Literature DB >> 21120465

Williams-Beuren syndrome: historical aspects.

Walter E Berdon1, Patricia M Clarkson, Rita L Teele.   

Abstract

Williams syndrome, also known as Williams-Beuren syndrome (OMIM database entry 194050), is now known to be commonly associated with a hemizygous chromosomal deletion at 7.q11.23. The way in which the condition came to be recognized historically is reviewed along with some biographical details of the people involved.

Entities:  

Mesh：

Year:  2010        PMID： 21120465     DOI： 10.1007/s00247-010-1908-z

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  23 in total

1.  ASSOCIATION BETWEEN AORTIC STENOSIS AND FACIES OF SEVERE INFANTILE HYPERCALCAEMIA.

Authors:  J A BLACK; R E CARTER
Journal:  Lancet       Date:  1963-10-12       Impact factor: 79.321

2.  Supravalvular aortic stenosis.

Authors:  J J DENIE; A P VERHEUGT
Journal:  Circulation       Date:  1958-11       Impact factor: 29.690

3.  Severe type of infantile hypercalcaemia.

Authors:  B E SCHLESINGER; N R BUTLER; J A BLACK
Journal:  Br Med J       Date:  1956-01-21

4.  The idiopathic hypercalcaemic syndromes of infancy.

Authors:  K G LOWE; J L HENDERSON; W W PARK; D A McGREAL
Journal:  Lancet       Date:  1954-07-17       Impact factor: 79.321

5.  [Chronic hyperglycemia, combined with osteosclerosis, hyperazotemia, nanism and congenital malformations].

Authors:  G FANCONI; P GIRARDET; B SCHLESINGER; N BUTLER; J BLACK
Journal:  Helv Paediatr Acta       Date:  1952-08

6.  The early history of cardiac surgery in New Zealand.

Authors:  Brian Barratt-Boyes
Journal:  Heart Lung Circ       Date:  2003       Impact factor: 2.975

Review 7.  Williams syndrome: an historical perspective of its evolution, natural history, and etiology.

Authors:  K L Jones
Journal:  Am J Med Genet Suppl       Date:  1990

8.  [4 cases of the Williams' syndrome treated surgically with success].

Authors:  L Borio Alluto; A A Dato; P Rosato
Journal:  Boll Soc Ital Cardiol       Date:  1972

9.  A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis.

Authors:  T M Olson; V V Michels; Z Urban; K Csiszar; A M Christiano; D J Driscoll; R H Feldt; C D Boyd; S N Thibodeau
Journal:  Hum Mol Genet       Date:  1995-09       Impact factor: 6.150

10.  The Williams syndrome: objective definition and diagnosis.

Authors:  M Preus
Journal:  Clin Genet       Date:  1984-05       Impact factor: 4.438
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  6 in total

1.  The clinical and genetic distinction between familial supravalvular aortic stenosis (Eisenberg syndrome) and Williams-Beuren syndrome.

Authors:  Joy M Samanich; Terry L Levin; Walter E Berdon
Journal:  Pediatr Radiol       Date:  2012-07-29

Review 2.  Williams-Beuren syndrome: computed tomography imaging review.

Authors:  Karuna M Das; Tarek S Momenah; Sven G Larsson; Shehla Jadoon; Abdullah S Aldosary; Edward Y Lee
Journal:  Pediatr Cardiol       Date:  2014-08-20       Impact factor: 1.655

3.  John C. P. Williams of Williams-Beuren syndrome.

Authors:  Howard M Lenhoff; Rita L Teele; Patricia M Clarkson; Walter E Berdon
Journal:  Pediatr Radiol       Date:  2010-11-25

4.  Cleft palate in Williams syndrome.

Authors:  Scopelliti Domenico; Cipriani Orlando; Fatone Flavia Maria Graziana; Piero Papi; Amodeo Giulia
Journal:  Ann Maxillofac Surg       Date:  2013-01

5.  Williams Syndrome and Music: A Systematic Integrative Review.

Authors:  Donovon Thakur; Marilee A Martens; David S Smith; Ed Roth
Journal:  Front Psychol       Date:  2018-11-14

Review 6.  Genetic causes of neonatal and infantile hypercalcaemia.

Authors:  Caroline M Gorvin
Journal:  Pediatr Nephrol       Date:  2021-05-14       Impact factor: 3.714
  6 in total

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