-
1
المؤلفون: Hisayuki Matsumoto, Kimikazu Yakushijin, Yu Mizutani, Marika Okuni-Watanabe, Hironobu Minami, Hiroshi Matsuoka, Katsuya Yamamoto, Yoshiharu Miyata, Akihito Kitao, Jun Saegusa, Hideaki Goto, Ako Higashime
المصدر: Cancer Genetics. 254:92-97
مصطلحات موضوعية: Cancer Research, Oncogene Proteins, Fusion, CD33, Bone Marrow Cells, Chromosomal translocation, Translocation, Genetic, Fusion gene, 03 medical and health sciences, Exon, Fatal Outcome, 0302 clinical medicine, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, hemic and lymphatic diseases, Genetics, Humans, Amino Acid Sequence, RNA, Messenger, B-lymphoblastic leukemia, Cell Shape, Molecular Biology, Aged, KMT2A/EPS15, Base Sequence, biology, Chromosomes, Human, Pair 11, Lymphoblast, Myeloid leukemia, Molecular biology, KMT2A, fms-Like Tyrosine Kinase 3, Fusion transcript, Chromosomes, Human, Pair 1, 030220 oncology & carcinogenesis, Mutation, biology.protein, Female, FLT3 mutation
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd11353279c38566baaa6d569082dbb0Test
http://www.lib.kobe-u.ac.jp/handle_kernel/90008353Test -
2
المصدر: Journal of Medical Case Reports, Vol 13, Iss 1, Pp 1-5 (2019)
Journal of Medical Case Reportsمصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, IDH1, Axial skeleton, Oligodendroglioma, Brain tumor, lcsh:Medicine, Case Report, Bone Neoplasms, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Surgical oncology, Biopsy, Medicine, Humans, Sequence Deletion, medicine.diagnostic_test, Base Sequence, business.industry, Brain Neoplasms, Bone metastases, lcsh:R, General Medicine, medicine.disease, Isocitrate Dehydrogenase, nervous system diseases, medicine.anatomical_structure, Chromosomes, Human, Pair 1, 030220 oncology & carcinogenesis, Anaplastic oligodendroglioma, Immunohistochemistry, Bone marrow, business, Metastatic oligodendroglioma
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb64b9a58424b927db0c0a3e2230ec3aTest
http://link.springer.com/article/10.1186/s13256-019-2061-4Test -
3
المؤلفون: Steven, Lehrer, Peter H, Rheinstein
المصدر: In Vivo
مصطلحات موضوعية: DNA, Complementary, Genes, Viral, Pan troglodytes, viruses, Pneumonia, Viral, Viral Nonstructural Proteins, Antiviral Agents, Betacoronavirus, Viral Proteins, Species Specificity, Sequence Homology, Nucleic Acid, Endoribonucleases, Animals, Humans, Pandemics, Polyproteins, Base Sequence, SARS-CoV-2, fungi, COVID-19, Netrin-1, Introns, Chromosomes, Human, Pair 1, Exoribonucleases, Schizophrenia, Haloperidol, RNA, Viral, Coronavirus Infections, Sequence Alignment, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::dd39dde92c999722d8c14d95774d9b42Test
https://pubmed.ncbi.nlm.nih.gov/32503821Test -
4
المؤلفون: Tariq Masoodi, Moeen Al-Sayed, Brian F. Meyer, Mohammad Al-Owain, Nadia Sakati, Hamad Al-Zaidan, Haya Al Saud, Zuhair Rhabeeni, Yousef Binamer, Zayed S. Al-Zayed, Zuhair N. Al-Hassnan, William Wade, Ruqaiah Altassan, Nadia Alhashemi, Salma M. Wakil, Mohamed A. Al-Muhaizea, Ola Khalifa, Haya Al Dosssari
المصدر: American Journal of Medical Genetics Part A. 173:1009-1016
مصطلحات موضوعية: Male, Models, Molecular, 0301 basic medicine, Gene Expression, Severity of Illness Index, Protein Structure, Secondary, Receptor tyrosine kinase, Consanguinity, 0302 clinical medicine, Nerve Growth Factor, Missense mutation, Exome, Hereditary Sensory and Autonomic Neuropathies, Anhidrosis, Child, Genetics (clinical), Exome sequencing, Neurons, Genetics, biology, High-Throughput Nucleotide Sequencing, Phenotype, Chromosomes, Human, Pair 1, Codon, Nonsense, Child, Preschool, Female, medicine.symptom, Protein Binding, Neurotrophin, medicine.medical_specialty, Adolescent, Nonsense mutation, Mutation, Missense, Saudi Arabia, Genes, Recessive, 03 medical and health sciences, Intellectual Disability, Internal medicine, medicine, Humans, Receptor, trkA, Hypohidrosis, Base Sequence, business.industry, 030104 developmental biology, Endocrinology, Nerve growth factor, biology.protein, business, Self-Injurious Behavior, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8873324a7a295fe9ed5569480f74de6Test
https://doi.org/10.1002/ajmg.a.38120Test -
5
المؤلفون: Eigil Kjeldsen
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
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, medicine.medical_treatment, Chromosomal translocation, Biology, Bioinformatics, Translocation, Genetic, 03 medical and health sciences, Chromosome 15, 0302 clinical medicine, Immunophenotyping, Genetics, medicine, Humans, Sequence Deletion, Chromosomes, Human, Pair 15, Chemotherapy, Base Sequence, Chromosome, Karyotype, General Medicine, Precursor Cell Lymphoblastic Leukemia-Lymphoma, medicine.disease, Minimal residual disease, Leukemia, 030104 developmental biology, Chromosomes, Human, Pair 1, 030220 oncology & carcinogenesis, Cancer research
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2391073e338a7880013e4a002f6cbc09Test
https://doi.org/10.1016/j.gene.2016.09.030Test -
6
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
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 Visionمصطلحات موضوعية: Adult, Genetic Markers, Male, lcsh:QH426-470, RNA Splicing, Methylation, Histones, SDG 3 - Good Health and Well-being, Humans, Family, RNA, Messenger, lcsh:QH301-705.5, Genes, Dominant, Binding Sites, Base Sequence, High-Throughput Nucleotide Sequencing, Acetylation, Exons, Middle Aged, Introns, eye diseases, Pedigree, lcsh:Genetics, lcsh:Biology (General), Chromosomes, Human, Pair 1, Genetic Loci, cataract, Eukaryotic Initiation Factor-4A, Mutation, Female, RNA, Long Noncoding, RNA Splice Sites, Research Article
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
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
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
المؤلفون: Ashutosh Dhingra, Joana R. Loureiro, Patrizia Rizzu, Vítor Tedim Cruz, Angela Timóteo, Claudia L. Oliveira, Guy A. Rouleau, Jorge Sequeiros, Andrés Ordóñez-Ugalde, José Bessa, Beatriz Quintáns, María Jesús Sobrido, Cristina Costa, Hugo Marcelino, Ana I. Seixas, Eva Brandão, Angel Carracedo, Paula Coutinho, Peter Heutink, Isabel Silveira, José Leal Loureiro
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.2017.06.007مصطلحات 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