FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1602931600> ?p ?o ?g. }

• W1602931600 endingPage "14" @default.
• W1602931600 startingPage "907" @default.
• W1602931600 abstract "Two unrelated boys are described with delay in development and submicroscopic deletions in Xq28, near FRAXE. Molecular diagnosis to exclude the fragile X (FRAXA) syndrome used the direct probe pfxa3, together with a control probe pS8 (DXS296), against PstI restriction digests of DNA. Deletions were detected initially by the control probe pS8, which is an anonymous fragment subcloned from YAC 539, within 1 Mb distal to FRAXA. Further molecular analyses determined that the maximum size of the deletion is < 100 kb in one boy (MK) and is wholly overlapped by the deletion of up to approximately 200 kb in the other (CB). These deletions lie between the sequences detected by the probe VK21C (DXS296) and a dinucleotide repeat VK18AC (DXS295). The patient MK had only speech delay with otherwise normal development, while patient CB had global developmental delay that included speech delay. Detection of overlapping deletions in these two cases led to speculation that coding sequences of a gene(s) important in language development may be affected. Hybridization of the pS8 and VK21A probes to zooblots revealed cross-species homology. This conservation during evolution suggested that this region contains sequences with functional significance in normal development. The VK21A probe detected a 9.5-kb transcript in placenta and brain and a smaller, 2.5-kb, transcript in other tissues analyzed." @default.
• W1602931600 created "2016-06-24" @default.
• W1602931600 creator A5008858270 @default.
• W1602931600 creator A5019059377 @default.
• W1602931600 creator A5040186683 @default.
• W1602931600 creator A5055353118 @default.
• W1602931600 creator A5059560690 @default.
• W1602931600 creator A5066595661 @default.
• W1602931600 creator A5072479956 @default.
• W1602931600 creator A5085749904 @default.
• W1602931600 date "1995-04-01" @default.
• W1602931600 modified "2023-10-18" @default.
• W1602931600 title "Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE." @default.
• W1602931600 cites W1601962651 @default.
• W1602931600 cites W1683691009 @default.
• W1602931600 cites W1805124894 @default.
• W1602931600 cites W182190949 @default.
• W1602931600 cites W1966891860 @default.
• W1602931600 cites W1974821934 @default.
• W1602931600 cites W1977283045 @default.
• W1602931600 cites W1984555462 @default.
• W1602931600 cites W1987468173 @default.
• W1602931600 cites W2002780348 @default.
• W1602931600 cites W2029687941 @default.
• W1602931600 cites W2038699987 @default.
• W1602931600 cites W2047901053 @default.
• W1602931600 cites W2083700082 @default.
• W1602931600 cites W2084547117 @default.
• W1602931600 cites W2094415025 @default.
• W1602931600 cites W2121082106 @default.
• W1602931600 cites W2140540720 @default.
• W1602931600 cites W2149919973 @default.
• W1602931600 cites W2169492321 @default.
• W1602931600 cites W2336616868 @default.
• W1602931600 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1801213" @default.
• W1602931600 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7536393" @default.
• W1602931600 hasPublicationYear "1995" @default.
• W1602931600 type Work @default.
• W1602931600 sameAs 1602931600 @default.
• W1602931600 citedByCount "21" @default.
• W1602931600 countsByYear W16029316002014 @default.
• W1602931600 countsByYear W16029316002021 @default.
• W1602931600 countsByYear W16029316002022 @default.
• W1602931600 countsByYear W16029316002023 @default.
• W1602931600 crossrefType "journal-article" @default.
• W1602931600 hasAuthorship W1602931600A5008858270 @default.
• W1602931600 hasAuthorship W1602931600A5019059377 @default.
• W1602931600 hasAuthorship W1602931600A5040186683 @default.
• W1602931600 hasAuthorship W1602931600A5055353118 @default.
• W1602931600 hasAuthorship W1602931600A5059560690 @default.
• W1602931600 hasAuthorship W1602931600A5066595661 @default.
• W1602931600 hasAuthorship W1602931600A5072479956 @default.
• W1602931600 hasAuthorship W1602931600A5085749904 @default.
• W1602931600 hasConcept C104317684 @default.
• W1602931600 hasConcept C122735190 @default.
• W1602931600 hasConcept C127716648 @default.
• W1602931600 hasConcept C130197536 @default.
• W1602931600 hasConcept C153911025 @default.
• W1602931600 hasConcept C165525559 @default.
• W1602931600 hasConcept C2777082864 @default.
• W1602931600 hasConcept C2777630245 @default.
• W1602931600 hasConcept C2779674439 @default.
• W1602931600 hasConcept C2779688443 @default.
• W1602931600 hasConcept C30481170 @default.
• W1602931600 hasConcept C35158069 @default.
• W1602931600 hasConcept C54355233 @default.
• W1602931600 hasConcept C86803240 @default.
• W1602931600 hasConceptScore W1602931600C104317684 @default.
• W1602931600 hasConceptScore W1602931600C122735190 @default.
• W1602931600 hasConceptScore W1602931600C127716648 @default.
• W1602931600 hasConceptScore W1602931600C130197536 @default.
• W1602931600 hasConceptScore W1602931600C153911025 @default.
• W1602931600 hasConceptScore W1602931600C165525559 @default.
• W1602931600 hasConceptScore W1602931600C2777082864 @default.
• W1602931600 hasConceptScore W1602931600C2777630245 @default.
• W1602931600 hasConceptScore W1602931600C2779674439 @default.
• W1602931600 hasConceptScore W1602931600C2779688443 @default.
• W1602931600 hasConceptScore W1602931600C30481170 @default.
• W1602931600 hasConceptScore W1602931600C35158069 @default.
• W1602931600 hasConceptScore W1602931600C54355233 @default.
• W1602931600 hasConceptScore W1602931600C86803240 @default.
• W1602931600 hasIssue "4" @default.
• W1602931600 hasLocation W16029316001 @default.
• W1602931600 hasOpenAccess W1602931600 @default.
• W1602931600 hasPrimaryLocation W16029316001 @default.
• W1602931600 hasRelatedWork W1602931600 @default.
• W1602931600 hasRelatedWork W1964882223 @default.
• W1602931600 hasRelatedWork W2006884799 @default.
• W1602931600 hasRelatedWork W2007370221 @default.
• W1602931600 hasRelatedWork W2059696397 @default.
• W1602931600 hasRelatedWork W2060958215 @default.
• W1602931600 hasRelatedWork W2117480247 @default.
• W1602931600 hasRelatedWork W2131776678 @default.
• W1602931600 hasRelatedWork W2161543479 @default.
• W1602931600 hasRelatedWork W2515714979 @default.
• W1602931600 hasVolume "56" @default.
• W1602931600 isParatext "false" @default.
• W1602931600 isRetracted "false" @default.

• next