Matches in SemOpenAlex for { <https://semopenalex.org/work/W2029130057> ?p ?o ?g. }
Showing items 1 to 87 of
87
with 100 items per page.
- W2029130057 endingPage "16" @default.
- W2029130057 startingPage "12" @default.
- W2029130057 abstract "We report on a third case with neurofibromatosis type 1 (NF1) due to mosaicism for a gross deletion in 17q11.2 covering the entire NF1 gene. The deletion was suspected in Giemsa banded chromosomes and was confirmed by fluorescence in situ hybridization using the cosmids CO919 from the 5′ region, GO2121 from the central, H10410 from the 3′ region of the NF1 gene, and the 1.7-Mb YAC 947G11 spanning the entire 350-kb genomic DNA of the NF1 gene. The deletion was present in 33% of peripheral blood lymphocytes and 58% of fibroblasts. The clinical manifestations in this 6-year-old male patient were especially severe and extended beyond the typical features of NF1. The patient also displayed facial anomalies, severe and early-onset psychomotor retardation, seizures, spasticity, and microcephaly. These features differ from other large-deletion NF1 patients, even nonmosaic cases. The complex phenotype could be explained by the involvement of coding sequences flanking the NF1 gene, thus supporting the existence of a contiguous gene syndrome in 17q11.2. Am. J. Med. Genet. 87:12–16, 1999. © 1999 Wiley-Liss, Inc." @default.
- W2029130057 created "2016-06-24" @default.
- W2029130057 creator A5018871388 @default.
- W2029130057 creator A5032089746 @default.
- W2029130057 creator A5061869444 @default.
- W2029130057 creator A5086699505 @default.
- W2029130057 creator A5088486593 @default.
- W2029130057 creator A5090027115 @default.
- W2029130057 date "1999-11-05" @default.
- W2029130057 modified "2023-10-18" @default.
- W2029130057 title "Somatic mosaicism of a greater than 1.7-Mb deletion of genomic DNA involving the entireNF1 gene as verified by FISH: Further evidence for a contiguous gene syndrome in 17q11.2" @default.
- W2029130057 cites W1967544628 @default.
- W2029130057 cites W1971884339 @default.
- W2029130057 cites W1980306036 @default.
- W2029130057 cites W1988928828 @default.
- W2029130057 cites W2001494601 @default.
- W2029130057 cites W2005655731 @default.
- W2029130057 cites W2021195249 @default.
- W2029130057 cites W2035457862 @default.
- W2029130057 cites W2037878415 @default.
- W2029130057 cites W2046498693 @default.
- W2029130057 cites W2047337667 @default.
- W2029130057 cites W2067606996 @default.
- W2029130057 cites W2076136589 @default.
- W2029130057 cites W2093123287 @default.
- W2029130057 cites W2145903182 @default.
- W2029130057 doi "https://doi.org/10.1002/(sici)1096-8628(19991105)87:1<12::aid-ajmg3>3.0.co;2-o" @default.
- W2029130057 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10528240" @default.
- W2029130057 hasPublicationYear "1999" @default.
- W2029130057 type Work @default.
- W2029130057 sameAs 2029130057 @default.
- W2029130057 citedByCount "22" @default.
- W2029130057 countsByYear W20291300572012 @default.
- W2029130057 countsByYear W20291300572016 @default.
- W2029130057 countsByYear W20291300572017 @default.
- W2029130057 countsByYear W20291300572018 @default.
- W2029130057 crossrefType "journal-article" @default.
- W2029130057 hasAuthorship W2029130057A5018871388 @default.
- W2029130057 hasAuthorship W2029130057A5032089746 @default.
- W2029130057 hasAuthorship W2029130057A5061869444 @default.
- W2029130057 hasAuthorship W2029130057A5086699505 @default.
- W2029130057 hasAuthorship W2029130057A5088486593 @default.
- W2029130057 hasAuthorship W2029130057A5090027115 @default.
- W2029130057 hasConcept C104317684 @default.
- W2029130057 hasConcept C122735190 @default.
- W2029130057 hasConcept C153911025 @default.
- W2029130057 hasConcept C2776395126 @default.
- W2029130057 hasConcept C2777542201 @default.
- W2029130057 hasConcept C2778984943 @default.
- W2029130057 hasConcept C30481170 @default.
- W2029130057 hasConcept C35101798 @default.
- W2029130057 hasConcept C54355233 @default.
- W2029130057 hasConcept C7602840 @default.
- W2029130057 hasConcept C86803240 @default.
- W2029130057 hasConceptScore W2029130057C104317684 @default.
- W2029130057 hasConceptScore W2029130057C122735190 @default.
- W2029130057 hasConceptScore W2029130057C153911025 @default.
- W2029130057 hasConceptScore W2029130057C2776395126 @default.
- W2029130057 hasConceptScore W2029130057C2777542201 @default.
- W2029130057 hasConceptScore W2029130057C2778984943 @default.
- W2029130057 hasConceptScore W2029130057C30481170 @default.
- W2029130057 hasConceptScore W2029130057C35101798 @default.
- W2029130057 hasConceptScore W2029130057C54355233 @default.
- W2029130057 hasConceptScore W2029130057C7602840 @default.
- W2029130057 hasConceptScore W2029130057C86803240 @default.
- W2029130057 hasIssue "1" @default.
- W2029130057 hasLocation W20291300571 @default.
- W2029130057 hasLocation W20291300572 @default.
- W2029130057 hasOpenAccess W2029130057 @default.
- W2029130057 hasPrimaryLocation W20291300571 @default.
- W2029130057 hasRelatedWork W1977113978 @default.
- W2029130057 hasRelatedWork W1993382531 @default.
- W2029130057 hasRelatedWork W2006337228 @default.
- W2029130057 hasRelatedWork W2010863322 @default.
- W2029130057 hasRelatedWork W2018967152 @default.
- W2029130057 hasRelatedWork W2042308282 @default.
- W2029130057 hasRelatedWork W2102322270 @default.
- W2029130057 hasRelatedWork W2138902995 @default.
- W2029130057 hasRelatedWork W2170023388 @default.
- W2029130057 hasRelatedWork W4242593273 @default.
- W2029130057 hasVolume "87" @default.
- W2029130057 isParatext "false" @default.
- W2029130057 isRetracted "false" @default.
- W2029130057 magId "2029130057" @default.
- W2029130057 workType "article" @default.