Literature DB >> 8130147

Velo-cardio-facial and DiGeorge syndromes with meningomyelocele and deletions of the 22Q11 region.

R E Nickel1, D A Pillers, M Merkens, R E Magenis, D A Driscoll, B S Emanuel, J Zonana.   

Abstract

Mesh：

Year:  1993        PMID： 8130147

Source DB:  PubMed          Journal:  Eur J Pediatr Surg        ISSN： 0939-7248            Impact factor:   2.191


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  3 in total

Review 1.  The cognitive phenotype of spina bifida meningomyelocele.

Authors:  Maureen Dennis; Marcia A Barnes
Journal:  Dev Disabil Res Rev       Date:  2010

2.  The 22q11.2 deletion in African-American patients: an underdiagnosed population?

Authors:  Donna M McDonald-McGinn; Nancy Minugh-Purvis; Richard E Kirschner; Abbas Jawad; Melissa K Tonnesen; Jason R Catanzaro; Elizabeth Goldmuntz; Deborah Driscoll; Don Larossa; Beverly S Emanuel; Elaine H Zackai
Journal:  Am J Med Genet A       Date:  2005-04-30       Impact factor: 2.802

3.  Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene.

Authors:  Alexander G Bassuk; Lakshmi B Muthuswamy; Riley Boland; Tiffany L Smith; Alissa M Hulstrand; Hope Northrup; Matthew Hakeman; Jason M Dierdorff; Christina K Yung; Abby Long; Rachel B Brouillette; Kit Sing Au; Christina Gurnett; Douglas W Houston; Robert A Cornell; J Robert Manak
Journal:  Hum Mol Genet       Date:  2012-12-07       Impact factor: 6.150
  3 in total

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