Literature DB >> 6982672

The elfin face syndrome and the short arm of chromosome 15.

J P Fryns, L G van der Hauwaert, M Dumoulin, H van den Berghe.   

Abstract

Mesh：

Year:  1982        PMID： 6982672

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


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  6 in total

1.  A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome.

Authors:  R D Jefferson; J Burn; K L Gaunt; S Hunter; E V Davison
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

Review 2.  Williams syndrome.

Authors:  J Burn
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

3.  Unbalanced 13;18 translocation and Williams syndrome.

Authors:  A Colley; Y Thakker; H Ward; D Donnai
Journal:  J Med Genet       Date:  1992-01       Impact factor: 6.318

4.  Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.

Authors:  C A Joyce; B Zorich; S J Pike; J C Barber; N R Dennis
Journal:  J Med Genet       Date:  1996-12       Impact factor: 6.318

Review 5.  Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.

Authors:  M G Mattei; N Souiah; J F Mattei
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

6.  De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome.

Authors:  L Telvi; J M Pinard; R Ion; P M Sinet; A Nicole; J Feingold; O Dulac; A Pompidou; G Ponsot
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318
  6 in total

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