Matches in SemOpenAlex for { <https://semopenalex.org/work/W2115301408> ?p ?o ?g. }
- W2115301408 endingPage "e12" @default.
- W2115301408 startingPage "e12" @default.
- W2115301408 abstract "Rett syndrome is an X linked mental retardation syndrome almost exclusively affecting girls, and has long been regarded as an X linked dominant condition lethal in hemizygous males.1 Mutations in the gene encoding the methyl-CpG binding protein 2 (MECP2) were demonstrated as the cause of Rett syndrome,2 and confirmed by a number of studies. The vast majority (95%) of MECP2 mutations occurs de novo. Girls affected by “classic” Rett syndrome show mental retardation and regression, with a typical pattern of symptoms including initially normal development, stagnation, loss of acquired abilities, stereotypic hand movements, regression of speech, profound psychomotor retardation, epilepsy, and autism, although molecular diagnostics has proven that variant clinical forms exist.3,4It has recently been shown that missense mutations in MECP2 can cause severe neonatal encephalopathy in boys.5 Classic Rett phenotypes in boys have so far only been reported in rare cases of somatic mosaicism or XXY karyotypes.6–11 In girls, larger intragenic deletions are responsible for about 11–16% of typical Rett syndrome without point mutations in the coding exons.12,13 Larger deletions have not yet been found in boys, and duplications of MECP2 have not yet been reported as a cause for typical Rett syndrome at all. We have established quantitative PCR for diagnosis of deletions affecting MECP2 , and in this paper, we report a boy manifesting clinical features of Rett syndrome and a submicroscopic duplication within the cytogenetic band Xq28 encompassing the entire MECP2 gene.The boy is the second child of healthy, unrelated parents, whose older brother had developed normally. There is no family history of mental retardation or developmental disorders. The patient was born in the 41st week after an uneventful pregnancy. Birth was spontaneous but with protracted labour (birth weight 3940 g, length 54 cm, head …" @default.
- W2115301408 created "2016-06-24" @default.
- W2115301408 creator A5086112736 @default.
- W2115301408 date "2005-02-01" @default.
- W2115301408 modified "2023-10-01" @default.
- W2115301408 title "Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome" @default.
- W2115301408 cites W113984154 @default.
- W2115301408 cites W1559742681 @default.
- W2115301408 cites W1963541877 @default.
- W2115301408 cites W1981495424 @default.
- W2115301408 cites W1984366092 @default.
- W2115301408 cites W1985907760 @default.
- W2115301408 cites W1988249803 @default.
- W2115301408 cites W1989825881 @default.
- W2115301408 cites W1990871013 @default.
- W2115301408 cites W1997286592 @default.
- W2115301408 cites W2003111937 @default.
- W2115301408 cites W2005274995 @default.
- W2115301408 cites W2021878605 @default.
- W2115301408 cites W2029449888 @default.
- W2115301408 cites W2037167329 @default.
- W2115301408 cites W2047042799 @default.
- W2115301408 cites W2048490262 @default.
- W2115301408 cites W2049128446 @default.
- W2115301408 cites W2053235668 @default.
- W2115301408 cites W2072591969 @default.
- W2115301408 cites W2110920216 @default.
- W2115301408 cites W2118269074 @default.
- W2115301408 cites W2127755213 @default.
- W2115301408 cites W2145532500 @default.
- W2115301408 cites W2168783124 @default.
- W2115301408 cites W2169760625 @default.
- W2115301408 cites W2171657985 @default.
- W2115301408 cites W637530828 @default.
- W2115301408 doi "https://doi.org/10.1136/jmg.2004.023804" @default.
- W2115301408 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1735993" @default.
- W2115301408 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15689435" @default.
- W2115301408 hasPublicationYear "2005" @default.
- W2115301408 type Work @default.
- W2115301408 sameAs 2115301408 @default.
- W2115301408 citedByCount "197" @default.
- W2115301408 countsByYear W21153014082012 @default.
- W2115301408 countsByYear W21153014082013 @default.
- W2115301408 countsByYear W21153014082014 @default.
- W2115301408 countsByYear W21153014082015 @default.
- W2115301408 countsByYear W21153014082016 @default.
- W2115301408 countsByYear W21153014082017 @default.
- W2115301408 countsByYear W21153014082018 @default.
- W2115301408 countsByYear W21153014082019 @default.
- W2115301408 countsByYear W21153014082020 @default.
- W2115301408 countsByYear W21153014082021 @default.
- W2115301408 countsByYear W21153014082022 @default.
- W2115301408 countsByYear W21153014082023 @default.
- W2115301408 crossrefType "journal-article" @default.
- W2115301408 hasAuthorship W2115301408A5086112736 @default.
- W2115301408 hasBestOaLocation W21153014081 @default.
- W2115301408 hasConcept C104317684 @default.
- W2115301408 hasConcept C127716648 @default.
- W2115301408 hasConcept C150194340 @default.
- W2115301408 hasConcept C169760540 @default.
- W2115301408 hasConcept C2777082864 @default.
- W2115301408 hasConcept C2777543196 @default.
- W2115301408 hasConcept C2778863441 @default.
- W2115301408 hasConcept C35158069 @default.
- W2115301408 hasConcept C54355233 @default.
- W2115301408 hasConcept C60644358 @default.
- W2115301408 hasConcept C71924100 @default.
- W2115301408 hasConcept C7602840 @default.
- W2115301408 hasConcept C86803240 @default.
- W2115301408 hasConceptScore W2115301408C104317684 @default.
- W2115301408 hasConceptScore W2115301408C127716648 @default.
- W2115301408 hasConceptScore W2115301408C150194340 @default.
- W2115301408 hasConceptScore W2115301408C169760540 @default.
- W2115301408 hasConceptScore W2115301408C2777082864 @default.
- W2115301408 hasConceptScore W2115301408C2777543196 @default.
- W2115301408 hasConceptScore W2115301408C2778863441 @default.
- W2115301408 hasConceptScore W2115301408C35158069 @default.
- W2115301408 hasConceptScore W2115301408C54355233 @default.
- W2115301408 hasConceptScore W2115301408C60644358 @default.
- W2115301408 hasConceptScore W2115301408C71924100 @default.
- W2115301408 hasConceptScore W2115301408C7602840 @default.
- W2115301408 hasConceptScore W2115301408C86803240 @default.
- W2115301408 hasIssue "2" @default.
- W2115301408 hasLocation W21153014081 @default.
- W2115301408 hasLocation W21153014082 @default.
- W2115301408 hasLocation W21153014083 @default.
- W2115301408 hasLocation W21153014084 @default.
- W2115301408 hasOpenAccess W2115301408 @default.
- W2115301408 hasPrimaryLocation W21153014081 @default.
- W2115301408 hasRelatedWork W1964159332 @default.
- W2115301408 hasRelatedWork W1979707152 @default.
- W2115301408 hasRelatedWork W1998812987 @default.
- W2115301408 hasRelatedWork W2065410176 @default.
- W2115301408 hasRelatedWork W2089629933 @default.
- W2115301408 hasRelatedWork W2115301408 @default.
- W2115301408 hasRelatedWork W2555490424 @default.
- W2115301408 hasRelatedWork W2596353765 @default.
- W2115301408 hasRelatedWork W2945306991 @default.