A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation

Author:

Hyon Capucine,Marlin Sandrine,Chantot-Bastaraud Sandra,Mabboux Philippe,Beaujard Marie-Paule,Al Ageeli Essam,Vazquez Marie-Paule,Picard Arnaud,Siffroi Jean-Pierre,Portnoï Marie-France

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference18 articles.

1. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation;Allen;Am. J. Hum. Genet.,1992

2. Increased LIS1 expression affects human and mouse brain development;Bi;Nat. Genet.,2009

3. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes;Bruno;J. Med. Genet.,2010

4. Escape from X inactivation in human and mouse;Disteche;Trends Genet.,1995

5. Molecular and cytogenetic analysis of the spreading of X inactivation in a girl with microcephaly, mild dysmorphic features and t(X;5)(q22.1;q31.1);Giorda;Eur. J. Hum. Genet.,2008

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