Literature DB >> 24569604

Clinical utility gene card for: Williams-Beuren Syndrome [7q11.23].

Udo Koehler1, Brigitte Pabst2, Barbara Pober3, Beth Kozel4.   

Abstract

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Year:  2014        PMID： 24569604      PMCID： PMC4135419          DOI： 10.1038/ejhg.2014.28

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  10 in total

1.  American Academy of Pediatrics: Health care supervision for children with Williams syndrome.

Authors: 
Journal:  Pediatrics       Date:  2001-05       Impact factor: 7.124

Review 2.  The genomic basis of the Williams-Beuren syndrome.

Authors:  C Schubert
Journal:  Cell Mol Life Sci       Date:  2009-04       Impact factor: 9.261

Review 3.  Williams-Beuren syndrome.

Authors:  Barbara R Pober
Journal:  N Engl J Med       Date:  2010-01-21       Impact factor: 91.245

4.  Multisystem study of 20 older adults with Williams syndrome.

Authors:  Elizabeth M Cherniske; Thomas O Carpenter; Cheryl Klaiman; Eytan Young; Joel Bregman; Karl Insogna; Robert T Schultz; Barbara R Pober
Journal:  Am J Med Genet A       Date:  2004-12-15       Impact factor: 2.802

5.  Mutational mechanisms of Williams-Beuren syndrome deletions.

Authors:  Mònica Bayés; Luis F Magano; Núria Rivera; Raquel Flores; Luis A Pérez Jurado
Journal:  Am J Hum Genet       Date:  2003-06-09       Impact factor: 11.025

6.  Elastin: mutational spectrum in supravalvular aortic stenosis.

Authors:  K Metcalfe; A K Rucka; L Smoot; G Hofstadler; G Tuzler; P McKeown; V Siu; A Rauch; J Dean; N Dennis; I Ellis; W Reardon; C Cytrynbaum; L Osborne; J R Yates; A P Read; D Donnai; M Tassabehji
Journal:  Eur J Hum Genet       Date:  2000-12       Impact factor: 4.246

7.  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

8.  Prevalence estimation of Williams syndrome.

Authors:  Petter Strømme; Per G Bjørnstad; Kjersti Ramstad
Journal:  J Child Neurol       Date:  2002-04       Impact factor: 1.987

9.  Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.

Authors:  Y Q Wu; V R Sutton; E Nickerson; J R Lupski; L Potocki; J R Korenberg; F Greenberg; M Tassabehji; L G Shaffer
Journal:  Am J Med Genet       Date:  1998-06-16

10.  Frequency of the 7q11.23 inversion polymorphism in transmitting parents of children with Williams syndrome and in the general population does not differ between North America and Europe.

Authors:  Colleen A Morris; Carolyn B Mervis; Lucy R Osborne
Journal:  Mol Cytogenet       Date:  2011-02-28       Impact factor: 2.009
  10 in total
  4 in total

Review 1.  Addressing the Educational Needs of Children with Williams Syndrome: A Rather Neglected Area of Research?

Authors:  Olympia Palikara; Maria Ashworth; Jo Van Herwegen
Journal:  J Autism Dev Disord       Date:  2018-09

2.  Sequential egocentric navigation and reliance on landmarks in Williams syndrome and typical development.

Authors:  Hannah J Broadbent; Emily K Farran; Andrew Tolmie
Journal:  Front Psychol       Date:  2015-02-25

3.  Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients.

Authors:  Hannah Broadbent; Emily K Farran; Esther Chin; Kay Metcalfe; May Tassabehji; Peter Turnpenny; Francis Sansbury; Emma Meaburn; Annette Karmiloff-Smith
Journal:  J Neurodev Disord       Date:  2014-07-15       Impact factor: 4.025

4.  Diagnostic Path of a Genetic Disease: A Case of Williams-Beuren Syndrome in Burkina Faso.

Authors:  Makoura Barro; Bintou Sanogo; Aimée S Kissou; Ad Bafa Ibrahim Ouattara; Boubacar Nacro
Journal:  Pediatr Rep       Date:  2015-12-17
  4 in total

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