المؤلفون: Tung Thanh Nguyen, Anh Thai Hoang Truong, Vu Anh Hoang, Duong Van Huynh, Tuan Van Nguyen, Chanh Trung Le, Dung Thi Phuong Dang, Minh Huu Nhat Le

المصدر: Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-14 (2024)

مصطلحات موضوعية: OFCD syndrome, Dental anomalies, BCOR gene, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1752-1947

URL الوصول: https://doaj.org/article/b7d961a1bf7b4ea0b45ca1dfc11d4c3b

المؤلفون: Lozić, B., Ljubković, J., Pandurić, D. Gabrić, Saltvig, I., Kutsche, K., Krželj, V., Zemunik, T.

المصدر: Brazilian Journal of Medical and Biological Research. December 2012 45(12)

مصطلحات موضوعية: OFCD syndrome, BCOR gene, Talon cusp, Intrafamilial phenotypic variability

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012001200030

المؤلفون: B. Lozić, J. Ljubković, D. Gabrić Pandurić, I. Saltvig, K. Kutsche, V. Krželj, T. Zemunik

المصدر: Brazilian Journal of Medical and Biological Research, Vol 45, Iss 12, Pp 1315-1319 (2012)

مصطلحات موضوعية: OFCD syndrome, BCOR gene, Talon cusp, Intrafamilial phenotypic variability, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012001200030; https://doaj.org/toc/0100-879X; https://doaj.org/toc/1414-431X

URL الوصول: https://doaj.org/article/b6fc929cb94b405d805b509bd14afee9

المؤلفون: Ng, I.K.S, Lee, J, Ng, C, Kosmo, B, Chiu, L, Seah, E, Mok, M.M.H, Tan, K, Osato, M, Chng, W.-J, Yan, B, Tan, L.K

المساهمون: CANCER SCIENCE INSTITUTE OF SINGAPORE, MEDICINE, PATHOLOGY

المصدر: Unpaywall 20200831

مصطلحات موضوعية: anthracycline, cyclin dependent kinase inhibitor 2A, cytarabine, DNA methyltransferase 3A, hemoglobin, methotrexate, mycophenolate mofetil, tacrolimus, transcription factor GATA 2, transcription factor RUNX1, acute myeloid leukemia, adult, Article, bcor gene, bcorl1 gene, bone marrow biopsy, case report, clinical article, consolidation chemotherapy, female, flow cytometry, gene, gene deletion, gene frequency, gene insertion, gene mutation, genetic variability, haploidentical transplantation, human, leukocyte count

Relation: Ng, I.K.S, Lee, J, Ng, C, Kosmo, B, Chiu, L, Seah, E, Mok, M.M.H, Tan, K, Osato, M, Chng, W.-J, Yan, B, Tan, L.K (2018). Preleukemic and second-hit mutational events in an acute myeloid leukemia patient with a novel germline RUNX1 mutation. Biomarker Research 6 (1) : 16. ScholarBank@NUS Repository. https://doi.org/10.1186/s40364-018-0130-2; https://scholarbank.nus.edu.sg/handle/10635/175057

الاتاحة: https://scholarbank.nus.edu.sg/handle/10635/175057

المؤلفون: Yimin Wu, Jinfan Li, Lan Yue, Mingjing Yuan, Ying Chai

المصدر: Medicine

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Lung Neoplasms, typical pulmonary carcinoid, Carcinoid Tumor, Gene mutation, Malignancy, 03 medical and health sciences, Cushing syndrome, 0302 clinical medicine, Proto-Oncogene Proteins, Medicine, Humans, case report, Clinical Case Report, Gene, Cushing Syndrome, S syndrome, Lung, BCOR gene mutation, Pulmonary neuroendocrine tumor, business.industry, ectopic ACTH syndrome, General Medicine, medicine.disease, Repressor Proteins, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), Mutation, Radiology, business, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a65410f78092d2eb9953663aa0e27210
https://pubmed.ncbi.nlm.nih.gov/28834902

المؤلفون: Bernarda Lozić, Vjekoslav Krželj, Tatijana Zemunik, I. Saltvig, J. Ljubković, K. Kutsche, D. Gabrić Pandurić

المصدر: Brazilian Journal of Medical and Biological Research v.45 n.12 2012
Brazilian Journal of Medical and Biological Research
Associação Brasileira de Divulgação Científica (ABDC)
instacron:ABDC
Brazilian Journal of Medical and Biological Research, Vol 45, Iss 12, Pp 1315-1319 (2012)
Brazilian Journal of Medical and Biological Research, Volume: 45, Issue: 12, Pages: 1315-1319, Published: DEC 2012

مصطلحات موضوعية: Adult, Heart Defects, Congenital, Pediatrics, medicine.medical_specialty, Pathology, Genotype, Physiology, OFCD syndrome, BCOR gene, Talon cusp, Intrafamilial phenotypic variability, Immunology, Biophysics, Severe disease, Case Report, Biochemistry, OFCD SYNDROME, medicine, Humans, Abnormalities, Multiple, Eye Abnormalities, General Pharmacology, Toxicology and Pharmaceutics, lcsh:QH301-705.5, lcsh:R5-920, Tooth Abnormalities, business.industry, General Neuroscience, Infant, Newborn, Syndrome, Cell Biology, General Medicine, Middle Aged, Oculo facio cardio dental, medicine.disease, Phenotype, lcsh:Biology (General), Codon, Nonsense, Female, lcsh:Medicine (General), business, Novel mutation

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8b7cda9631ed7175fc6f5a333813843
https://doi.org/10.1590/s0100-879x2012007500150

المؤلفون: Kelly M.J., Rogers A.J., Gregory G., Li J., Zethoven M., Gearhart M.D., Bardwell V.J., Johnstone R.W., Vervoort S.J., Kats L.M., So J.

مصطلحات الفهرس: gene deletion, gene expression, gene frequency, gene mutation, gene ontology, genotyping technique, hematologic malignancy, hematopoietic stem cell transplantation, immunophenotyping, immunoprecipitation, leukemogenesis, LoxP site, mouse, myelodysplastic syndrome, nonhuman, open reading frame, perceptive threshold, receptor down regulation, sequence analysis, transcription initiation, ubiquitination, BMI1 protein/ec [Endogenous Compound], CD11b antigen/ec [Endogenous Compound], protein bcl 6/ec [Endogenous Compound], tamoxifen, transcription factor/ec [Endogenous Compound], transcription factor HoxA10/ec [Endogenous Compound], bcor gene, genetic transduction, acute myeloid leukemia, animal cell, animal experiment, animal model, animal tissue, article, blood, bone marrow progenitor cell, cell cloning, cell differentiation, cell proliferation assay, centrifugation, chromatin assembly and disassembly, chromatin immunoprecipitation, chromophore assisted light inactivation, controlled study, CRISPR Cas system, DNA extraction, downstream processing, epigenetic repression, flow cytometry, frameshift mutation, gene, Article

URL: https://repository.monashhealth.org/monashhealthjspui/handle/1/35719
Nature Communications
LibKey Link