المؤلفون: Khalil Helou, Jenny Nyqvist, Anikó Kovács, Toshima Z. Parris, Per Karlsson, Eva Forssell-Aronsson, Zakaria Einbeigi

المصدر: Cancer Medicine, Vol 10, Iss 13, Pp 4465-4477 (2021)
Cancer Medicine

مصطلحات موضوعية: Adult, 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, DNA Copy Number Variations, Genital Neoplasms, Female, Somatic cell, Genome wide profiling, Breast Neoplasms, double cancer, Tp53 mutation, Neoplasms, Multiple Primary, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, breast cancer, Genetic similarity, Internal medicine, Humans, Medicine, Radiology, Nuclear Medicine and imaging, Melanoma, RC254-282, Original Research, Cancer Biology, business.industry, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Middle Aged, Genes, p53, medicine.disease, 030104 developmental biology, Chromosomes, Human, Pair 1, Hematologic Neoplasms, 030220 oncology & carcinogenesis, Mutation, Etiology, Female, Chromosomes, Human, Pair 3, multiple primary malignancy, Double cancer, business, Chromosomes, Human, Pair 19, Chromosomes, Human, Pair 16, Genome-Wide Association Study, genome‐wide profiling

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5877842cde436e5cea8b60023760e230Test
https://doaj.org/article/5121f7cc3e0a44468a4aa27180db5890Test

المؤلفون: Mari Hachmeriyan, Milena Stoyanova, Mariya Levkova, Lyudmila Angelova, Rada Staneva

المصدر: Folia Medica, Vol 63, Iss 1, Pp 138-141 (2021)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Intellectual development, Autism Spectrum Disorder, Epilepsy, 16p11.2 duplication, Gene Duplication, Intellectual Disability, Gene duplication, Intellectual disability, medicine, Humans, array CGH, Hypertelorism, Comparative Genomic Hybridization, autistic behavior, business.industry, Syndrome, General Medicine, medicine.disease, Pedigree, Phenotype, Molecular Diagnostic Techniques, Schizophrenia, Child, Preschool, Medicine, Female, medicine.symptom, Presentation (obstetrics), business, Chromosomes, Human, Pair 16, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a48da49a315ceeba1249df939221fa3Test
https://foliamedica.bg/article/52763/download/pdfTest/

المؤلفون: Anna M. Rose, Andreas Glenthøj, Chris Fisher, Cornelis L. Harteveld, Douglas R. Higgs, Damien J. Downes, Mohsin Badat, E.J. van Beers, James O.J. Davies

المصدر: Badat, M, Davies, J O J, Fisher, C A, Downes, D J, Rose, A, Glenthøj, A B, van Beers, E J, Harteveld, C L & Higgs, D R 2021, ' A remarkable case of HbH disease illustrates the relative contributions of the α-globin enhancers to gene expression ', Blood, vol. 137, no. 4, pp. 572-575 . https://doi.org/10.1182/blood.2020006680Test

مصطلحات موضوعية: Adult, Male, Erythroblasts, Genotype, Immunology, beta-Globins, Disease, Biology, Biochemistry, α globin, Text mining, alpha-Globins, alpha-Thalassemia, Gene expression, Humans, Erythropoiesis, RNA, Messenger, Enhancer, Alleles, Sequence Deletion, Genetics, Hemoglobin H, Suriname, business.industry, Hemoglobin E, Cell Biology, Hematology, Chromatin, Pedigree, Enhancer Elements, Genetic, Gene Expression Regulation, Female, business, Chromosomes, Human, Pair 16, Gene Deletion

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5f0511bcf631c1a7af5d53c682bd938Test
https://doi.org/10.1182/blood.2020006680Test

المؤلفون: Tingjuan Zhang, Jingdong Zhou, Yangli Zhao, Yangjing Zhao

المصدر: Cancer Biomarkers. 29:387-397

مصطلحات موضوعية: Male, Oncology, Cancer Research, medicine.medical_treatment, Datasets as Topic, Kaplan-Meier Estimate, Hematopoietic stem cell transplantation, Translocation, Genetic, chemistry.chemical_compound, 0302 clinical medicine, Bone Marrow, hemic and lymphatic diseases, Aged, 80 and over, 0303 health sciences, Gene Expression Regulation, Leukemic, Hematopoietic Stem Cell Transplantation, Myeloid leukemia, General Medicine, Middle Aged, Prognosis, RUNX2, Leukemia, Myeloid, Acute, RUNX1, 030220 oncology & carcinogenesis, Core Binding Factor Alpha 2 Subunit, Female, Chromosomes, Human, Pair 8, Adult, medicine.medical_specialty, Adolescent, Disease-Free Survival, Young Adult, 03 medical and health sciences, Internal medicine, Cancer genome, microRNA, Genetics, medicine, Humans, neoplasms, Transcription factor, Aged, 030304 developmental biology, Chemotherapy, business.industry, DNA Methylation, Core Binding Factor Alpha 3 Subunit, chemistry, Case-Control Studies, Mutation, Neoplasm Recurrence, Local, business, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6e85a5f27a3e0598a801609486b5c23Test
https://doi.org/10.3233/cbm-200016Test

المؤلفون: Elliott H. Sherr, Randy L. Buckner, Wendy K. Chung, Lisa Blaskey, Emily S. Kuschner, Pratik Mukherjee, Timothy P.L. Roberts, Jeffrey I. Berman, Srikantan S. Nagarajan, Junko Matsuzaki, Leah Gaetz

المصدر: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging. 5:942-950

مصطلحات موضوعية: Behavioral phenotypes, medicine.medical_specialty, Adolescent, Cognitive Neuroscience, Audiology, 050105 experimental psychology, 03 medical and health sciences, Superior temporal gyrus, 0302 clinical medicine, Intellectual Disability, Vowel, Gene duplication, Intellectual disability, medicine, Humans, Cognitive Dysfunction, 0501 psychology and cognitive sciences, Radiology, Nuclear Medicine and imaging, Latency (engineering), Child, Biological Psychiatry, medicine.diagnostic_test, business.industry, 05 social sciences, Magnetoencephalography, Cognition, medicine.disease, Auditory Perception, Neurology (clinical), Chromosome Deletion, business, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86b11485c9fa8ecd5d4591423207bdf5Test
https://doi.org/10.1016/j.bpsc.2019.11.005Test

المؤلفون: Keith D.K. Luk, Prudence Wing Hang Cheung, Ni Wang, Jason Pui Yin Cheung, Xueyan Yang, Bo Gao, Shuxia Chen, Xin Feng, You-Qiang Song, Vanessa N. T. Choi, Jimmy S. H. Je, Ming Yue

المصدر: Journal of Orthopaedic Research. 39:971-988

مصطلحات موضوعية: Fetal Proteins, Male, DNA Copy Number Variations, TBX6, 0206 medical engineering, Population, 02 engineering and technology, Compound heterozygosity, Bioinformatics, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Missense mutation, Orthopedics and Sports Medicine, education, Congenital scoliosis, Exome sequencing, 030203 arthritis & rheumatology, Mutation, education.field_of_study, business.industry, Genetic Variation, 020601 biomedical engineering, Haplotypes, Scoliosis, Female, Chromosome Deletion, T-Box Domain Proteins, Hemivertebrae, business, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec5889b6da89868caa9ab48397aa739bTest
https://doi.org/10.1002/jor.24805Test

المؤلفون: Lidewij Henneman, Mieke M. van Haelst, Lotte Kleinendorst, Lieke M. van den Heuvel

المساهمون: Human genetics, Amsterdam Reproduction & Development (AR&D), Amsterdam Neuroscience - Complex Trait Genetics, APH - Quality of Care, Human Genetics, Graduate School, Amsterdam Gastroenterology Endocrinology Metabolism, ACS - Heart failure & arrhythmias, APH - Personalized Medicine, ACS - Pulmonary hypertension & thrombosis

المصدر: Kleinendorst, L, van den Heuvel, L M, Henneman, L & van Haelst, M M 2020, ' Who ever heard of 16p11.2 deletion syndrome? Parents' perspectives on a susceptibility copy number variation syndrome ', European Journal of Human Genetics, vol. 28, no. 9, pp. 1196-1204 . https://doi.org/10.1038/s41431-020-0644-6Test
European Journal of Human Genetics
European Journal of Human Genetics, 28(9), 1196-1204. Nature Publishing Group
European journal of human genetics, 28(9), 1196-1204. Nature Publishing Group

مصطلحات موضوعية: Adult, Parents, medicine.medical_specialty, DNA Copy Number Variations, Chromosome Disorders, Genetic Counseling, Article, Intellectual Disability, Genetics research, Adaptation, Psychological, Health care, Intellectual disability, Genetics, Humans, Medicine, Copy-number variation, Autistic Disorder, Child, Psychiatry, Genetics (clinical), Genetic services, business.industry, Middle Aged, medicine.disease, Penetrance, Focus group, Attitude, Autism spectrum disorder, Chromosome Deletion, Thematic analysis, business, Neurocognitive, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ccbe389fed567d43c8ccace60901570Test
https://doi.org/10.1038/s41431-020-0644-6Test

المؤلفون: Bhakti Dwivedi, Adam I. Marcus, Suresh S. Ramalingam, Manali Rupji, Brian Pedro, Paula M. Vertino, Jeanne Kowalski, Jessica Konen, Taofeek K. Owonikoko

المصدر: Cancer

مصطلحات موضوعية: Adult, Male, Cancer Research, Cell, Genomics, Article, Metastasis, 03 medical and health sciences, 0302 clinical medicine, Genotype-phenotype distinction, Carcinoma, Non-Small-Cell Lung, Biomarkers, Tumor, medicine, Humans, Cell Lineage, Neoplasm Invasiveness, 030212 general & internal medicine, Lung cancer, Gene, Aged, Aged, 80 and over, Sequence Analysis, RNA, business.industry, Middle Aged, medicine.disease, Progression-Free Survival, Neoplasm Proteins, Gene Expression Regulation, Neoplastic, medicine.anatomical_structure, Oncology, Multigene Family, 030220 oncology & carcinogenesis, Hepatocellular carcinoma, Mutation, Cancer research, Adenocarcinoma, Female, business, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2348f184c832248f9cc8b90f78ef2fc0Test
https://doi.org/10.1002/cncr.32903Test

المؤلفون: Alicja Ilnicka, Anna Kucińska-Chahwan, Beata Nowakowska, Anna Beneturska, Tomasz Roszkowski, Grzegorz Panek, Sylwia Dąbkowska, Julia Bijok

المصدر: Prenatal Diagnosis. 40:612-617

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Chromosomes, Human, Pair 22, Perinatal Death, Trisomy, Prenatal diagnosis, 030105 genetics & heredity, Ultrasonography, Prenatal, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Chromosome Duplication, Humans, Medicine, Abnormalities, Multiple, Clinical significance, Genetics (clinical), Encephalocele, Retrospective Studies, Genetic testing, Polycystic Kidney Diseases, 030219 obstetrics & reproductive medicine, Cephalocele, medicine.diagnostic_test, business.industry, Obstetrics, Mortality rate, Infant, Newborn, Obstetrics and Gynecology, Abortion, Induced, Retrospective cohort study, medicine.disease, Abortion, Spontaneous, Cytoskeletal Proteins, Chromosomes, Human, Pair 6, Female, Amniotic Band Syndrome, Chromosome Deletion, business, Chromosomes, Human, Pair 16, Retinitis Pigmentosa, Ciliary Motility Disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3c93e93c69f768f027bda5a0fd09bb9Test
https://doi.org/10.1002/pd.5654Test

المؤلفون: Guillermo Garcia-Manero, Endi Wang, Hagop M. Kantarjian, Shimin Hu, Carlos E. Bueso-Ramos, Young L. Kim, Qi Shen, Yi Zhou, Sanam Loghavi, L. Jeffrey Medeiros, Sa Wang, Wei Xie, Aileen Y. Hu, Guiling Tang, Adam Cloe

المصدر: Annals of Hematology. 99:487-500

مصطلحات موضوعية: Adult, Male, Oncology, medicine.medical_specialty, Databases, Factual, Oncogene Proteins, Fusion, Malignancy, Risk Assessment, Translocation, Genetic, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Topoisomerase II Inhibitors, Cytotoxic T cell, Neoplasm, Pathological, Aged, Aged, 80 and over, Hematology, biology, business.industry, Chromosomes, Human, Pair 11, Myeloid leukemia, Neoplasms, Second Primary, Histone-Lysine N-Methyltransferase, General Medicine, Middle Aged, medicine.disease, CREB-Binding Protein, Leukemia, Myeloid, Acute, KMT2A, Dysplasia, Hematologic Neoplasms, Myelodysplastic Syndromes, 030220 oncology & carcinogenesis, biology.protein, Female, business, Chromosomes, Human, Pair 16, Myeloid-Lymphoid Leukemia Protein, 030215 immunology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35323f8db4c2f5ebab8914b85eb23407Test
https://doi.org/10.1007/s00277-020-03909-7Test