Literature DB >> 2706804

Interstitial deletion of the long arm of chromosome 6(q22.2q23) in a boy with phenotypic features of Williams syndrome.

V Bzdúch, M Lukácová.   

Abstract

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Year:  1989        PMID： 2706804     DOI： 10.1111/j.1399-0004.1989.tb02932.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  5 in total

1.  Williams syndrome and chromosome 18.

Authors:  F H Menko; P J Stouthart
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

2.  Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.

Authors:  Jill A Rosenfeld; Dina Amrom; Eva Andermann; Frederick Andermann; Martin Veilleux; Cynthia Curry; Jamie Fisher; Stephen Deputy; Arthur S Aylsworth; Cynthia M Powell; Kandamurugu Manickam; Bryce Heese; Melissa Maisenbacher; Cathy Stevens; Jay W Ellison; Sheila Upton; John Moeschler; Wilfredo Torres-Martinez; Abby Stevens; Robert Marion; Elaine Maria Pereira; Melanie Babcock; Bernice Morrow; Trilochan Sahoo; Allen N Lamb; Blake C Ballif; Alex R Paciorkowski; Lisa G Shaffer
Journal:  Neurogenetics       Date:  2012-01-05       Impact factor: 2.660

3.  Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.

Authors:  L A Pérez Jurado; R Peoples; P Kaplan; B C Hamel; U Francke
Journal:  Am J Hum Genet       Date:  1996-10       Impact factor: 11.025

4.  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

5.  6q21-22 deletion syndrome with interrupted aortic arch.

Authors:  Ayumi Matsumoto; Yasuyuki Nozaki; Takaomi Minami; Eriko F Jimbo; Hirohiko Shiraishi; Takanori Yamagata
Journal:  Hum Genome Var       Date:  2015-06-11
  5 in total

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