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。Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND) (vol 24, pg 1235, 2016)
Sureni V. Mullegama et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome
Vladimir Camarena et al.
EMBO MOLECULAR MEDICINE (2014)
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities
J. C. Hodge et al.
MOLECULAR PSYCHIATRY (2014)
Intragenic MBD5 familial deletion variant does not negatively impact MBD5 mRNA expression
Sureni V. Mullegama et al.
MOLECULAR CYTOGENETICS (2014)
Extended spectrum of MBD5 mutations in neurodevelopmental disorders
Celine Bonnet et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
Gemma L. Carvill et al.
NATURE GENETICS (2013)
Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability
Tjitske Kleefstra et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Neurodevelopmental Features in 2q23.1 Microdeletion Syndrome: Report of a New Patient With Intractable Seizures and Review of Literature
Mitsuo Motobayashi et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder
Michael E. Talkowski et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype
Bregje W. M. van Bon et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures
Stephen R. Williams et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?
S. Jaillard et al.
JOURNAL OF MEDICAL GENETICS (2009)
Diagnostic genome profiling in mental retardation
BBA de Vries et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Comparative study of methyl-CpG-binding domain proteins
TC Roloff et al.
BMC GENOMICS (2003)
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities
LELM Vissers et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
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