Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion

scientific article published in May 2010

Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1000496495
P356DOI10.1203/PDR.0B013E3181D4ECF7
P698PubMed publication ID20098342
P5875ResearchGate publication ID41123724

P50authorJan Traeger-SynodinosQ50271228
P2093author name stringEmmanuel Kanavakis
Sophia Kitsiou-Tzeli
Stavroula Psoni
Christalena Sofocleous
Helen Fryssira-Kanioura
P2860cites workRett syndrome: clinical manifestations in males with MECP2 mutationsQ48650852
MECP2 mutation in male patients with non-specific X-linked mental retardation.Q50312539
X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype.Q51720130
MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.Q51945943
De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.Q51955909
Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol.Q53520675
Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in malesQ57206738
In-frame deletion inMECP2 causes mild nonspecific mental retardationQ58061411
The Ski protein family is required for MeCP2-mediated transcriptional repressionQ24291417
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardationQ24534159
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphismsQ34144292
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspotsQ34146268
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndromeQ34307505
Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.Q34665890
Genetic basis of Rett syndromeQ34733498
Mutations in exon 1 of MECP2 are a rare cause of Rett syndromeQ35447613
MECP2 abnormality phenotypes: clinicopathologic area with broad variabilityQ36286534
Dissecting MECP2 function in the central nervous systemQ36286552
Rett syndrome: new clinical and molecular insights.Q36545755
MECP2 mutations in males.Q36757032
Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.Q37162573
MeCP2 gene mutation analysis in autistic boys with developmental regressionQ38302965
MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous motherQ48470303
P433issue5
P407language of work or nameEnglishQ1860
P304page(s)551-556
P577publication date2010-05-01
P1433published inPediatric ResearchQ7159215
P1476titlePhenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion
P478volume67

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cites work (P2860)
Q46217072Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions
Q37835686Epigenetic impacts on neurodevelopment: pathophysiological mechanisms and genetic modes of action
Q92058785Genetic Analysis of MECP2 Gene in Iranian Patients with Rett Syndrome
Q58580302Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort
Q60921105High-fat diet accelerates extreme obesity with hyperphagia in female heterozygous Mecp2-null mice
Q35213632Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations.