Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation

Four unrelated patients with lubs X-linked mental retardation syndrome and different Xq28 duplications

(2010) Oliver Bartsch et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

TheMECP2duplication syndrome

(2010) Melissa B. Ramocki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

ATR-X Syndrome Protein Targets Tandem Repeats and Influences Allele-Specific Expression in a Size-Dependent Manner

(2010) Martin J. Law et al.   CELL

ATRX Partners with Cohesin and MeCP2 and Contributes to Developmental Silencing of Imprinted Genes in the Brain

(2010) Kristin D. Kernohan et al.   DEVELOPMENTAL CELL

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

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax

(2009) Dorien Lugtenberg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

(2009) Claudia M.B. Carvalho et al.   HUMAN MOLECULAR GENETICS

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

(2008) Dorien Lugtenberg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS