A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females

(2011) Magdalena Bartnik et al.   GENETICS IN MEDICINE

Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure

(2010) Akira Nishimura-Tadaki et al.   JOURNAL OF HUMAN GENETICS

Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis

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

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies and cardiac laterality defects

(2009) Emma Hilton et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

X-linked cataract and Nance-Horan syndrome are allelic disorders

(2009) Margherita Coccia et al.   HUMAN MOLECULAR GENETICS

Novel mutation ofIL1RAPL1gene in a nonspecific X-linked mental retardation (MRX) family

(2008) Magdalena Nawara et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Structure of a BCOR Corepressor Peptide in Complex with the BCL6 BTB Domain Dimer

(2008) Alexandru F. Ghetu et al.   MOLECULAR CELL