25ce7f530a3445fd9fdae9d9330ed35d pmc_25407002.pdf 011440649049db3dc5e5282847a35d611f39fbeb pmc_25407002.pdf e19c807dedce429ba84a4211b85ae4a6e8c6467cde81e68c2d00c2db42d16db9 pmc_25407002.pdf Title: Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity Subject: European Journal of Human Genetics 23, 1192 (2015). doi:10.1038/ejhg.2014.252 Author: Gemma Bullich Creator: Arbortext Advanced Print Publisher 10.0.1465/W Unicode Producer: Acrobat Distiller 8.1.0 (Windows) CreationDate: Sat Jul 18 00:11:49 2015 CEST ModDate: Wed Jul 29 14:40:51 2015 CEST Tagged: no UserProperties: no Suspects: no Form: AcroForm JavaScript: no Pages: 8 Encrypted: no Page size: 595.276 x 793.701 pts Page rot: 0 File size: 455167 bytes Optimized: yes PDF version: 1.6 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- KPPKPK+AdvOT8608a8d1+03 Type 1C Custom yes yes yes 246 0 KPPLAK+AdvOTd710a12c Type 1C WinAnsi yes yes no 253 0 KPPLBL+AdvOTd710a12c+20 Type 1C WinAnsi yes yes no 255 0 KPPLOH+AdvTA42 Type 1C WinAnsi yes yes no 257 0 KPPKNA+AdvOTa018106b.B Type 1C WinAnsi yes yes no 223 0 KPPKNB+AdvOTa018106b.B+fb Type 1C Custom yes yes yes 219 0 KPPKNC+AdvOTfacbc49f Type 1C WinAnsi yes yes no 225 0 KPPKOC+AdvOT08549422.BI Type 1C WinAnsi yes yes no 226 0 KPPKOD+AdvOT60b39377.I Type 1C WinAnsi yes yes no 231 0 KPPKOE+AdvOT53f3fec7 Type 1C WinAnsi yes yes no 232 0 KPPKOF+AdvOT53f3fec7+20 Type 1C WinAnsi yes yes no 230 0 KPPKOG+AdvOT77db9845 Type 1C WinAnsi yes yes no 233 0 KPPKOH+AdvOT77db9845+20 Type 1C WinAnsi yes yes no 234 0 KPPKPI+AdvOT77db9845+fb Type 1C Custom yes yes yes 235 0 KPPKPJ+AdvOT255b5711.I Type 1C WinAnsi yes yes no 247 0 KPPMCH+AdvOT3bbb1fa6.B Type 1C WinAnsi yes yes no 88 0 KPPMDH+AdvOT8608a8d1 Type 1C WinAnsi yes yes no 82 0 KPPMEI+AdvOT8608a8d1+20 Type 1C Custom yes yes yes 85 0 KPPMFJ+AdvOT8608a8d1+22 Type 1C Custom yes yes yes 86 0 KPPMHJ+AdvOT77db9845+22 Type 1C Custom yes yes no 74 0 KPPNGE+AdvNewsGothicR Type 1C WinAnsi yes yes no 90 0 KPPNOC+AdvPi1 Type 1C WinAnsi yes yes no 93 0 KPPOCC+AdvOT53f3fec7+fb Type 1C Custom yes yes yes 91 0 KPPPBN+AdvOT53f3fec7+22 Type 1C Custom yes yes no 100 0 KPPPFM+AdvOT8608a8d1+21 Type 1C Custom yes yes yes 99 0 LAAGDD+Helvetica Type 1C WinAnsi yes yes no 103 0 LAAGEE+Helvetica-BoldOblique Type 1C WinAnsi yes yes no 104 0 LAAGFE+Helvetica-Bold Type 1C WinAnsi yes yes no 101 0 Jhove (Rel. 1.6, 2011-01-04) Date: 2018-09-01 04:38:47 CEST RepresentationInformation: pmc_25407002.pdf ReportingModule: PDF-hul, Rel. 1.8 (2009-05-22) LastModified: 2018-01-29 05:42:38 CET Size: 455167 Format: PDF Version: 1.6 Status: Well-Formed and valid SignatureMatches: PDF-hul MIMEtype: application/pdf Profile: Linearized PDF PDFMetadata: Objects: 284 FreeObjects: 1 IncrementalUpdates: 1 DocumentCatalog: PageLayout: SinglePage PageMode: UseNone Outlines: Item: Title: Introduction Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@7c53a9eb Children: Item: Title: Introduction Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@ed17bee Item: Title: Materials and methods Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@2a33fae0 Children: Item: Title: Patients Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@707f7052 Item: Title: Sequencing and data analyses Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@11028347 Item: Title: Evaluation of the pathogenicity of the variants Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@14899482 Item: Title: Results Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@21588809 Children: Item: Title: Validation of the technology Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@2aae9190 Item: Title: Sequence variants in NS genes in the discovery cohort Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@2f333739 Item: Title: Phenotypic effect of mutations in multiple glomerular genes Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@77468bd9 Item: Title: Table 1 Panel of genes involved in inherited glomerular diseases Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@12bb4df8 Item: Title: Table 2 Overview of genotypic data obtained by next-generation sequencing Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@4cc77c2e Item: Title: Table 2 Overview of genotypic data obtained by next-generation sequencing Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@7a7b0070 Item: Title: Discussion Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@39a054a5 Item: Title: Figure 1 Pedigrees of two families with mutations in an SRNS/FSGS gene and COL4A3. Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@71bc1ae4 Item: Title: Figure 1 Pedigrees of two families with mutations in an SRNS/FSGS gene and COL4A3. Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@6ed3ef1 Item: Title: ACKNOWLEDGEMENTS Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@2437c6dc Info: Title: Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity Author: Gemma Bullich Subject: European Journal of Human Genetics 23, 1192 (2015). doi:10.1038/ejhg.2014.252 Creator: Arbortext Advanced Print Publisher 10.0.1465/W Unicode Producer: Acrobat Distiller 8.1.0 (Windows) CreationDate: Sat Jul 18 00:11:49 CEST 2015 ModDate: Wed Jul 29 15:10:51 CEST 2015 ID: 0x64f297e5b355e4e9b5dfc0a789b1ed79, 0x87753f89c720404c90b9836200f6df4d Filters: FilterPipeline: FlateDecode FilterPipeline: DCTDecode Images: Image: NisoImageMetadata: CompressionScheme: JPEG ImageWidth: 2552 ImageHeight: 552 BitsPerSample: 8 BitsPerSampleUnit: integer Image: NisoImageMetadata: ImageWidth: 80 ImageHeight: 75 BitsPerSample: 8 BitsPerSampleUnit: integer Filter: FlateDecode Fonts: Type1: Font: BaseFont: KPPLOH+AdvTA42 FontSubset: true FirstChar: 38 LastChar: 38 FontDescriptor: FontName: KPPLOH+AdvTA42 Flags: Nonsymbolic FontBBox: -72, -145, 875, 718 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: KPPMHJ+AdvOT77db9845+22 FontSubset: true FirstChar: 21 LastChar: 21 FontDescriptor: FontName: KPPMHJ+AdvOT77db9845+22 Flags: Nonsymbolic FontBBox: 40, 249, 562, 291 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true Font: BaseFont: KPPMDH+AdvOT8608a8d1 FontSubset: true FirstChar: 61 LastChar: 177 FontDescriptor: FontName: KPPMDH+AdvOT8608a8d1 Flags: Nonsymbolic FontBBox: -62, -208, 927, 958 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: KPPMEI+AdvOT8608a8d1+20 FontSubset: true FirstChar: 1 LastChar: 1 FontDescriptor: FontName: KPPMEI+AdvOT8608a8d1+20 Flags: Symbolic FontBBox: -968, -333, 2000, 1020 FontFile3: true EncodingDictionary: Differences: true ToUnicode: true Font: BaseFont: KPPMFJ+AdvOT8608a8d1+22 FontSubset: true FirstChar: 1 LastChar: 3 FontDescriptor: FontName: KPPMFJ+AdvOT8608a8d1+22 Flags: Symbolic FontBBox: 0, -322, 1218, 968 FontFile3: true EncodingDictionary: Differences: true ToUnicode: true Font: BaseFont: KPPMCH+AdvOT3bbb1fa6.B FontSubset: true FirstChar: 69 LastChar: 121 FontDescriptor: FontName: KPPMCH+AdvOT3bbb1fa6.B Flags: Serif, Nonsymbolic FontBBox: -20, -250, 958, 822 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: KPPNGE+AdvNewsGothicR FontSubset: true FirstChar: 49 LastChar: 57 FontDescriptor: FontName: KPPNGE+AdvNewsGothicR Flags: Nonsymbolic FontBBox: -156, -229, 1218, 812 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: KPPKNB+AdvOTa018106b.B+fb FontSubset: true FirstChar: 1 LastChar: 3 FontDescriptor: FontName: KPPKNB+AdvOTa018106b.B+fb Flags: Symbolic FontBBox: 0, 0, 500, 729 FontFile3: true EncodingDictionary: Differences: true ToUnicode: true Font: BaseFont: KPPOCC+AdvOT53f3fec7+fb FontSubset: true FirstChar: 1 LastChar: 1 FontDescriptor: FontName: KPPOCC+AdvOT53f3fec7+fb Flags: Symbolic FontBBox: 0, 0, 500, 729 FontFile3: true EncodingDictionary: Differences: true ToUnicode: true Font: BaseFont: KPPNOC+AdvPi1 FontSubset: true FirstChar: 52 LastChar: 52 FontDescriptor: FontName: KPPNOC+AdvPi1 Flags: Nonsymbolic FontBBox: 13, -323, 958, 824 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: KPPKNA+AdvOTa018106b.B FontSubset: true FirstChar: 40 LastChar: 122 FontDescriptor: FontName: KPPKNA+AdvOTa018106b.B Flags: Nonsymbolic FontBBox: -31, -218, 895, 968 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: KPPKNC+AdvOTfacbc49f FontSubset: true FirstChar: 42 LastChar: 237 FontDescriptor: FontName: KPPKNC+AdvOTfacbc49f Flags: Serif, Nonsymbolic FontBBox: -31, -250, 947, 822 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: KPPKOC+AdvOT08549422.BI FontSubset: true FirstChar: 49 LastChar: 87 FontDescriptor: FontName: KPPKOC+AdvOT08549422.BI Flags: Nonsymbolic FontBBox: -31, -270, 1052, 968 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: KPPPFM+AdvOT8608a8d1+21 FontSubset: true FirstChar: 1 LastChar: 1 FontDescriptor: FontName: KPPPFM+AdvOT8608a8d1+21 Flags: Symbolic FontBBox: -93, -250, 1145, 864 FontFile3: true EncodingDictionary: Differences: true ToUnicode: true Font: BaseFont: KPPPBN+AdvOT53f3fec7+22 FontSubset: true FirstChar: 21 LastChar: 21 FontDescriptor: FontName: KPPPBN+AdvOT53f3fec7+22 Flags: Nonsymbolic FontBBox: -166, -156, 770, 864 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true Font: BaseFont: LAAGFE+Helvetica-Bold FontSubset: true FirstChar: 32 LastChar: 121 FontDescriptor: FontName: LAAGFE+Helvetica-Bold Flags: Nonsymbolic, ForceBold FontBBox: -170, -228, 1003, 962 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: KPPKOF+AdvOT53f3fec7+20 FontSubset: true FirstChar: 146 LastChar: 151 FontDescriptor: FontName: KPPKOF+AdvOT53f3fec7+20 Flags: Nonsymbolic FontBBox: -166, -135, 1000, 729 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: KPPKOD+AdvOT60b39377.I FontSubset: true FirstChar: 40 LastChar: 121 FontDescriptor: FontName: KPPKOD+AdvOT60b39377.I Flags: Nonsymbolic FontBBox: -20, -281, 1083, 958 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: LAAGDD+Helvetica FontSubset: true FirstChar: 32 LastChar: 114 FontDescriptor: FontName: LAAGDD+Helvetica Flags: Nonsymbolic FontBBox: -166, -225, 1000, 931 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: KPPKOE+AdvOT53f3fec7 FontSubset: true FirstChar: 39 LastChar: 246 FontDescriptor: FontName: KPPKOE+AdvOT53f3fec7 Flags: Nonsymbolic FontBBox: -10, -218, 947, 958 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: LAAGEE+Helvetica-BoldOblique FontSubset: true FirstChar: 32 LastChar: 83 FontDescriptor: FontName: LAAGEE+Helvetica-BoldOblique Flags: Nonsymbolic, Italic, ForceBold FontBBox: -174, -228, 1114, 962 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: KPPKOG+AdvOT77db9845 FontSubset: true FirstChar: 37 LastChar: 243 FontDescriptor: FontName: KPPKOG+AdvOT77db9845 Flags: Serif, Nonsymbolic FontBBox: -41, -250, 937, 802 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: KPPKOH+AdvOT77db9845+20 FontSubset: true FirstChar: 146 LastChar: 151 FontDescriptor: FontName: KPPKOH+AdvOT77db9845+20 Flags: Nonsymbolic FontBBox: -135, -135, 1093, 708 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: KPPKPI+AdvOT77db9845+fb FontSubset: true FirstChar: 1 LastChar: 3 FontDescriptor: FontName: KPPKPI+AdvOT77db9845+fb Flags: Symbolic FontBBox: 19, 0, 531, 708 FontFile3: true EncodingDictionary: Differences: true ToUnicode: true Font: BaseFont: KPPKPK+AdvOT8608a8d1+03 FontSubset: true FirstChar: 1 LastChar: 1 FontDescriptor: FontName: KPPKPK+AdvOT8608a8d1+03 Flags: Symbolic FontBBox: -479, -364, 854, 927 FontFile3: true EncodingDictionary: Differences: true ToUnicode: true Font: BaseFont: KPPKPJ+AdvOT255b5711.I FontSubset: true FirstChar: 49 LastChar: 118 FontDescriptor: FontName: KPPKPJ+AdvOT255b5711.I Flags: Nonsymbolic FontBBox: -93, -250, 989, 802 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: KPPLAK+AdvOTd710a12c FontSubset: true FirstChar: 40 LastChar: 243 FontDescriptor: FontName: KPPLAK+AdvOTd710a12c Flags: Nonsymbolic FontBBox: -31, -208, 895, 947 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: KPPLBL+AdvOTd710a12c+20 FontSubset: true FirstChar: 146 LastChar: 146 FontDescriptor: FontName: KPPLBL+AdvOTd710a12c+20 Flags: Nonsymbolic FontBBox: -166, -145, 1000, 729 FontFile3: true Encoding: WinAnsiEncoding XMP: application/pdf doi:10.1038/ejhg.2014.252 Gemma Bullich Daniel Trujillano Sheila Santín Stephan Ossowski Santiago Mendizábal Gloria Fraga Álvaro Madrid Gema Ariceta José Ballarín Roser Torra Xavier Estivill Elisabet Ars European Journal of Human Genetics 23, 1192 (2015). doi:10.1038/ejhg.2014.252 Nature Publishing Group © 2015 Macmillan Publishers Limited Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity Acrobat Distiller 8.1.0 (Windows) © 10.1038/ejhg.2014.252 1476-5438 1199 1018-4813 9 permissions@nature.com 1192 23 2014-11-19 http://dx.doi.org/10.1038/ejhg.2014.252 2015-07-17T22:11:49Z Arbortext Advanced Print Publisher 10.0.1465/W Unicode European Journal of Human Genetics 23, 1192 (2014). doi:10.1038/ejhg.2014.252 2015-07-29T18:10:51+05:30 2015-07-29T18:10:51+05:30 doi:10.1038/ejhg.2014.252 True uuid:1e1fa48c-b976-420b-b68d-97dcfe7d3840 uuid:811fa41a-a9c5-48e8-b509-f7ebdac932a6 Pages: Page: Label: 1 Annotations: Annotation: Subtype: Link Rect: 311, 420, 407, 429 Annotation: Subtype: Link Rect: 73, 66, 149, 73 Annotation: Subtype: Link Rect: 236, 738, 299, 745 Thumb: true Page: Label: 2 Annotations: Annotation: Subtype: Link Rect: 101, 330, 124, 338 Destination: 20 Annotation: Subtype: Link Rect: 149, 139, 241, 147 Annotation: Subtype: Link Rect: 87, 129, 175, 137 Annotation: Subtype: Link Rect: 93, 99, 158, 107 Annotation: Subtype: Link Rect: 381, 411, 495, 419 Annotation: Subtype: Link Rect: 490, 367, 517, 376 Destination: 20 Annotation: Subtype: Link Rect: 298, 268, 324, 277 Destination: 20 Annotation: Subtype: Link Rect: 509, 57, 538, 66 Destination: 26 Thumb: true Page: Label: 3 Annotations: Annotation: Subtype: Link Rect: 226, 80, 253, 89 Destination: 20 Thumb: true Page: Label: 4 Thumb: true Page: Label: 5 Annotations: Annotation: Subtype: Link Rect: 150, 682, 177, 691 Destination: 26 Annotation: Subtype: Link Rect: 54, 528, 87, 537 Destination: 46 Annotation: Subtype: Link Rect: 161, 342, 195, 351 Destination: 46 Annotation: Subtype: Link Rect: 366, 90, 395, 99 Destination: 46 Thumb: true Page: Label: 6 Thumb: true Page: Label: 7 Thumb: true Page: Label: 8 Thumb: true Checksum: 6a4a0096 Type: CRC32 Checksum: 25ce7f530a3445fd9fdae9d9330ed35d Type: MD5 Checksum: 011440649049db3dc5e5282847a35d611f39fbeb Type: SHA-1