Matches in SemOpenAlex for { <https://semopenalex.org/work/W2059180147> ?p ?o ?g. }
Showing items 1 to 90 of
90
with 100 items per page.
- W2059180147 endingPage "1193" @default.
- W2059180147 startingPage "1188" @default.
- W2059180147 abstract "<b><i>Background:</i></b> The authors report a family in which two boys had severe neonatal encephalopathy of unknown origin. They both presented with the same condition and died of severe apnea before they were 1 year old. Their sister has a classic form of Rett syndrome. <b><i>Methods:</i></b> Because mutations in the methyl-CpG-binding protein 2 (<i>MECP2</i>) gene have been identified in 70 to 80% of the sporadic cases of Rett syndrome, the authors looked for a mutation in the <i>MECP2</i> gene in this family. <b><i>Results:</i></b> The authors identified a missense mutation (T158M) in the affected girl and subsequently showed that one of her affected brothers, for whom DNA was available, carried the same mutation. The mother of the patients is a carrier of the T158M mutation. X-chromosome inactivation studies showed that the mother has a completely skewed X-chromosome inactivation pattern that favors the expression of the normal allele; this explains why she does not exhibit any phenotypic manifestation. In addition, the <i>MECP2</i> mutation appeared on the grandpaternal X chromosome in this family. <b><i>Conclusions:</i></b> An <i>MECP2</i> mutation can be identified in boys, even though they do not present a Rett syndrome phenotype." @default.
- W2059180147 created "2016-06-24" @default.
- W2059180147 creator A5012013548 @default.
- W2059180147 creator A5014095748 @default.
- W2059180147 creator A5020004980 @default.
- W2059180147 creator A5048501611 @default.
- W2059180147 creator A5072319537 @default.
- W2059180147 creator A5086545502 @default.
- W2059180147 date "2000-10-24" @default.
- W2059180147 modified "2023-10-17" @default.
- W2059180147 title "Two affected boys in a Rett syndrome family: Clinical and molecular findings" @default.
- W2059180147 cites W1559742681 @default.
- W2059180147 cites W1784857457 @default.
- W2059180147 cites W1973553284 @default.
- W2059180147 cites W1979259704 @default.
- W2059180147 cites W1980123609 @default.
- W2059180147 cites W2003573497 @default.
- W2059180147 cites W2015353463 @default.
- W2059180147 cites W2032474463 @default.
- W2059180147 cites W2056983380 @default.
- W2059180147 cites W2063840478 @default.
- W2059180147 cites W2088544665 @default.
- W2059180147 cites W2090051505 @default.
- W2059180147 cites W2113595463 @default.
- W2059180147 cites W2116163265 @default.
- W2059180147 cites W2132165212 @default.
- W2059180147 cites W2163540024 @default.
- W2059180147 doi "https://doi.org/10.1212/wnl.55.8.1188" @default.
- W2059180147 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11071498" @default.
- W2059180147 hasPublicationYear "2000" @default.
- W2059180147 type Work @default.
- W2059180147 sameAs 2059180147 @default.
- W2059180147 citedByCount "178" @default.
- W2059180147 countsByYear W20591801472012 @default.
- W2059180147 countsByYear W20591801472013 @default.
- W2059180147 countsByYear W20591801472014 @default.
- W2059180147 countsByYear W20591801472015 @default.
- W2059180147 countsByYear W20591801472016 @default.
- W2059180147 countsByYear W20591801472017 @default.
- W2059180147 countsByYear W20591801472018 @default.
- W2059180147 countsByYear W20591801472019 @default.
- W2059180147 countsByYear W20591801472020 @default.
- W2059180147 countsByYear W20591801472021 @default.
- W2059180147 countsByYear W20591801472022 @default.
- W2059180147 countsByYear W20591801472023 @default.
- W2059180147 crossrefType "journal-article" @default.
- W2059180147 hasAuthorship W2059180147A5012013548 @default.
- W2059180147 hasAuthorship W2059180147A5014095748 @default.
- W2059180147 hasAuthorship W2059180147A5020004980 @default.
- W2059180147 hasAuthorship W2059180147A5048501611 @default.
- W2059180147 hasAuthorship W2059180147A5072319537 @default.
- W2059180147 hasAuthorship W2059180147A5086545502 @default.
- W2059180147 hasConcept C104317684 @default.
- W2059180147 hasConcept C127716648 @default.
- W2059180147 hasConcept C2777543196 @default.
- W2059180147 hasConcept C2778863441 @default.
- W2059180147 hasConcept C501734568 @default.
- W2059180147 hasConcept C54355233 @default.
- W2059180147 hasConcept C75563809 @default.
- W2059180147 hasConcept C86803240 @default.
- W2059180147 hasConceptScore W2059180147C104317684 @default.
- W2059180147 hasConceptScore W2059180147C127716648 @default.
- W2059180147 hasConceptScore W2059180147C2777543196 @default.
- W2059180147 hasConceptScore W2059180147C2778863441 @default.
- W2059180147 hasConceptScore W2059180147C501734568 @default.
- W2059180147 hasConceptScore W2059180147C54355233 @default.
- W2059180147 hasConceptScore W2059180147C75563809 @default.
- W2059180147 hasConceptScore W2059180147C86803240 @default.
- W2059180147 hasIssue "8" @default.
- W2059180147 hasLocation W20591801471 @default.
- W2059180147 hasLocation W20591801472 @default.
- W2059180147 hasOpenAccess W2059180147 @default.
- W2059180147 hasPrimaryLocation W20591801471 @default.
- W2059180147 hasRelatedWork W1953849490 @default.
- W2059180147 hasRelatedWork W1975365801 @default.
- W2059180147 hasRelatedWork W1990950692 @default.
- W2059180147 hasRelatedWork W2005223902 @default.
- W2059180147 hasRelatedWork W2021698162 @default.
- W2059180147 hasRelatedWork W2043493674 @default.
- W2059180147 hasRelatedWork W2062942227 @default.
- W2059180147 hasRelatedWork W2105665386 @default.
- W2059180147 hasRelatedWork W2127311839 @default.
- W2059180147 hasRelatedWork W2768544175 @default.
- W2059180147 hasVolume "55" @default.
- W2059180147 isParatext "false" @default.
- W2059180147 isRetracted "false" @default.
- W2059180147 magId "2059180147" @default.
- W2059180147 workType "article" @default.