Literature DB >> 10955480

22q11 deletion and polymicrogyria--cause or coincidence?

S Worthington1, A Turner, J Elber, P I Andrews.   

Abstract

We report a familial case of velocardiofacial syndrome (VCFS) with polymicrogyria to provide further support for the association of disorders of cortical development with del(22q11) syndromes.

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Year:  2000        PMID： 10955480     DOI： 10.1097/00019605-200009030-00008

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  5 in total

Review 1.  Genetics of the polymicrogyria syndromes.

Authors:  A Jansen; E Andermann
Journal:  J Med Genet       Date:  2005-05       Impact factor: 6.318

2.  Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

Authors:  William B Dobyns; Ghayda Mirzaa; Susan L Christian; Kristin Petras; Jessica Roseberry; Gary D Clark; Cynthia J R Curry; Donna McDonald-McGinn; Livija Medne; Elaine Zackai; Julie Parsons; Dina J Zand; Fuki M Hisama; Christopher A Walsh; Richard J Leventer; Christa L Martin; Marzena Gajecka; Lisa G Shaffer
Journal:  Am J Med Genet A       Date:  2008-07-01       Impact factor: 2.802

3.  Complex congenital heart disease in unaffected relatives of adults with 22q11.2 deletion syndrome.

Authors:  Jodi-Ann M Swaby; Candice K Silversides; Sean C Bekeschus; Sara Piran; Erwin N Oechslin; Eva W C Chow; Anne S Bassett
Journal:  Am J Cardiol       Date:  2011-02-01       Impact factor: 2.778

4.  Cortical gyrification in velo-cardio-facial (22q11.2 deletion) syndrome: a longitudinal study.

Authors:  Arun Kunwar; Seethalakshmi Ramanathan; Joshua Nelson; Kevin M Antshel; Wanda Fremont; Anne Marie Higgins; Robert J Shprintzen; Wendy R Kates
Journal:  Schizophr Res       Date:  2012-02-22       Impact factor: 4.939

Review 5.  Velo-cardio-facial syndrome: 30 Years of study.

Authors:  Robert J Shprintzen
Journal:  Dev Disabil Res Rev       Date:  2008
  5 in total

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