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المؤلفون: Gabriella Sammarelli, Denise Toscani, Valentina Marchica, Nicola Giuliani, Rosa Alba Eufemiese, Luisa Craviotto, Jessica Burroughs Garcìa, Giannalisa Todaro, Paola Storti
المصدر: Cells
Cells, Vol 10, Iss 1360, p 1360 (2021)مصطلحات موضوعية: 0301 basic medicine, Candidate gene, 1q21, QH301-705.5, BCL9, Review, amplification, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Biology (General), ILF2, Multiple myeloma, CKS1B, Mechanism (biology), business.industry, Gene Amplification, General Medicine, Amplicon, medicine.disease, Neoplasm Proteins, 030104 developmental biology, medicine.anatomical_structure, chromosome aberrations, Chromosomes, Human, Pair 1, 030220 oncology & carcinogenesis, Cancer research, IL6R, Bone marrow, MCL-1, business, Multiple Myeloma, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfc18dd5f57fd1da8ca8e6e526a093adTest
https://pubmed.ncbi.nlm.nih.gov/34205916Test -
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المؤلفون: Yingwei Mao, Joy Yoon
المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 5811, p 5811 (2021)مصطلحات موضوعية: 0301 basic medicine, Candidate gene, Microcephaly, Autism Spectrum Disorder, Review, 0302 clinical medicine, Chromosome Duplication, Copy-number variation, Biology (General), Spectroscopy, Genetics, Mental Disorders, copy number variation, neurodegeneration, Neurodegenerative Diseases, General Medicine, Penetrance, Computer Science Applications, Chemistry, Autism spectrum disorder, Schizophrenia, Chromosomes, Human, Pair 1, medicine.symptom, Chromosome Deletion, DNA Copy Number Variations, QH301-705.5, Biology, macrocephaly, Catalysis, Inorganic Chemistry, 03 medical and health sciences, mental disorders, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Physical and Theoretical Chemistry, QD1-999, Molecular Biology, Genetic association, synaptic plasticity, microduplication, Organic Chemistry, Macrocephaly, medicine.disease, Megalencephaly, schizophrenia, 030104 developmental biology, Neurodevelopmental Disorders, microdeletion, 030217 neurology & neurosurgery, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc23b7fe63b728e36af8367eef1a89fcTest
http://europepmc.org/articles/PMC8197994Test -
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المؤلفون: Jie, Xu, Fang-Ping, Xu, Zhi-Hua, Liu, Qian, Cui, Ke-Ping, Zhang, Zhi, Li
المصدر: Medicine. 101:e29668
مصطلحات موضوعية: Brain Neoplasms, Chromosomes, Human, Pair 1, Mutation, Humans, Glioma, Kaplan-Meier Estimate, General Medicine, Chromosomes, Human, Pair 19, Telomerase, In Situ Hybridization, Fluorescence, Isocitrate Dehydrogenase
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::627f5b7bd84b558f93cdf385d4392cb4Test
https://doi.org/10.1097/md.0000000000029668Test -
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المؤلفون: Esra Yıldız Bölükbaşı, Justyna A. Karolak, Tomasz Gambin, Przemyslaw Szafranski, Gail H. Deutsch, Paweł Stankiewicz
المصدر: Eur J Med Genet
مصطلحات موضوعية: Male, Pulmonary Alveoli, Fathers, Chromosomes, Human, Pair 1, Infant, Newborn, Genetics, Humans, Forkhead Transcription Factors, General Medicine, Persistent Fetal Circulation Syndrome, Article, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a285c2be3565e3ec21079db580673b1Test
https://doi.org/10.1016/j.ejmg.2022.104519Test -
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المؤلفون: Roger Stupp, Kathleen McCortney, Craig Horbinski
المصدر: Neuro Oncol
مصطلحات موضوعية: Cancer Research, business.industry, Brain Neoplasms, Tumor Suppressor Proteins, Mutant, Infant, Glioma, Methylation, Isocitrate Dehydrogenase, Text mining, DNA Repair Enzymes, Oncology, Patient age, Chromosomes, Human, Pair 1, Promoter methylation, Mutation, Cancer research, Medicine, Humans, Neurology (clinical), business, Letters to the Editor, Promoter Regions, Genetic, Chromosomes, Human, Pair 19, DNA Modification Methylases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b03786e9861c6ad8c27d0d78c305324bTest
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المؤلفون: Christoph Kimmich, Tobias Dittrich, Stefanie Huhn, Axel Benner, Hartmut Goldschmidt, Kaya Veelken, Stefan Schönland, Ute Hegenbart, Timon Hansen, Alexander Carpinteiro, Tobias Terzer, Carsten Müller-Tidow, Marco Basset, Anna Jauch
المصدر: American journal of hematologyREFERENCES. 96(7)
مصطلحات موضوعية: Oncology, Male, medicine.medical_specialty, Medizin, Immunoglobulin light chain, Dexamethasone, Internal medicine, Antineoplastic Combined Chemotherapy Protocols, Chromosome Duplication, medicine, Humans, Immunoglobulin Light-chain Amyloidosis, Adverse effect, Lenalidomide, Aged, Retrospective Studies, Aged, 80 and over, business.industry, Amyloidosis, Daratumumab, Antibodies, Monoclonal, Hematology, Middle Aged, medicine.disease, Treatment Outcome, Chromosomes, Human, Pair 1, Toxicity, Female, business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4894a89e63e0b2bd9aaf4a57f5bbd1aTest
https://pubmed.ncbi.nlm.nih.gov/33844864Test -
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المؤلفون: Marie-Laure Risse, Adrian Alegre, David Simpson, Kazutaka Sunami, Marlène Inchauspé, Sosana Delimpasi, Simon J. Harrison, Ming Chung Wang, Aurore Perrot, Cyrille Hulin, Frank Campana, Andrew Spencer, Helgi van de Velde, Thierry Facon, Philip Vlummens, P. W. Richardson, Sandrine Macé, Kwee Yong
المصدر: British Journal of Haematology
BRITISH JOURNAL OF HAEMATOLOGYمصطلحات موضوعية: Male, Abnormal Karyotype, high‐, Trisomy, Kaplan-Meier Estimate, gain (1q21), Gastroenterology, Dexamethasone, cytogenetics, INTERNATIONAL STAGING SYSTEM, MOLECULAR, 0302 clinical medicine, Antineoplastic Agents, Immunological, Recurrence, Medicine and Health Sciences, Multiple myeloma, risk, Randomized Controlled Trials as Topic, Aged, 80 and over, LENALIDOMIDE, INTERGROUPE FRANCOPHONE, refractory multiple myeloma, ABNORMALITIES, Bortezomib, POMALIDOMIDE, high‐risk, Hematology, Middle Aged, Thalidomide, Myeloma Proteins, Chromosomes, Human, Pair 1, 030220 oncology & carcinogenesis, Female, Multiple Myeloma, medicine.drug, Research Paper, isatuximab, EXPRESSION, Adult, Risk, medicine.medical_specialty, LOW-DOSE DEXAMETHASONE, BORTEZOMIB, Subgroup analysis, Antibodies, Monoclonal, Humanized, CLASSIFICATION, 03 medical and health sciences, Refractory, Internal medicine, relapsed/refractory multiple myeloma, medicine, Humans, Immunologic Factors, Adverse effect, Lenalidomide, Aged, Febrile Neutropenia, Salvage Therapy, business.industry, SAR650984, Pneumonia, Haematological malignancy ‐ Clinical, Pomalidomide, medicine.disease, Discontinuation, relapsed, Clinical Trials, Phase III as Topic, business, 030215 immunology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7447e9ce6e42456f3cefd04fa557acd5Test
https://pubmed.ncbi.nlm.nih.gov/34036560Test -
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المؤلفون: Gilles Morin, Krista Bluske, Nathaniel H. Robin, Laurence Faivre, Manuela Priolo, Dihong Zhou, Evangeline Kurtz-Nelson, Tianyun Wang, Omar Sherbini, Daryl A. Scott, Karen Stals, Fabíola Paoli Monteiro, Kaifang Pang, Sara Cabet, Francesca Clementina Radio, Bruno Dallapiccola, Marjon van Slegtenhorst, Rachel K. Earl, Katheryn Grand, Maria Iascone, Alice S. Brooks, Angelo Selicorni, July K. Jean Cuevas, Paolo Gasparini, Maria Lisa Dentici, Marialetizia Motta, Britt-Marie Anderlid, Kristin Lindstrom, Berrin Monteleone, Andrea Ciolfi, Karin Weiss, Katharina Steindl, Kirsty McWalter, Rosalba Carrozzo, Ruben Boers, Helen Kingston, Kym M. Boycott, Bekim Sadikovic, Laura Schultz-Rogers, Evan E. Eichler, Laura A Cross, Alison M R Castle, Louisa Kalsner, Lucia Pedace, Marijke R. Wevers, John M. Graham, Jessica Sebastian, Antonio Vitobello, Gaetan Lesca, Alexander P.A. Stegmann, Suneeta Madan-Khetarpal, Tahsin Stefan Barakat, Abdallah F. Elias, Teresa Robert Finestra, Adeline Vanderver, Peter D. Turnpenny, Bregje W.M. van Bon, Aida Telegrafi, David J. Amor, Deepali N. Shinde, Pedro A. Sanchez-Lara, Lisenka E.L.M. Vissers, Adam Jackson, Rolph Pfundt, Alessandro Bruselles, Andres Hernandez-Garcia, Karin E. M. Diderich, Flavio Faletra, Dana H. Goodloe, Joanne Baez, Sarit Ravid, Romano Tenconi, Sarah L. Sawyer, Lynn Pais, Bronwyn Kerr, Joost Gribnau, Lauren Carter, Melissa T. Carter, Zhandong Liu, Jennifer L. Kemppainen, Jennifer MacKenzie, Jimmy Holder, Elke de Boer, Margaret Au, Taila Hartley, Carol J Saunders, Luciana Musante, Bert B.A. de Vries, Tania Vertemati Secches, Haley McConkey, Willow Sheehan, Francesca Pantaleoni, Caterina Zanus, Christophe Philippe, Chelsea Roadhouse, Stefania Lo Cicero, Sian Ellard, R. Tanner Hagelstrom, Megha Desai, Fernando Kok, Joset Pascal, Marco Tartaglia, Eric W. Klee, Eva Morava, Michael A. Levy, Peggy Kulch, Lyndon Gallacher, Erica L. Macke, Emilia Stellacci, Siddharth Banka, Kristin G. Monaghan, Anita Rauch, Meghan C. Towne, Kate Chandler
المساهمون: Clinical Genetics, Developmental Biology, Radio, F. C., Pang, K., Ciolfi, A., Levy, M. A., Hernandez-Garcia, A., Pedace, L., Pantaleoni, F., Liu, Z., de Boer, E., Jackson, A., Bruselles, A., Mcconkey, H., Stellacci, E., Lo Cicero, S., Motta, M., Carrozzo, R., Dentici, M. L., Mcwalter, K., Desai, M., Monaghan, K. G., Telegrafi, A., Philippe, C., Vitobello, A., Au, M., Grand, K., Sanchez-Lara, P. A., Baez, J., Lindstrom, K., Kulch, P., Sebastian, J., Madan-Khetarpal, S., Roadhouse, C., Mackenzie, J. J., Monteleone, B., Saunders, C. J., Jean Cuevas, J. K., Cross, L., Zhou, D., Hartley, T., Sawyer, S. L., Monteiro, F. P., Secches, T. V., Kok, F., Schultz-Rogers, L. E., Macke, E. L., Morava, E., Klee, E. W., Kemppainen, J., Iascone, M., Selicorni, A., Tenconi, R., Amor, D. J., Pais, L., Gallacher, L., Turnpenny, P. D., Stals, K., Ellard, S., Cabet, S., Lesca, G., Pascal, J., Steindl, K., Ravid, S., Weiss, K., Castle, A. M. R., Carter, M. T., Kalsner, L., de Vries, B. B. A., van Bon, B. W., Wevers, M. R., Pfundt, R., Stegmann, A. P. A., Kerr, B., Kingston, H. M., Chandler, K. E., Sheehan, W., Elias, A. F., Shinde, D. N., Towne, M. C., Robin, N. H., Goodloe, D., Vanderver, A., Sherbini, O., Bluske, K., Hagelstrom, R. T., Zanus, C., Faletra, F., Musante, L., Kurtz-Nelson, E. C., Earl, R. K., Anderlid, B. -M., Morin, G., van Slegtenhorst, M., Diderich, K. E. M., Brooks, A. S., Gribnau, J., Boers, R. G., Finestra, T. R., Carter, L. B., Rauch, A., Gasparini, P., Boycott, K. M., Barakat, T. S., Graham, J. M., Faivre, L., Banka, S., Wang, T., Eichler, E. E., Priolo, M., Dallapiccola, B., Vissers, L. E. L. M., Sadikovic, B., Scott, D. A., Holder, J. L., Tartaglia, M., MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output
المصدر: American Journal of Human Genetics, 108(3), 502-516. Cell Press
American Journal of Human Genetics, 108, 3, pp. 502-516
Am J Hum Genet
American Journal of Human Genetics, 108, 502-516مصطلحات موضوعية: 0301 basic medicine, SHARP, Male, obesity, genotype-phenotype correlations, Autism Spectrum Disorder, PROTEIN, Chromosome Disorders, Haploinsufficiency, RNA-Binding Protein, PHENOTYPE CORRELATIONS, 1p36, distal 1p36 deletion syndrome, DNA methylome analysis, episignature, neurodevelopmental disorder, proximal 1p36 deletion syndrome, SPEN, X chromosome, Adolescent, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 1, Chromosomes, Human, X, DNA Methylation, DNA-Binding Proteins, Epigenesis, Genetic, Female, Humans, Intellectual Disability, Neurodevelopmental Disorders, Phenotype, RNA-Binding Proteins, Young Adult, 0302 clinical medicine, Neurodevelopmental disorder, Neurodevelopmental Disorder, Intellectual disability, MOLECULAR CHARACTERIZATION, Genetics (clinical), Genetics, DNA methylome analysi, SPLIT-ENDS, Hypotonia, Autism spectrum disorder, MONOSOMY 1P36, Pair 1, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Human, DNA-Binding Protein, Biology, genotype-phenotype correlation, Chromosomes, 03 medical and health sciences, Genetic, SDG 3 - Good Health and Well-being, Report, REVEALS, medicine, Epigenetics, Preschool, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], 1p36 deletion syndrome, IDENTIFICATION, MUTATIONS, medicine.disease, GENE, 030104 developmental biology, Chromosome Disorder, 030217 neurology & neurosurgery, Epigenesis
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ca1a210d6320f77ca12d03a0549f6d7Test
https://pure.eur.nl/en/publications/6c5a2968-0de0-4074-8849-a2d72291e184Test -
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المؤلفون: Roberta Battini, Roberta Milone, Roberta Scalise, Ivana Ricca, Stefano Berloffa, Rosa Pasquariello
المصدر: Genes
Genes, Vol 12, Iss 511, p 511 (2021)مصطلحات موضوعية: 0301 basic medicine, ASH1L, Adolescent, lcsh:QH426-470, Movement disorder, RIT1, Spastic paraparesis, SYT11, UBQLN4, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 3, Comparative Genomic Hybridization, Female, High-Throughput Nucleotide Sequencing, Humans, Intellectual Disability, Phenotype, Chromosome Duplication, Case Report, Bioinformatics, Chromosomes, 03 medical and health sciences, 0302 clinical medicine, Gene duplication, Intellectual disability, Genetics, medicine, Bipolar disorder, Genetics (clinical), business.industry, spastic paraparesis, Negativity effect, medicine.disease, lcsh:Genetics, 030104 developmental biology, Pair 3, Pair 1, movement disorder, business, Genetic diagnosis, 030217 neurology & neurosurgery, Human
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26d892e2633eaec1f65b2e72a2567f90Test
http://europepmc.org/articles/PMC8066010Test -
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المؤلفون: Gareth, Chapman, Mouhamed, Alsaqati, Sharna, Lunn, Tanya, Singh, Stefanie C, Linden, David E J, Linden, Marianne B M, van den Bree, Mike, Ziller, Michael J, Owen, Jeremy, Hall, Adrian J, Harwood, Yasir Ahmed, Syed
المصدر: Molecular psychiatry. 27(2)
مصطلحات موضوعية: Neurons, Mice, Phenotype, DNA Copy Number Variations, Chromosomes, Human, Pair 1, Induced Pluripotent Stem Cells, Animals, Humans, Abnormalities, Multiple, Chromosome Deletion, Megalencephaly
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::032674ab516259d1ca1fdd10a6c7d023Test
https://pubmed.ncbi.nlm.nih.gov/34112971Test