Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
about
Genetics of autistic disorders: review and clinical implicationsCharacterizing autism spectrum disorders by key biochemical pathways.MECP2 disorders: from the clinic to mice and backReversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides.Clinical impacts of genomic copy number gains at Xq28The role of MeCP2 in brain development and neurodevelopmental disordersNovel variants identified in methyl-CpG-binding domain genes in autistic individuals.Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowthA partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections.Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes.Insulin signaling is acutely required for long-term memory in Drosophila.MECP2 duplication syndrome in a Chinese family.Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability.MECP2 Duplication Syndrome: Evidence of Enhanced Oxidative Stress. A Comparison with Rett Syndrome.MECP2 Duplication SyndromeMolecular and Clinical Aspects of Angelman Syndrome.Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardationThe relationship of Rett syndrome and MECP2 disorders to autism.The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism.Epigenetics, autism spectrum, and neurodevelopmental disorders.The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability.Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.MECP2 duplication phenotype in symptomatic females: report of three further cases.MeCP2-Related Diseases and Animal Models.Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature.Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.Genetics, molecular biology, and phenotypes of x-linked epilepsy.Expanding the clinical picture of the MECP2 Duplication syndrome.Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?Lessons learned from studying syndromic autism spectrum disorders.Infectious and immunologic phenotype of MECP2 duplication syndrome.De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation.MECP2 duplications in six patients with complex sex chromosome rearrangementsAn RNA interference screen identifies druggable regulators of MeCP2 stability.Identification, functional analysis, prevalence and treatment of monocarboxylate transporter 8 (MCT8) mutations in a cohort of adult patients with mental retardation.Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation.An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient.
P2860
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P2860
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
description
2008 nî lūn-bûn
@nan
2008 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Structural variation in Xq28: ...... ts with severe encephalopathy.
@ast
Structural variation in Xq28: ...... ts with severe encephalopathy.
@en
Structural variation in Xq28: ...... ts with severe encephalopathy.
@nl
type
label
Structural variation in Xq28: ...... ts with severe encephalopathy.
@ast
Structural variation in Xq28: ...... ts with severe encephalopathy.
@en
Structural variation in Xq28: ...... ts with severe encephalopathy.
@nl
prefLabel
Structural variation in Xq28: ...... ts with severe encephalopathy.
@ast
Structural variation in Xq28: ...... ts with severe encephalopathy.
@en
Structural variation in Xq28: ...... ts with severe encephalopathy.
@nl
P2093
P2860
P50
P356
P1476
Structural variation in Xq28: ...... ts with severe encephalopathy.
@en
P2093
Andreas Tzschach
Arjan P M de Brouwer
Astrid R Oudakker
Ben C J Hamel
Bernard Echenne
Cyril Goizet
Declan O'Rourke
Dietz Rating
Dorien Lugtenberg
Gholamali Tariverdian
P2860
P2888
P304
P356
10.1038/EJHG.2008.208
P577
2008-11-05T00:00:00Z
P5875
P6179
1040388475