UBE2A deficiency syndrome: A report of two unrelated cases with large Xq24 deletions encompassingUBE2Agene

Etiological yield of SNP microarrays in idiopathic intellectual disability

(2014) G. Eda Utine et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes

(2013) Tracy Tucker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability

(2013) Joke Vandewalle et al.   HUMAN GENETICS

Mutations in the Intellectual Disability Gene Ube2a Cause Neuronal Dysfunction and Impair Parkin-Dependent Mitophagy

(2013) Dominik M. Haddad et al.   MOLECULAR CELL

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

(2013) Johanna Czeschik et al.   Orphanet Journal of Rare Diseases

Reduced nuclear factor-κB repressing factor: a link toward systemic inflammation in COPD

(2012) Kang-Yun Lee et al.   EUROPEAN RESPIRATORY JOURNAL

UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients

(2010) Nicole de Leeuw et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel missense mutations in the ubiquitination-related geneUBE2Acause a recognizable X-linked mental retardation syndrome

(2010) B Budny et al.   CLINICAL GENETICS

Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation

(2010) Shozo Honda et al.   JOURNAL OF HUMAN GENETICS

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

Molecular characterization of the MLL-SEPT6 fusion gene in acute myeloid leukemia: identification of novel fusion transcripts and cloning of genomic breakpoint junctions

(2008) N. Cerveira et al.   HAEMATOLOGICA