نتائج البحث - "balanced chromosomal rearrangement"

1

مؤتمر

TADeus-a tool for clinical interpretation of structural variants modifying chromatin organization

المؤلفون: Poszewiecka, Barbara, Stankiewicz, Pawel, Gambin, Tomasz, Gambin, Anna

المصدر: 2018 IEEE International Conference on Bioinformatics and Biomedicine (BIBM) Bioinformatics and Biomedicine (BIBM), 2018 IEEE International Conference on. :84-87 Dec, 2018

Relation: 2018 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)

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دورية أكاديمية

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements

المصدر: American Journal of Human Genetics. 101(2)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Human Genome, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Chromosomal Position Effects, Chromosome Breakpoints, Chromosome Mapping, Chromosomes, Human, Gene Expression Regulation, Gene Rearrangement, Genetic Predisposition to Disease, Genetic Variation, Genome, Human, Humans, In Situ Hybridization, Fluorescence, Karyotype, Phenotype, Translocation, Genetic, HPO, balanced chromosomal rearrangement, chromatin conformation, chromosomal rearrangement, chromosomal translocation, clinical genetics, cytogenetics, diagnosis, distal effect, long-range effect, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2d76c6kq

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دورية أكاديمية

Rare 15q21.1q22.31 Duplication Due to a Familial Chromosomal Insertion and Diagnostic Investigation in a Carrier of Balanced Chromosomal Rearrangement and Intellectual Disability

المؤلفون: Carolina Gama Nascimento, Joana Rosa Marques Prota, Ilária Cristina Sgardioli, Samira Spineli-Silva, Nilma Lúcia Viguetti Campos, Vera Lúcia Gil-da-Silva-Lopes, Társis Paiva Vieira

المصدر: Genes, Vol 14, Iss 4, p 885 (2023)

مصطلحات موضوعية: 15q21.1q22.31 duplication, familial chromosomal insertion, balanced chromosomal rearrangement, CYP19A1 gene duplication, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/14/4/885; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/728e6a7a56364ec4b76d8f0d8cf6def9

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4

دورية أكاديمية

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5

Identification of Balanced Chromosomal Rearrangements Previously Unknown Among Participants in the 1000 Genomes Project: Implications for Interpretation of Structural Variation in Genomes and the Future of Clinical Cytogenetics

المؤلفون: Zirui Dong, Sau Wai Cheung, Yvonne K. Kwok, Chunyu Geng, Hui Jiang, Huilin Wang, Zhenzhen Zhu, Cynthia C. Morton, Zhenjun Yang, Haixiao Chen, Wen-Jing Wang, Huangming Yang, Kwong Wai Choy, Jianying Yuan, Xiaosen Guo, Fengping Xu, Ye Cao, Tak Yeung Leung, Wan Chee Cheung

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Chromosomal translocation, Chromosome Disorders, 030105 genetics & heredity, Biology, G-banded chromosome analysis, Genome, Article, Chromosomes, Translocation, Genetic, law.invention, Structural variation, 03 medical and health sciences, law, balanced chromosomal rearrangement, Human Genome Project, medicine, Humans, 1000 Genomes Project, Gene, Genetics (clinical), Polymerase chain reaction, low-pass whole-genome sequencing, Genetics, Chromosome Aberrations, Gene Rearrangement, Whole Genome Sequencing, Cytogenetics, 3. Good health, 030104 developmental biology, Karyotyping, Chromosome Inversion, Cytogenetic Analysis, Identification (biology), the 1000 Genomes Project

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89145f18a918ca77916129754d3bb3c3
http://europepmc.org/articles/PMC5932280

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6

Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes

المصدر: Halgren, C, Nielsen, N M, Nazaryan-Petersen, L, Silahtaroglu, A, Collins, R L, Lowther, C, Kjaergaard, S, Frisch, M, Kirchhoff, M, Brøndum-Nielsen, K, Lind-Thomsen, A, Mang, Y, El-Schich, Z, Boring, C A, Mehrjouy, M M, Jensen, P K A, Fagerberg, C, Krogh, L N, Hansen, J, Bryndorf, T, Hansen, C, Talkowski, M E, Bak, M, Tommerup, N & Bache, I 2018, ' Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes ', American Journal of Human Genetics, vol. 102, no. 6, pp. 1090-1103 . https://doi.org/10.1016/j.ajhg.2018.04.005

مصطلحات موضوعية: 0301 basic medicine, Oncology, Time Factors, Microarray, reciprocal translocation, Chromosomal translocation, long-term follow-up, 030105 genetics & heredity, Cohort Studies, Chromosome Breakpoints, balanced chromosomal rearrangement, Risk Factors, Pregnancy, Prenatal Diagnosis/methods, Prenatal Diagnosis, neurodevelopmental/-psychiatric disorders, Medicine, Genetics (clinical), Conserved Sequence, mate-pair mapping, breakpoint cluster region, clinical recommendations, Cohort, RNA, Long Noncoding, Female, Conserved Sequence/genetics, Cohort study, medicine.medical_specialty, de novo, morbidity risk, Prenatal diagnosis, Article, Evolution, Molecular, 03 medical and health sciences, inversion, Internal medicine, Genetics, Humans, RNA, Long Noncoding/genetics, Chromosome Aberrations, prenatal diagnosis, business.industry, Genome, Human, Sequence Analysis, DNA, medicine.disease, 030104 developmental biology, Karyotyping, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deeaa3ef647552fc0aabb4fe8680b625
https://findresearcher.sdu.dk:8443/ws/files/151868134/main_2_.pdf

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Balanced Chromosomal Rearrangement Detection by Low‐Pass Whole‐Genome Sequencing

المؤلفون: Huilin Wang, Yang Zhenjun, Hui Jiang, Cynthia C. Morton, Jianying Yuan, Kwong Wai Choy, Fang Chen, Xiaosen Guo, Yun Li, Haixiao Chen, Zirui Dong, Sau Wai Cheung, Lingfei Ye, Jun Wang

المصدر: Current Protocols in Human Genetics. 96

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b22f654d502f19c12d56e0c143c4e9b1
https://doi.org/10.1002/cphg.51

View record at Wiley

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Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements

المصدر: American journal of human genetics, vol 101, iss 2
Zepeda-Mendoza, C J, Ibn-Salem, J, Kammin, T, Harris, D J, Rita, D, Gripp, K W, MacKenzie, J J, Gropman, A L, Graham, B H, Shaheen, R, Alkuraya, F S, Brasington, C K, Spence, E J, Masser-Frye, D, Bird, L M, Spiegel, E, Sparkes, R L, Ordulu, Z, Talkowski, M E, Andrade-Navarro, M A, Robinson, P N & Morton, C C 2017, ' Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2017.06.011

مصطلحات موضوعية: 0301 basic medicine, Candidate gene, diagnosis, 030105 genetics & heredity, Medical and Health Sciences, cytogenetics, Translocation, Genetic, chromosomal translocation, Chromosome Breakpoints, chromatin conformation, balanced chromosomal rearrangement, 2.1 Biological and endogenous factors, Chromosomes, Human, Genetics(clinical), Aetiology, Genetics (clinical), In Situ Hybridization, In Situ Hybridization, Fluorescence, long-range effect, Genetics, Genetics & Heredity, Gene Rearrangement, Genome, Chromosome Mapping, Biological Sciences, Chromatin, Position effect, Phenotype, Medical genetics, HPO, Human, distal effect, medicine.medical_specialty, Chromosome engineering, chromosomal rearrangement, Karyotype, Translocation, Chromosomal rearrangement, Biology, Chromosomes, Fluorescence, Article, Chromosomal Position Effects, 03 medical and health sciences, Genetic, Clinical Research, medicine, Humans, Genetic Predisposition to Disease, Gene, Genome, Human, Human Genome, Genetic Variation, 030104 developmental biology, Gene Expression Regulation, Human genome, clinical genetics