المؤلفون: Catarino, Telmo A., Pacheco-Leyva, Ivette, Kindi, Faiza Al, Ghezzo, Marinella N., Fernandes, Mónica T., Costa, Telma, Rodrigues Dos Santos, Nuno

مصطلحات موضوعية: Pt-alpha, Notch1 mutations, Tumor-suppressor, Expression, Tcr, Locus

العلاقة: info:eu-repo/grantAgreement/FCT/OE/SFRH%2FBD%2F80503%2F2011/PT; info:eu-repo/grantAgreement/FCT/OE/SFRH%2FBD%2F75137%2F2010/PT; info:eu-repo/grantAgreement/FCT/Concurso para Financiamento de Projetos de Investigação Científica e Desenvolvimento Tecnológico em Todos os Domínios Científicos - 2017/PTDC%2FMED-ONC%2F32592%2F2017/PT; http://hdl.handle.net/10400.1/20189Test

الإتاحة: https://doi.org/10.1016/j.exphem.2022.10.001Test
http://hdl.handle.net/10400.1/20189Test

المؤلفون: Zhongqi Li, Fang Yu, Wenle Ye, Liping Mao, Jiansong Huang, Yang Shao, Junrong Yan, Wenjuan Yu, Jie Jin, Jinghan Wang

المصدر: Frontiers in Oncology, Vol 11 (2021)

مصطلحات موضوعية: next generation sequencing (NGS), diffuse large B-cell lymphoma, clinical decision making, NOTCH1 mutations, clinical outcome, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fonc.2021.746577/fullTest; https://doaj.org/toc/2234-943XTest

الوصول الحر: https://doaj.org/article/edf48bd3f6e44502b9f91d0c67585336Test

المؤلفون: Helle, Emmi, Pihkala, Jaana, Turunen, Riitta, Ruotsalainen, Hanna, Tuupanen, Sari, Koskenvuo, Juha, Ojala, Tiina

المساهمون: STEMM - Stem Cells and Metabolism Research Program, HUS Children and Adolescents, Kivelä Lab, Research Programs Unit, Children's Hospital, Helsinki University Hospital Area, University of Helsinki, Lastentautien yksikkö, Faculty of Medicine, Clinicum

مصطلحات موضوعية: 3123 Gynaecology and paediatrics, hypoplastic left heart syndrome, congenital heart defects, genetics, precision medicine, heart failure, right ventricle dysfunction, right heart failure, myocardial dysfunction, LEFT-VENTRICULAR NONCOMPACTION, NOTCH1 MUTATIONS, DE-NOVO, DEFECTS, DISEASE, IDENTIFICATION, PREVALENCE, FAILURE

وصف الملف: application/pdf

العلاقة: Helle , E , Pihkala , J , Turunen , R , Ruotsalainen , H , Tuupanen , S , Koskenvuo , J & Ojala , T 2020 , ' Rare Variants in Genes Associated With Cardiomyopathy Are Not Common in Hypoplastic Left Heart Syndrome Patients With Myocardial Dysfunction ' , Frontiers in pediatrics , vol. 8 , 596840 . https://doi.org/10.3389/fped.2020.596840Test; ORCID: /0000-0001-9092-7763/work/84704658; bd04ee4d-0fb6-4c99-bdfe-3b860316e129; http://hdl.handle.net/10138/322109Test; 000588689600001

الإتاحة: http://hdl.handle.net/10138/322109Test

المؤلفون: Yixin Zou, Lei Fan, Yi Xia, Yi Miao, Wei Wu, Lei Cao, Jiazhu Wu, Huayuan Zhu, Chun Qiao, Li Wang, Wei Xu, Jianyong Li

المصدر: Cancer Medicine, Vol 7, Iss 5, Pp 1689-1696 (2018)

مصطلحات موضوعية: Chronic lymphocytic leukemia, cytogenetics, molecular biology, NOTCH1 mutations, prognosis, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2045-7634Test

الوصول الحر: https://doaj.org/article/4486cb12b3dd4c449fd07797544fe14cTest

المؤلفون: Francesca Arruga, Branimir Gizdic, BOLOGNA, CINZIA, CIGNETTO, SIMONA, BUONINCONTRI, ROBERTA, SERRA, SARA, VAISITTI, TIZIANA, Katiuscia Gizzi, VITALE, NICOLETTA, GARAFFO, GIULIA, MEREU, ELISABETTA, Fary Diop, Francesco Neri, COSCIA, Marta, John Allan, PIVA, Roberto, OLIVIERO, Salvatore, Richard Furman, Davide Rossi, Gianluca Gaidano, DEAGLIO, Silvia

المساهمون: Francesca, Arruga, Branimir, Gizdic, Bologna, Cinzia, Cignetto, Simona, Buonincontri, Roberta, Serra, Sara, Vaisitti, Tiziana, Katiuscia, Gizzi, Vitale, Nicoletta, Garaffo, Giulia, Mereu, Elisabetta, Fary, Diop, Francesco, Neri, Coscia, Marta, John, Allan, Piva, Roberto, Oliviero, Salvatore, Richard, Furman, Davide, Rossi, Gianluca, Gaidano, Deaglio, Silvia

مصطلحات موضوعية: leukemia, NOTCH1 mutations, epigenetic regulation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28017968; info:eu-repo/semantics/altIdentifier/wos/WOS:000409232000006; volume:31; issue:9; firstpage:1882; lastpage:1893; numberofpages:12; journal:LEUKEMIA; http://hdl.handle.net/2318/1621657Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85011003344

الإتاحة: https://doi.org/10.1038/leu.2016.383Test
http://hdl.handle.net/2318/1621657Test

المؤلفون: Salaverria, I., Martin-Garcia, D., Lopez, C., Clot, G., Garcia-Aragones, M., Navarro, A., Delgado, J., Baumann, T., Pinyol, M., Martin-Guerrero, I., Carrio, A., Costa, D., Queiros, A. C., Jayne, Sandrine, Aymerich, M., Villamor, N., Colomer, D., Gonzalez, M., Lopez-Guillermo, A., Campo, E., Dyer, Martin J. S., Siebert, R., Armengol, L., Bea, S. L.

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Oncology, Genetics & Heredity, COMPARATIVE GENOMIC HYBRIDIZATION, IGHV MUTATIONAL STATUS, MANTLE CELL LYMPHOMA, NOTCH1 MUTATIONS, CHROMOSOMAL TRANSLOCATIONS, CLINICAL-SIGNIFICANCE, DISEASE PROGRESSION, MICROARRAY ANALYSIS, TP53 MUTATIONS, WIDE ANALYSIS

العلاقة: Genes, Chromosomes And Cancer, 2015, 54 (11), pp. 668-680 (13); http://hdl.handle.net/2381/36755Test

الإتاحة: https://doi.org/10.1002/gcc.22277Test
http://hdl.handle.net/2381/36755Test

المؤلفون: Sebastian Grosicki, Fritz Offner, Ira Gupta, Ann Janssens, Panagiotis Panagiotidis, Hartmut Döhner, Daniel Mertens, Alexandra Skorupa, Billy J. Jebaraj, Celine Pallaud, Eugen Tausch, Lars Bullinger, Jiri Mayer, Richard F. Schlenk, Deyan Y. Yosifov, Anna Dolnik, Astrid McKeown, Stephan Stilgenbauer, Peter Hillmen, Philipp Beck, K Govind Babu

المصدر: Haematologica
HAEMATOLOGICA

مصطلحات موضوعية: Oncology, Cancer Research, medicine.medical_specialty, Chronic lymphocytic leukemia, NOTCH1 MUTATIONS, Gene mutation, Ofatumumab, Article, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, hemic and lymphatic diseases, SF3B1 MUTATIONS, Internal medicine, Multicenter trial, Medicine and Health Sciences, medicine, Humans, TP53, Prospective Studies, Receptor, Notch1, CLINICAL IMPACT, Prospective cohort study, BIRC3, Univariate analysis, Science & Technology, Chlorambucil, business.industry, Editorials, Hematology, OPEN-LABEL, Phosphoproteins, Prognosis, medicine.disease, Leukemia, Lymphocytic, Chronic, B-Cell, Fludarabine, RECURRENT MUTATIONS, chemistry, 030220 oncology & carcinogenesis, Mutation, SURVIVAL, RNA Splicing Factors, FLUDARABINE, business, Life Sciences & Biomedicine, CLL, 030215 immunology, medicine.drug

وصف الملف: application/pdf; Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dafcc78b6b6cdc7eabcd184a2827bedTest
https://doi.org/10.3324/haematol.2019.229161Test

المؤلفون: Broberg, Martin, Hästbacka, Johanna, Helle, Emmi

المساهمون: Institute for Molecular Medicine Finland, STEMM - Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki Institute of Life Science HiLIFE, HUS Children and Adolescents, Children's Hospital, Clinicum, Kivelä Lab

مصطلحات موضوعية: IMPACT, massively parallel sequencing, NOTCH1 MUTATIONS, 1184 Genetics, developmental biology, physiology, EXOME, PATIENT, RISK LOCI, congenital heart disease, DISEASE, human induced pluripotent stem cells, DE-NOVO MUTATIONS, genome-wide association studies, genetics, 3111 Biomedicine, GENOME-WIDE ASSOCIATION, COPY-NUMBER VARIANTS, METAANALYSIS

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______1593::6b42e73f26708b9d3884c0fa7d090b47Test
http://hdl.handle.net/10138/333587Test

المؤلفون: Baars, Hubert, Overwater, Eline, Baars, Marieke, Mulder, Barbara, Kerstjens-Frederikse, Wilhelmina, van Engelen, Klaartje, Houweling, Arjan

المصدر: Baars , H , Overwater , E , Baars , M , Mulder , B , Kerstjens-Frederikse , W , van Engelen , K & Houweling , A 2015 , ' Clinical and genetic aspects of bicuspid aortic valve : a proposed model for family screening based on a review of literature ' , Cardiogenetics , vol. 5 , no. 1 , 4842 , pp. 1-8 . https://doi.org/10.4081/cardiogenetics.2015.4842Test

مصطلحات موضوعية: bicuspid aortic valve, thoracic aortic aneurysm, genetics, family screening, MARFAN-SYNDROME, RISK-FACTORS, MAGNETIC-RESONANCE, NOTCH1 MUTATIONS, NATURAL-HISTORY, ROOT DIMENSIONS, ASCENDING AORTA, DISEASE, DILATATION, ANEURYSMS

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/b56a3f71-9c63-46ba-a90f-615a17430c1fTest

الإتاحة: https://doi.org/10.4081/cardiogenetics.2015.4842Test
https://hdl.handle.net/11370/b56a3f71-9c63-46ba-a90f-615a17430c1fTest
https://research.rug.nl/en/publications/b56a3f71-9c63-46ba-a90f-615a17430c1fTest
https://pure.rug.nl/ws/files/67720864/document.pdfTest

المؤلفون: I. Salaverria, D. Martin-Garcia, C. Lopez, G. Clot, M. Garcia-Aragones, A. Navarro, J. Delgado, T. Baumann, M. Pinyol, I. Martin-Guerrero, A. Carrio, D. Costa, A. C. Queiros, Sandrine Jayne, M. Aymerich, N. Villamor, D. Colomer, M. Gonzalez, A. Lopez-Guillermo, E. Campo, Martin J. S. Dyer, R. Siebert, L. Armengol, S. L. Bea

مصطلحات موضوعية: Uncategorized, Science & Technology, Life Sciences & Biomedicine, Oncology, Genetics & Heredity, COMPARATIVE GENOMIC HYBRIDIZATION, IGHV MUTATIONAL STATUS, MANTLE CELL LYMPHOMA, NOTCH1 MUTATIONS, CHROMOSOMAL TRANSLOCATIONS, CLINICAL-SIGNIFICANCE, DISEASE PROGRESSION, MICROARRAY ANALYSIS, TP53 MUTATIONS, WIDE ANALYSIS

العلاقة: 2381/36755; https://figshare.com/articles/journal_contribution/Detection_of_chromothripsis-like_patterns_with_a_custom_array_platform_for_chronic_lymphocytic_leukemia/10148570Test

الإتاحة: https://figshare.com/articles/journal_contribution/Detection_of_chromothripsis-like_patterns_with_a_custom_array_platform_for_chronic_lymphocytic_leukemia/10148570Test