-
1Academic Journal
المؤلفون: Hui Wang, Timothy S. Chang, Beth A. Dombroski, Po-Liang Cheng, Vishakha Patil, Leopoldo Valiente-Banuet, Kurt Farrell, Catriona Mclean, Laura Molina-Porcel, Alex Rajput, Peter Paul De Deyn, Nathalie Le Bastard, Marla Gearing, Laura Donker Kaat, John C. Van Swieten, Elise Dopper, Bernardino F. Ghetti, Kathy L. Newell, Claire Troakes, Justo G. de Yébenes, Alberto Rábano-Gutierrez, Tina Meller, Wolfgang H. Oertel, Gesine Respondek, Maria Stamelou, Thomas Arzberger, Sigrun Roeber, Ulrich Müller, Franziska Hopfner, Pau Pastor, Alexis Brice, Alexandra Durr, Isabelle Le Ber, Thomas G. Beach, Geidy E. Serrano, Lili-Naz Hazrati, Irene Litvan, Rosa Rademakers, Owen A. Ross, Douglas Galasko, Adam L. Boxer, Bruce L. Miller, Willian W. Seeley, Vivanna M. Van Deerlin, Edward B. Lee, Charles L. White, Huw Morris, Rohan de Silva, John F. Crary, Alison M. Goate, Jeffrey S. Friedman, Yuk Yee Leung, Giovanni Coppola, Adam C. Naj, Li-San Wang, P. S. P. genetics study group, Clifton Dalgard, Dennis W. Dickson, Günter U. Höglinger, Gerard D. Schellenberg, Daniel H. Geschwind, Wan-Ping Lee
المصدر: Molecular Neurodegeneration, Vol 19, Iss 1, Pp 1-16 (2024)
مصطلحات موضوعية: Progressive Supranuclear Palsy (PSP), Whole-Genome Sequencing (WGS), Genome-Wide Association Study (GWAS), Structural Variants (SVs), Apolipoprotein E (APOE), Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1326
-
2Academic Journal
المؤلفون: Wang, Hui, Chang, Timothy S., Dombroski, Beth A., Cheng, Po-Liang, Patil, Vishakha, Valiente-Banuet, Leopoldo, Farrell, Kurt, Mclean, Catriona, Molina-Porcel, Laura, Rajput, Alex, De Deyn, Peter Paul, Le Bastard, Nathalie, Gearing, Marla, Donker Kaat, Laura, Van Swieten, John C., Dopper, Elise, Ghetti, Bernardino F., Newell, Kathy L., Troakes, Claire, de Yébenes, Justo G., Rábano-Gutierrez, Alberto, Meller, Tina, Oertel, Wolfgang H., Respondek, Gesine, Stamelou, Maria, Arzberger, Thomas, Roeber, Sigrun, Müller, Ulrich, Hopfner, Franziska, Pastor, Pau, Brice, Alexis, Durr, Alexandra, Le Ber, Isabelle, Beach, Thomas G., Serrano, Geidy E., Hazrati, Lili-Naz, Litvan, Irene, Rademakers, Rosa, Ross, Owen A., Galasko, Douglas, Boxer, Adam L., Miller, Bruce L., Seeley, Willian W., Van Deerlin, Vivanna M., Lee, Edward B., White, Charles L., III, Morris, Huw, de Silva, Rohan, Crary, John F., Goate, Alison M., Friedman, Jeffrey S., Leung, Yuk Yee, Coppola, Giovanni, Naj, Adam C., Wang, Li-San, P. S. P. genetics study group, Dalgard, Clifton, Dickson, Dennis W., Höglinger, Günter U., Schellenberg, Gerard D., Geschwind, Daniel H., Lee, Wan-Ping
المساهمون: Pathology and Laboratory Medicine, School of Medicine
المصدر: PMC
مصطلحات موضوعية: Apolipoprotein E (APOE), Genome-Wide Association Study (GWAS), Progressive Supranuclear Palsy (PSP), Structural Variants (SVs), Whole-Genome Sequencing (WGS)
وصف الملف: application/pdf
Relation: Molecular Neurodegeneration; https://hdl.handle.net/1805/43969
الاتاحة: https://hdl.handle.net/1805/43969
-
3Academic Journal
المؤلفون: Wang, Hui, Chang, Timothy S., Dombroski, Beth A., Cheng, Po-Liang, Patil, Vishakha, Valiente-Banuet, Leopoldo, Farrell, Kurt, Mclean, Catriona, Molina-Porcel, Laura, Rajput, Alex, De Deyn, Peter Paul, Le Bastard, Nathalie, Gearing, Marla, Donker Kaat, Laura, Van Swieten, John C., Dopper, Elise, Ghetti, Bernardino F., Newell, Kathy L., Troakes, Claire, de Yébenes, Justo G., Rábano-Gutierrez, Alberto, Meller, Tina, Oertel, Wolfgang H., Respondek, Gesine, Stamelou, Maria, Arzberger, Thomas, Roeber, Sigrun, Müller, Ulrich, Hopfner, Franziska, Pastor, Pau, Brice, Alexis, Durr, Alexandra, Le Ber, Isabelle, Beach, Thomas G., Serrano, Geidy E., Hazrati, Lili-Naz, Litvan, Irene, Rademakers, Rosa, Ross, Owen A., Galasko, Douglas, Boxer, Adam L., Miller, Bruce L., Seeley, Willian W., Van Deerlin, Vivanna M., Lee, Edward B., White, Charles L., III, Morris, Huw, de Silva, Rohan, Crary, John F., Goate, Alison M., Friedman, Jeffrey S., Leung, Yuk Yee, Coppola, Giovanni, Naj, Adam C., Wang, Li-San, P. S. P. genetics study group, Dalgard, Clifton, Dickson, Dennis W., Höglinger, Günter U., Schellenberg, Gerard D., Geschwind, Daniel H., Lee, Wan-Ping
المساهمون: Pathology and Laboratory Medicine, School of Medicine
المصدر: PMC
مصطلحات موضوعية: Progressive Supranuclear Palsy (PSP), Whole-Genome Sequencing (WGS), Genome-Wide Association Study (GWAS), Structural Variants (SVs), Apolipoprotein E (APOE)
وصف الملف: application/pdf
Relation: Molecular Neurodegeneration; https://hdl.handle.net/1805/44603
الاتاحة: https://hdl.handle.net/1805/44603
-
4Academic Journal
المؤلفون: Lucia Gallego Villarejo, Wanda M. Gerding, Lisa Bachmann, Luzie H. I. Hardt, Stefan Bormann, Huu Phuc Nguyen, Thorsten Müller
المصدر: Cells, Vol 13, Iss 6, p 507 (2024)
مصطلحات موضوعية: optical genome mapping, human induced pluripotent stem cells (hiPSC), cerebral organoids, CRISPR, gene editing, structural variants (SVs), Cytology, QH573-671
Relation: https://www.mdpi.com/2073-4409/13/6/507; https://doaj.org/toc/2073-4409; https://doaj.org/article/ffee5518c4274284ae0832298b5b4eba
-
5Academic Journal
المؤلفون: Ludmila Kaplun, Greice Krautz-Peterson, Nir Neerman, Christine Stanley, Shane Hussey, Margo Folwick, Ava McGarry, Shirel Weiss, Alexander Kaplun
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: long read sequencing, structural variants (SVs), orthogonal variant confirmation, clinical genetic testing, whole genome sequencing (WGS), oxford nanopore technologies (ONT), Genetics, QH426-470
وصف الملف: electronic resource
-
6Academic Journal
المؤلفون: Flynn, J.M., Ahmed-Braimah, Y.H., Long, M., Wing, R.A., Clark, A.G.
المساهمون: School of Plant Sciences, Arizona Genomics Institute, University of Arizona
المصدر: Genome Biology and Evolution
مصطلحات موضوعية: comparative genomics, inversions, structural variants (SVs), tandem repeats, transposable elements (TEs), Y chromosome
Relation: Jullien M Flynn, Yasir H Ahmed-Braimah, Manyuan Long, Rod A Wing, Andrew G Clark, High-Quality Genome Assemblies Reveal Evolutionary Dynamics of Repetitive DNA and Structural Rearrangements in the Drosophila virilis Subgroup, Genome Biology and Evolution, Volume 16, Issue 1, January 2024, evad238, https://doi.org/10.1093/gbe/evad238; http://hdl.handle.net/10150/671705; Genome Biology and Evolution
-
7Academic Journal
المؤلفون: Farrar, Gwyneth
مصطلحات موضوعية: Optical genome mapping, Structural variants (SVs), inherited retinal diseases (IRD), Short-read genome sequencing, Next-generation sequencing
Relation: Genetics in Medicine; 100345; de Bruijn, S.E. and Rodenburg, K. and Corominas, J. and Ben-Yosef, T. and Reurink, J. and Kremer, H. and Whelan, L. and Plomp, A.S. and Berger, W. and Farrar, G.J. and Ferenc Kov??cs, ??. and Fajardy, I. and Hitti-Malin, R.J. and Weisschuh, N. and Weener, M.E. and Sharon, D. and Pennings, R.J.E. and Haer-Wigman, L. and Hoyng, C.B. and Nelen, M.R. and Vissers, L.E.L.M. and van den Born, L.I. and Gilissen, C. and Cremers, F.P.M. and Hoischen, A. and Neveling, K. and Roosing, S., Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes, Genetics in Medicine, 2023 Mar;25(3):100345; Y; http://hdl.handle.net/2262/102709; http://people.tcd.ie/gjfarrar; 251066; http://dx.doi.org/10.1016/j.gim.2022.11.013
-
8Academic Journal
المؤلفون: Xiaoan Ke, Hongbo Yang, Hui Pan, Yulin Jiang, Mengmeng Li, Hanzhe Zhang, Na Hao, Huijuan Zhu
المصدر: Genes; Volume 14; Issue 5; Pages: 1016
مصطلحات موضوعية: optical genome mapping (OGM), short stature, genomic structural variants (SVs), duplication
جغرافية الموضوع: agris
وصف الملف: application/pdf
Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14051016
-
9Academic Journal
المؤلفون: Zeuli, Roberta, Karali, Marianthi, de Bruijn, Suzanne E, Rodenburg, Kim, Scarpato, Margherita, Capasso, Dalila, Astuti, Galuh D N, Gilissen, Christian, Rodríguez-Hidalgo, María, Ruiz-Ederra, Javier, Testa, Francesco, Simonelli, Francesca, Cremers, Frans P M, Banfi, Sandro, Roosing, Susanne
المساهمون: Zeuli, Roberta, Karali, Marianthi, de Bruijn, Suzanne E, Rodenburg, Kim, Scarpato, Margherita, Capasso, Dalila, Astuti, Galuh D N, Gilissen, Christian, Rodríguez-Hidalgo, María, Ruiz-Ederra, Javier, Testa, Francesco, Simonelli, Francesca, Cremers, Frans P M, Banfi, Sandro, Roosing, Susanne
مصطلحات موضوعية: Inherited retinal diseases (IRD), Unsolved monoallelic case, WGS, deep-intronic variants (DIVs), structural variants (SVs)
Relation: info:eu-repo/semantics/altIdentifier/pmid/38816995; journal:HGG ADVANCES; https://hdl.handle.net/11591/527669
-
10Academic Journal
المؤلفون: Atlas Khan, Qian Liu, Kai Wang
المصدر: BMC Bioinformatics, Vol 19, Iss S17, Pp 95-107 (2018)
مصطلحات موضوعية: Structural variants (SVs), Single nucleotide variants (SNVs), Machine learning, Deep neural network, Mental disorders, Personal genome, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5
وصف الملف: electronic resource
-
11
-
12Image
المؤلفون: Rossella Piras, Elisabetta Valoti, Marta Alberti, Elena Bresin, Caterina Mele, Matteo Breno, Lucia Liguori, Roberta Donadelli, Miriam Rigoldi, Ariela Benigni, Giuseppe Remuzzi, Marina Noris
مصطلحات موضوعية: Immunology, Applied Immunology (incl. Antibody Engineering, Xenotransplantation and T-cell Therapies), Autoimmunity, Cellular Immunology, Humoural Immunology and Immunochemistry, Immunogenetics (incl. Genetic Immunology), Innate Immunity, Transplantation Immunology, Tumour Immunology, Immunology not elsewhere classified, Genetic Immunology, Animal Immunology, Veterinary Immunology, atypical hemolytic uremic syndrome (aHUS), eculizumab, factor H (FH), factor H-related proteins (FHRs), complement, copy number variations (CNVs), structural variants (SVs), single molecule real-time (SMRT)
-
13
المؤلفون: Rossella Piras, Elisabetta Valoti, Marta Alberti, Elena Bresin, Caterina Mele, Matteo Breno, Lucia Liguori, Roberta Donadelli, Miriam Rigoldi, Ariela Benigni, Giuseppe Remuzzi, Marina Noris
مصطلحات موضوعية: Immunology, Applied Immunology (incl. Antibody Engineering, Xenotransplantation and T-cell Therapies), Autoimmunity, Cellular Immunology, Humoural Immunology and Immunochemistry, Immunogenetics (incl. Genetic Immunology), Innate Immunity, Transplantation Immunology, Tumour Immunology, Immunology not elsewhere classified, Genetic Immunology, Animal Immunology, Veterinary Immunology, atypical hemolytic uremic syndrome (aHUS), eculizumab, factor H (FH), factor H-related proteins (FHRs), complement, copy number variations (CNVs), structural variants (SVs), single molecule real-time (SMRT)
-
14
المؤلفون: Ludmila Kaplun, Greice Krautz-Peterson, Nir Neerman, Christine Stanley, Shane Hussey, Margo Folwick, Ava McGarry, Shirel Weiss, Alexander Kaplun
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, long read sequencing, structural variants (SVs), orthogonal variant confirmation, clinical genetic testing, whole genome sequencing (WGS), oxford nanopore technologies (ONT), small sequence changes (SSCs)
-
15Academic Journal
المؤلفون: Cretu Stancu, Mircea, Van Roosmalen, Markus J, Renkens, Ivo, Nieboer, Marleen M, Middelkamp, Sjors, De Ligt, Joep, Pregno, Giulia, Giachino, Daniela, Mandrile, Giorgia, Espejo Valle-inclan, Jose, Korzelius, Jerome, De Bruijn, Ewart, Cuppen, Edwin, Talkowski, Michael E, Marschall, Tobias, De Ridder, Jeroen, Kloosterman, Wigard P.
المساهمون: Cretu Stancu, Mircea, Van Roosmalen, Markus J, Renkens, Ivo, Nieboer, Marleen M, Middelkamp, Sjor, De Ligt, Joep, Pregno, Giulia, Giachino, Daniela Francesca, Mandrile, Giorgia, Espejo Valle-inclan, Jose, Korzelius, Jerome, De Bruijn, Ewart, Cuppen, Edwin, Talkowski, Michael E, Marschall, Tobia, De Ridder, Jeroen, Kloosterman, Wigard P.
مصطلحات موضوعية: chromothripsis, structural variants (SVs), MinION nanopore sequencer, long-read sequencing
Relation: info:eu-repo/semantics/altIdentifier/pmid/29109544; info:eu-repo/semantics/altIdentifier/wos/WOS:000414422100011; volume:8; issue:1; firstpage:1326_1; lastpage:1326_13; numberofpages:13; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/2318/1651455; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85032888616; https://www.nature.com/articles/s41467-017-01343-4.pdf; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673902/
-
16
المؤلفون: Piras Rossella, Valoti Elisabetta, Bresin Elena, Donadelli Roberta, Mele Caterina, Iatropoulos Paraskevas
المساهمون: Breno Matteo, Alberti Marta, Cuccarolo Paola, Noris Marina, Richard J.H. Smith, Benigni Ariela, Remuzzi Giuseppe
مصطلحات موضوعية: C3 glomerulonephritis (C3GN), Dense Deposit Disease (DDD), Immune Complex-Mediated Membranoproliferative Glomerulonephritis (IC-MPGN), Copy Number Variations (CNVs), Structural Variants (SVs), C3-nephritic factors (C3NeFs)
-
17
المؤلفون: Rossella Piras, Giuseppe Remuzzi, Roberta Donadelli, Paola Cuccarolo, Marta Alberti, Caterina Mele, Richard J.H. Smith, Matteo Breno, Elena Bresin, Marina Noris, Ariela Benigni, Elisabetta Valoti, Paraskevas Iatropoulos
المصدر: Frontiers in Genetics, Vol 12 (2021)
Frontiers in Geneticsمصطلحات موضوعية: copy number variations (CNVs), 0301 basic medicine, 030232 urology & nephrology, Complement factor I, QH426-470, Biology, Complement factor B, 03 medical and health sciences, 0302 clinical medicine, Glomerulopathy, Membranoproliferative glomerulonephritis, Genetics, medicine, complement, Multiplex ligation-dependent probe amplification, Copy-number variation, Genetics (clinical), Original Research, factor H-related proteins (FHRs), C3 glomerulopathy (C3G), medicine.disease, immune complex-mediated membranoproliferative glomerulonephritis (IC-MPGN), 030104 developmental biology, Factor H, Alternative complement pathway, factor H (FH), Molecular Medicine, single molecule real-time (SMRT), structural variants (SVs)
-
18Image
المؤلفون: Rossella Piras (5854076), Matteo Breno (469257), Elisabetta Valoti (5854082), Marta Alberti (9593648), Paraskevas Iatropoulos (5854079), Caterina Mele (232574), Elena Bresin (9593642), Roberta Donadelli (5854070), Paola Cuccarolo (616190), Richard J. H. Smith (10957842), Ariela Benigni (114455), Giuseppe Remuzzi (180748), Marina Noris (2278702)
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, C3 glomerulopathy (C3G), immune complex-mediated membranoproliferative glomerulonephritis (IC-MPGN), factor H (FH), factor H-related proteins (FHRs), complement, copy number variations (CNVs), structural variants (SVs), single molecule real-time (SMRT)
-
19
المؤلفون: Josué Barrera-Redondo (6369428), Guillermo Sánchez-de la Vega (5039594), Jonás A. Aguirre-Liguori (6868541), Gabriela Castellanos-Morales (3251952), Yocelyn Gutierrez-Guerrero (10524518), Xitlali Aguirre-Dugua (2832143), Erika Aguirre-Planter (5039591), Maud I. Tenaillon (119754), Rafael Lira-Saade (5039603), Luis E. Eguiarte (8026820)
مصطلحات موضوعية: Genomics, squash, Population genomic analyses, Mesoamerica, Structural variants (SVs), introgression analyses
-
20Image
المؤلفون: Rossella Piras, Matteo Breno, Elisabetta Valoti, Marta Alberti, Paraskevas Iatropoulos, Caterina Mele, Elena Bresin, Roberta Donadelli, Paola Cuccarolo, Richard J. H. Smith, Ariela Benigni, Giuseppe Remuzzi, Marina Noris
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, C3 glomerulopathy (C3G), immune complex-mediated membranoproliferative glomerulonephritis (IC-MPGN), factor H (FH), factor H-related proteins (FHRs), complement, copy number variations (CNVs), structural variants (SVs), single molecule real-time (SMRT)