المؤلفون: Yilmaz, Feyza, Gurusamy, Umamaheswaran, Mosley, Trenell J, Hallast, Pille, Kim, Kwondo, Mostovoy, Yulia, Purcell, Ryan H, Shaikh, Tamim H, Zwick, Michael E, Kwok, Pui-Yan, Lee, Charles, Mulle, Jennifer G

المصدر: Genome Medicine. 15(1)

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Humans, Segmental Duplications, Genomic, Chromosome Mapping, Genomics, Syndrome, Haplotypes, DNA Copy Number Variations, 3q29, Structural variations, Genomic disorders, Schizophrenia, NAHR, Copy number variant(s), Clinical Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6cv3233cTest

المؤلفون: Variants, Commission on Novel Technologies for Neurodevelopmental Copy Number, Buttermore, Elizabeth, Chamberlain, Stormy, Cody, Jannine, Costain, Gregory, Dang, Louis, DeWoody, Andrew, DeWoody, Yssa, Dies, Kira, Eichler, Evan, Girirajan, Santhosh, Gramm, Marie, Halladay, Alycia, Lal, Dennis, Lalli, Matthew, Levy, Tess, Logsdon, Glennis, Lowenstein, Daniel, Mefford, Heather, Mulle, Jennifer, Muotri, Alysson, Murphy, Melissa, Palma, Eduardo Perez, Pinter, Stefan, Pollak, Rebecca, Purcell, Ryan, Samaco, Rodney, Shah, Bina, Singh, Karun, So, Joyce, Sundberg, Maria, Veeraragavan, Surabi, Vogel-Farley, Vanessa, Wynshaw-Boris, Anthony

المصدر: American Journal of Human Genetics. 109(8)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Intellectual and Developmental Disabilities (IDD), Neurosciences, Brain Disorders, DNA Copy Number Variations, Genome, Humans, Neurodevelopmental Disorders, Patient Advocacy, Phenotype, Commission on Novel Technologies for Neurodevelopmental Copy Number Variants, CNVs, biobank, community engagement, copy-number variants, genomic disorders, iPSCs, inclusion, infrastructure, long-read sequencing, neurodevelopment, neurological, patient centered, patient led, structural variants, systematic phenotyping, team science, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3tc3h13fTest

المؤلفون: Chiara Auwerx, Maarja Jõeloo, Marie C. Sadler, Nicolò Tesio, Sven Ojavee, Charlie J. Clark, Reedik Mägi, Alexandre Reymond, Zoltán Kutalik

مصطلحات موضوعية: Genetics, Structural variation, CNV, GWAS, Time-to-event analysis, Common diseases, Pleiotropy, 16p13.11, 16p11.2, Genomic disorders

العلاقة: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Rare_copy-number_variants_as_modulators_of_common_disease_susceptibility/24955993Test

الإتاحة: https://doi.org/10.6084/m9.figshare.24955993.v1Test
https://figshare.com/articles/journal_contribution/Additional_file_1_of_Rare_copy-number_variants_as_modulators_of_common_disease_susceptibility/24955993Test

المؤلفون: Feyza Yilmaz, Umamaheswaran Gurusamy, Trenell J. Mosley, Pille Hallast, Kwondo Kim, Yulia Mostovoy, Ryan H. Purcell, Tamim H. Shaikh, Michael E. Zwick, Pui-Yan Kwok, Charles Lee, Jennifer G. Mulle

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-17 (2023)

مصطلحات موضوعية: 3q29, Structural variations, Genomic disorders, Schizophrenia, NAHR, Copy number variant(s), Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1756-994XTest

الوصول الحر: https://doaj.org/article/e1441505fb324218b0dd9286ccd86457Test

المؤلفون: Lisanne Vervoort, Joris R. Vermeesch

المصدر: Exploration of Medicine, Vol 4, Iss 2, Pp 166-175 (2023)

مصطلحات موضوعية: genomic disorders, low copy repeats, segmental duplications, Other systems of medicine, RZ201-999

وصف الملف: electronic resource

العلاقة: https://www.explorationpub.com/Journals/em/Article/1001131Test; https://doaj.org/toc/2692-3106Test

الوصول الحر: https://doaj.org/article/48aec05f6eab491582baa9901191bdd9Test

المؤلفون: Gang Peng, Qinghua Zhou, Hongyan Chai, Jiadi Wen, Hongyu Zhao, Hugh S. Taylor, Yong‐Hui Jiang, Peining Li

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 8, Pp n/a-n/a (2023)

مصطلحات موضوعية: chromosome microarray analysis (CMA), genomic disorders, pathogenic copy number variants (pCNVs), pregnancy loss (PL), products of conception (POC), spontaneous abortion (SAB), Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/b6114eb278a54495b6af068716582854Test

المؤلفون: Mostovoy, Yulia, Yilmaz, Feyza, Chow, Stephen K, Chu, Catherine, Lin, Chin, Geiger, Elizabeth A, Meeks, Naomi JL, Chatfield, Kathryn C, Coughlin, Curtis R, Surti, Urvashi, Kwok, Pui-Yan, Shaikh, Tamim H

المصدر: Genetics. 217(2)

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Chromosome Breakpoints, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 16, Craniofacial Abnormalities, Developmental Disabilities, Genomic Structural Variation, Heart Defects, Congenital, Humans, Intellectual Disability, Mental Disorders, Segmental Duplications, Genomic, Seizures, Williams Syndrome, segmental duplications, genome mapping, structural variation, genomic disorders, Developmental Biology, Biochemistry and cell biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/15562671Test

المؤلفون: Alyssa S. Wetzel, Benjamin W. Darbro

المصدر: BMC Genomic Data, Vol 23, Iss 1, Pp 1-3 (2022)

مصطلحات موضوعية: Copy number variant, Microdeletion, Microduplication, Microduplication/microdeletion disorders, Genomic disorders, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2730-6844Test

الوصول الحر: https://doaj.org/article/11d5a9290fc4459481bcf3b716e9e31cTest

المؤلفون: Peng, Gang, Zhou, Qinghua, Chai, Hongyan, Wen, Jiadi, Zhao, Hongyu, Taylor, Hugh S., Jiang, Yong-Hui, Li, Peining

المساهمون: Medical and Molecular Genetics, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Chromosome microarray analysis (CMA), Genomic disorders, Pathogenic copy number variants (pCNVs), Pregnancy loss (PL), Products of conception (POC), Spontaneous abortion (SAB)

وصف الملف: application/pdf

العلاقة: Molecular Genetics & Genomic Medicine; Peng G, Zhou Q, Chai H, et al. Estimation on risk of spontaneous abortions by genomic disorders from a meta-analysis of microarray results on large case series of pregnancy losses. Mol Genet Genomic Med. 2023;11(8):e2181. doi:10.1002/mgg3.2181; https://hdl.handle.net/1805/38602Test

الإتاحة: https://doi.org/10.1002/mgg3.2181Test
https://hdl.handle.net/1805/38602Test

المؤلفون: Katalin Komlósi, Attila Gyenesei, Judit Bene

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: copy number variation (CNV), rare disorders, genomic disorders, Mendelian disease, genomic rearrangement, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.898059/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/049ecdf2784c4eaf8ad4ae33d1b8b719Test