Literature DB >> 18241085

First prenatally diagnosed case of 16p11.2p12.1 duplication.

S Bourthoumieu, F Esclaire, F Terro, M Fiorenza, V Aubard, V Malan, S Romana, C Yardin.   

Abstract

Mesh：

Year:  2008        PMID： 18241085     DOI： 10.1002/pd.1949

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


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  2 in total

1.  16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.

Authors:  John C K Barber; Victoria Hall; Viv K Maloney; Shuwen Huang; Angharad M Roberts; Angela F Brady; Nicki Foulds; Beverley Bewes; Marianne Volleth; Thomas Liehr; Karl Mehnert; Mark Bateman; Helen White
Journal:  Eur J Hum Genet       Date:  2012-07-25       Impact factor: 4.246

2.  Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.

Authors:  Anne-Claude Tabet; Marion Pilorge; Richard Delorme; Frédérique Amsellem; Jean-Marc Pinard; Marion Leboyer; Alain Verloes; Brigitte Benzacken; Catalina Betancur
Journal:  Eur J Hum Genet       Date:  2012-01-11       Impact factor: 4.246
  2 in total

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