scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1000496495 |
P356 | DOI | 10.1203/PDR.0B013E3181D4ECF7 |
P698 | PubMed publication ID | 20098342 |
P5875 | ResearchGate publication ID | 41123724 |
P50 | author | Jan Traeger-Synodinos | Q50271228 |
P2093 | author name string | Emmanuel Kanavakis | |
Sophia Kitsiou-Tzeli | |||
Stavroula Psoni | |||
Christalena Sofocleous | |||
Helen Fryssira-Kanioura | |||
P2860 | cites work | Rett syndrome: clinical manifestations in males with MECP2 mutations | Q48650852 |
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In-frame deletion inMECP2 causes mild nonspecific mental retardation | Q58061411 | ||
The Ski protein family is required for MeCP2-mediated transcriptional repression | Q24291417 | ||
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation | Q24534159 | ||
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms | Q34144292 | ||
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots | Q34146268 | ||
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome | Q34307505 | ||
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 syndrome | Q34733498 | ||
Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome | Q35447613 | ||
MECP2 abnormality phenotypes: clinicopathologic area with broad variability | Q36286534 | ||
Dissecting MECP2 function in the central nervous system | Q36286552 | ||
Rett syndrome: new clinical and molecular insights. | Q36545755 | ||
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Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure. | Q37162573 | ||
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MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother | Q48470303 | ||
P433 | issue | 5 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 551-556 | |
P577 | publication date | 2010-05-01 | |
P1433 | published in | Pediatric Research | Q7159215 |
P1476 | title | Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion | |
P478 | volume | 67 |
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