相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Autism and Other Neuropsychiatric Symptoms Are Prevalent in Individuals With MECP2 Duplication Syndrome
Melissa B. Ramocki et al.
ANNALS OF NEUROLOGY (2009)
Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection
Trine E. Prescott et al.
CLINICAL DYSMORPHOLOGY (2009)
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance
Jill Clayton-Smith et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
Distal Xq duplication and functional Xq disomy
Damien Sanlaville et al.
ORPHANET JOURNAL OF RARE DISEASES (2009)
Neurologic Aspects of MECP2 Gene Duplication in Male Patients
Bernard Echenne et al.
PEDIATRIC NEUROLOGY (2009)
Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections
M. Smyk et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2008)
Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28
Michael J. Friez et al.
PEDIATRICS (2006)
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males
Daniela del Gaudio et al.
GENETICS IN MEDICINE (2006)
X-linked mental retardation: many genes for a complex disorder
HH Ropers
CURRENT OPINION IN GENETICS & DEVELOPMENT (2006)
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
H Van Esch et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome -: art. no. e12
M Meins et al.
JOURNAL OF MEDICAL GENETICS (2005)