50e047db97bbdfef1d70acb95fdd2e7a 286584.pdf 29443d32430856227b1c6269deab1188336d6c01 286584.pdf b642b6a12ba451d8fd9e76e0c9e469f859577904a2a5c78b1f36ef1b3c6b9cae 286584.pdf Title: X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients Subject: Scientific Reports, doi:10.1038/s41598-019-48385-w Keywords: Author: Clara Xiol Creator: Springer Producer: iText® 5.3.5 ©2000-2012 1T3XT BVBA (AGPL-version) CreationDate: Sat Aug 10 09:31:24 2019 CEST ModDate: Tue Aug 13 12:10:44 2019 CEST Tagged: no UserProperties: no Suspects: no Form: AcroForm JavaScript: no Pages: 9 Encrypted: no Page size: 595.276 x 782.362 pts Page rot: 0 File size: 1308566 bytes Optimized: no PDF version: 1.4 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- YRVGPW+Corbel-Bold CID TrueType Identity-H yes yes yes 54 0 ZZBSDU+Corbel-BoldItalic CID TrueType Identity-H yes yes yes 351 0 OPFWAQ+TimesNewRomanPSMT Type 1C WinAnsi yes yes yes 352 0 MinionPro-It Type 1C Custom yes no yes 59 0 CGPKTO+STIXGeneral-Regular Type 1C Custom yes yes yes 55 0 VEPROU+Corbel-Bold2 Type 1C WinAnsi yes yes yes 57 0 MinionPro-Regular Type 1C Custom yes no yes 56 0 EPBMAR+Corbel2 Type 1C WinAnsi yes yes yes 60 0 RBPVVK+Corbel CID TrueType Identity-H yes yes yes 62 0 MyriadPro-It Type 1C WinAnsi yes no yes 63 0 EPBMAR+Corbel2 Type 1C WinAnsi yes yes yes 398 0 EuclidSymbol Type 1C Custom yes no yes 58 0 MinionPro-Bold Type 1C WinAnsi yes no yes 61 0 MinionPro-BoldIt Type 1C WinAnsi yes no yes 81 0 Jhove (Rel. 1.28.0, 2023-05-18) Date: 2024-01-10 02:32:34 CET RepresentationInformation: 286584.pdf ReportingModule: PDF-hul, Rel. 1.12.4 (2023-03-16) LastModified: 2024-01-09 13:31:50 CET Size: 1308566 Format: PDF Version: 1.4 Status: Well-Formed and valid SignatureMatches: PDF-hul MIMEtype: application/pdf PDFMetadata: Objects: 402 FreeObjects: 1 IncrementalUpdates: 0 DocumentCatalog: ViewerPreferences: HideToolbar: false HideMenubar: false HideWindowUI: false FitWindow: false CenterWindow: false DisplayDocTitle: false NonFullScreenPageMode: UseNone Direction: L2R ViewArea: CropBox ViewClip: CropBox PrintArea: CropBox PageClip: CropBox PageLayout: SinglePage PageMode: UseThumbs Language: EN Outlines: Item: Title: X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients Children: Item: Title: Results Children: Item: Title: Allele-specific X chromosome inactivation and XCI skewing in blood samples. Item: Title: Allele-specific X chromosome inactivation and XCI skewing in brain samples. Item: Title: Brain RNA analysis. Item: Title: Discussion Item: Title: Materials and Methods Children: Item: Title: Sample material. Item: Title: Ethical approval and informed consent. Item: Title: HpaII and HinfI digestion. Item: Title: PCR amplification and fragment analysis. Item: Title: Brain RNA analysis. Item: Title: Patient phenotype evaluation and correlation analysis. Item: Title: Acknowledgements Item: Title: Figure 1 Brain RNA Sanger Sequencing. Item: Title: Figure 2 Brain RNA qRT-PCR analysis and comparison with XCI-AS assay results. Item: Title: Table 1 Proportion of patients per mutation with a skewed XCI pattern according to at least one of the two techniques used for assessing XCI (XCI-AR and XCI-AS). Item: Title: Table 2 Data of patients with skewed XCI according to at least one of the two assays. Item: Title: Table 3 Data of patients P109 and P119 with the c. 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