نتائج البحث - "Chromosomes human pair 1"

المصدر: Kjeldsen, E 2016, ' Characterization of a novel acquired der(1)del(1)(p13p31)t(1;15)(q42;q15) in a high risk t(12;21)-positive acute lymphoblastic leukemia ', Gene, vol. 595, no. 1, pp. 39-48 . https://doi.org/10.1016/j.gene.2016.09.030Test

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2391073e338a7880013e4a002f6cbc09Test
https://doi.org/10.1016/j.gene.2016.09.030Test

6

Association of genomic subtypes of lower-grade gliomas with shape features automatically extracted by a deep learning algorithm

المؤلفون: Mateusz Buda, Maciej A. Mazurowski, Ashirbani Saha

مصطلحات موضوعية: FOS: Computer and information sciences, 0301 basic medicine, Computer Science - Machine Learning, Computer Vision and Pattern Recognition (cs.CV), Radiogenomics, Computer Science - Computer Vision and Pattern Recognition, Health Informatics, Computational biology, Biology, Models, Biological, Machine Learning (cs.LG), 03 medical and health sciences, symbols.namesake, Deep Learning, 0302 clinical medicine, Glioma, FOS: Electrical engineering, electronic engineering, information engineering, Image Processing, Computer-Assisted, medicine, Humans, Brain segmentation, Segmentation, RNA, Neoplasm, Fisher's exact test, Base Sequence, Genome, Human, Image and Video Processing (eess.IV), DNA, Neoplasm, DNA Methylation, Electrical Engineering and Systems Science - Image and Video Processing, medicine.disease, Computer Science Applications, Gene Expression Regulation, Neoplastic, MicroRNAs, 030104 developmental biology, Bonferroni correction, Chromosomes, Human, Pair 1, DNA methylation, Multiple comparisons problem, symbols, Chromosome Deletion, Chromosomes, Human, Pair 19, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3331728c3939738aa1784e48ea684c67Test
http://arxiv.org/abs/1906.03720Test

7

A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family

المؤلفون: Eiberg, Hans, Mikkelsen, Annemette F., Bak, Mads, Tommerup, Niels, Lund, Allan M., Wenzel, Anne, Sabarinathan, Radhakrishnan, Gorodkin, Jan, Bang-Berthelsen, Claus H., Hansen, Lars

المصدر: Eiberg, H, Mikkelsen, A F, Bak, M, Tommerup, N, Lund, A M, Wenzel, A, Sabarinathan, R, Gorodkin, J, Bang-Berthelsen, C H & Hansen, L 2019, ' A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family ', Molecular Vision, vol. 25, pp. 1-11 .
Eiberg, H, Mikkelsen, A F, Bak, M, Tommerup, N, Lund, A M, Wenzel, A, Sabarinathan, R, Gorodkin, J, Bang-Berthelsen, C H & Hansen, L 2019, ' A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family ', Molecular Vision, vol. 25, pp. 1-11 . < http://www.molvis.org/molvis/v25Test/1/ >
Molecular Vision, Vol 25, Iss 1, Pp 1-11 (2019)
Molecular Vision

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::199d75cbfadd9368d0bc1b7c78024634Test
https://orbit.dtu.dk/en/publications/c943813f-2118-4e8c-99e5-4d23a7600e33Test

8

A novel PAX5 rearrangement in TCF3-PBX1 acute lymphoblastic leukemia: a case report

المؤلفون: Caroline Barbieri Blunck, Bruno Almeida Lopes, Mariana Emerenciano, Marcela B. Mansur, Maria S. Pombo-de-Oliveira, Thayana Conceição Barbosa, Adriana Vanessa Santini Deyl

المصدر: BMC Medical Genomics
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-5 (2018)

مصطلحات موضوعية: Male, 0301 basic medicine, lcsh:Internal medicine, TCF3-PBX1, lcsh:QH426-470, Adolescent, DNA Copy Number Variations, Oncogene Proteins, Fusion, Anemia, DNA Mutational Analysis, Case Report, Somatic evolution in cancer, Translocation, Genetic, Malignant transformation, 03 medical and health sciences, Exon, Recurrence, hemic and lymphatic diseases, Genetics, Humans, Medicine, lcsh:RC31-1245, Genetics (clinical), Gene Rearrangement, Base Sequence, der(9)t(9, 17)(p13, q11.2) translocation, business.industry, PAX5-SPECC1, Lymphoblast, PAX5 Transcription Factor, Karyotype, Precursor Cell Lymphoblastic Leukemia-Lymphoma, medicine.disease, lcsh:Genetics, Near-triploidy karyotype, Leukemia, 030104 developmental biology, Chromosomes, Human, Pair 1, Karyotyping, Concomitant, Cancer research, business, Chromosomes, Human, Pair 19

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc4eb62b34a4586a7e237485996f7e14Test
https://doi.org/10.1186/s12920-018-0444-9Test

9

The common origin of symmetry and structure in genetic sequences

المؤلفون: Giampaolo Cristadoro, Eduardo G. Altmann, Mirko Degli Esposti

المساهمون: Cristadoro, Giampaolo, Degli Esposti, Mirko, Altmann, Eduardo G., Cristadoro, G, Degli Esposti, M, Altmann, E

المصدر: Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-9 (2018)

مصطلحات موضوعية: 0301 basic medicine, Computer science, Statistics as Topic, 92D20, Quantitative Biology - Quantitative Methods, Genome, chemistry.chemical_compound, 0302 clinical medicine, Chargaff Parity Rules, Long-range correlations, DNA,transposable elements, Mathematical biology, Extant taxon, Simple (abstract algebra), Complex Genomic Organization, Statistical physics, Multidisciplinary, long correlations, human genoma, Chargaff, Cumulative effect, Quantitative Methods (q-bio.QM), Mathematics, Mathematical and theoretical biology, Multidisciplinary, Quantitative Biology::Genomics, Typical Cluster Size, Chromosomes, Human, Pair 1, Medicine, Chargaff, Algorithms, Transposable element, Science, Structure (category theory), FOS: Physical sciences, Genomics, Symmetry-related Pairs, Article, Minimal model, 03 medical and health sciences, Chargaff's rules, Humans, Simple Domain Model, Base Sequence, Models, Genetic, Chromosome, 030104 developmental biology, chemistry, Evolutionary biology, Physics - Data Analysis, Statistics and Probability, FOS: Biological sciences, Homogeneous space, Human genome, Mobile genetic elements, Parity (mathematics), Data Analysis, Statistics and Probability (physics.data-an), 030217 neurology & neurosurgery, DNA

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4719b59f5dc7ceeeed3711632a77bf4Test
http://europepmc.org/articles/PMC6202410Test

10

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia

المساهمون: Instituto de Investigação e Inovação em Saúde

المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
The American journal of human genetics 101(1), 87-103 (2017). doi:10.1016/j.ajhg.2017.06.007

مصطلحات موضوعية: 0301 basic medicine, Adaptor Proteins Signal Transducing/genetics, Male, genetics [DNA, Intergenic], DNA Mutational Analysis, genetics [Introns], Nerve Tissue Proteins/metabolism, Gene mutation, medicine.disease_cause, Mutagenesis Insertional/genetics, 0302 clinical medicine, genetics [Adaptor Proteins, Signal Transducing], Cerebellum, Chromosome Segregation, RNA Messenger/metabolism, Embryonic Development/genetics, Nerve Tissue Proteins/genetics, genetics [RNA], genetics [Spinocerebellar Ataxias], Age of Onset, Exome, Genetics (clinical), genetics [Nerve Tissue Proteins], Genetics, Mutation, metabolism [Cerebellum], Chromosomes Human Pair 1/genetics, Middle Aged, Physical Chromosome Mapping, Pedigree, genetics [Microsatellite Repeats], Chromosomes, Human, Pair 1, Chromosomal region, Spinocerebellar ataxia, DNA Intergenic/genetics, DNA, Intergenic, Female, Adaptor Proteins Signal Transducing/metabolism, Adult, Adolescent, genetics [Chromosome Segregation], Haplotypes/genetics, genetics [Mutagenesis, Insertional], Microsatellite Repeats/genetics, Embryonic Development, Nerve Tissue Proteins, RNA/genetics, Biology, RNA Messenger/genetics, metabolism [RNA, Messenger], Article, Introns/genetics, 03 medical and health sciences, metabolism [Adaptor Proteins, Signal Transducing], genetics [RNA, Messenger], Young Adult, ddc:570, genetics [Haplotypes], medicine, Chromosome Segregation/genetics, Humans, Spinocerebellar Ataxias, Genetic Predisposition to Disease, RNA, Messenger, Gene, Alleles, Cerebellum/metabolism, Adaptor Proteins, Signal Transducing, Spinocerebellar Ataxias/genetics, metabolism [Nerve Tissue Proteins], DAB1 protein, human, Base Sequence, Intron, genetics [Embryonic Development], medicine.disease, Molecular biology, Introns, Mutagenesis, Insertional, Reelin Protein, 030104 developmental biology, HEK293 Cells, Haplotypes, genetics [Chromosomes, Human, Pair 1], RNA, Trinucleotide repeat expansion, 030217 neurology & neurosurgery, Microsatellite Repeats

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9b3a79cc3c6bc2ea787f44e6f72164aTest
https://pubmed.ncbi.nlm.nih.gov/28686858Test

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