaplan; U Francke
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

4.  The Williams syndrome: evidence for possible autosomal dominant inheritance.

Authors:  L S Sadler; L K Robinson; K R Verdaasdonk; R Gingell
Journal:  Am J Med Genet       Date:  1993-09-15

5.  LIM-kinase deleted in Williams syndrome.

Authors:  M Tassabehji; K Metcalfe; W D Fergusson; M J Carette; J K Dore; D Donnai; A P Read; C Pröschel; N J Gutowski; X Mao; D Sheer
Journal:  Nat Genet       Date:  1996-07       Impact factor: 38.330

6.  Idiopathic infantile hypercalcaemia--a continuing enigma.

Authors:  N D Martin; G J Snodgrass; R D Cohen
Journal:  Arch Dis Child       Date:  1984-07       Impact factor: 3.791

7.  Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.

Authors:  M C Lowery; C A Morris; A Ewart; L J Brothman; X L Zhu; C O Leonard; J C Carey; M Keating; A R Brothman
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

8.  Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

Authors:  A K Ewart; C A Morris; D Atkinson; W Jin; K Sternes; P Spallone; A D Stock; M Leppert; M T Keating
Journal:  Nat Genet       Date:  1993-09       Impact factor: 38.330

9.  Williams syndrome: autosomal dominant inheritance.

Authors:  C A Morris; I T Thomas; F Greenberg
Journal:  Am J Med Genet       Date:  1993-09-15

10.  Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome.

Authors:  E Nickerson; F Greenberg; M T Keating; C McCaskill; L G Shaffer
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025
View more
  2 in total

1.  MRI assessment of superior temporal gyrus in Williams syndrome.

Authors:  Adriana Sampaio; Nuno Sousa; Montse Férnandez; Cristiana Vasconcelos; Martha E Shenton; Oscar F Gonçalves
Journal:  Cogn Behav Neurol       Date:  2008-09       Impact factor: 1.600

2.  Genetic contributions to human gyrification: sulcal morphometry in Williams syndrome.

Authors:  J Shane Kippenhan; Rosanna K Olsen; Carolyn B Mervis; Colleen A Morris; Philip Kohn; Andreas Meyer-Lindenberg; Karen Faith Berman
Journal:  J Neurosci       Date:  2005-08-24       Impact factor: 6.167
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.