المساهمون: Hyunjin Kim, Nara Yoon, Ha Young Woo, Eui-Jin Lee, Sung-Im DO, Kiyong Na, Hyun-Soo Kim, Woo, Ha Young

مصطلحات موضوعية: Adenocarcinoma / genetics, Adenocarcinoma / pathology, Biomarkers, Tumor / genetics, Chromosomes, Human, Pair 1 / genetics, Female, Gain of Function Mutation, Humans, Hyperplasia / genetics, Hyperplasia / pathology, Mesonephroma / genetics, Mesonephroma / pathology, Middle Aged, Mutation, Precancerous Conditions / genetics, Precancerous Conditions / pathology, Prognosis, Proto-Oncogene Proteins p21(ras) / genetics, Uterine Cervical Neoplasms / genetics, Uterine Cervical Neoplasms / pathology, Uterus, cervix, atypical mesonephric hyperplasia, Kirsten rat sarcoma 2 viral oncogene homolog (KRAS) mutation, chromosome 1q gain

العلاقة: CANCER GENOMICS & PROTEOMICS; J03713; OAK-2022-03513; https://ir.ymlib.yonsei.ac.kr/handle/22282913/189928Test; T9992020147; CANCER GENOMICS & PROTEOMICS, Vol.17(6) : 813-826, 2020-11

الإتاحة: https://doi.org/10.21873/cgp.20235Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/189928Test

المؤلفون: Pipino, Caterina, Shah, Hetal, Prudente, Sabrina, Di Pietro, Natalia, Zeng, Lixia, Park, Kyoungmin, Trischitta, Vincenzo, Pennathur, Subramanian, Pandolfi, Assunta, Doria, Alessandro

المساهمون: Pipino, Caterina, Shah, Hetal, Prudente, Sabrina, Di Pietro, Natalia, Zeng, Lixia, Park, Kyoungmin, Trischitta, Vincenzo, Pennathur, Subramanian, Pandolfi, Assunta, Doria, Alessandro

مصطلحات موضوعية: cardiovascular-disease, oxidative stre, genetic variant, individual, mellitu, glutathione, metabolism, plasma, beta citryl glutamate, gamma glutamyl amino acid, methylglyoxal, short hairpin RNA, chromosome 1q, allele, ischemic heart disease, non insulin dependent diabetes mellitu, coronary artery disease, Chromosomes, Human, Pair 1

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32651240; info:eu-repo/semantics/altIdentifier/wos/WOS:000571521200018; volume:69; issue:10; firstpage:2206; lastpage:2216; numberofpages:11; journal:DIABETES; http://hdl.handle.net/11564/726726Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85091469818; https://diabetes.diabetesjournals.org/content/69/10/2206.longTest

الإتاحة: https://doi.org/10.2337/db20-0475Test
http://hdl.handle.net/11564/726726Test
https://diabetes.diabetesjournals.org/content/69/10/2206.longTest

المؤلفون: Aagaard Nolting, Line, Brasch-Andersen, Charlotte, Cox, Helen, Kanani, Farah, Parker, Michael, Fry, Andrew E., Loddo, Sara, Novelli, Antonio, Dentici, Maria Lisa, Joss, Shelagh, Jørgensen, Joan P., Fagerberg, Christina R.

المصدر: Aagaard Nolting , L , Brasch-Andersen , C , Cox , H , Kanani , F , Parker , M , Fry , A E , Loddo , S , Novelli , A , Dentici , M L , Joss , S , Jørgensen , J P & Fagerberg , C R 2020 , ' A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis ' , Clinical Genetics , vol. 97 , no. 6 , pp. 927-932 . https://doi.org/10.1111/cge.13739Test

مصطلحات موضوعية: behavioral abnormality, chromosome deletion, chromosomes, human, learning disability, pair 1, ptosis

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/de64dfc2-1925-4b50-853f-16eef21faacfTest

الإتاحة: https://doi.org/10.1111/cge.13739Test
https://portal.findresearcher.sdu.dk/da/publications/de64dfc2-1925-4b50-853f-16eef21faacfTest
https://findresearcher.sdu.dk/ws/files/169126113/A_new_1p36.13_1p36.12_microdeletion_syndrome_characterized_by_learning_disability_behavioral_abnormalities_and_ptosis.pdfTest

المؤلفون: Petersen, Gloria M, Amundadottir, Laufey, Fuchs, Charles S, Kraft, Peter, Stolzenberg-Solomon, Rachael Z, Jacobs, Kevin B, Arslan, Alan A, Bueno-de-Mesquita, H Bas, Gallinger, Steven, Gross, Myron, Helzlsouer, Kathy, Holly, Elizabeth A, Jacobs, Eric J, Klein, Alison P, LaCroix, Andrea, Li, Donghui, Mandelson, Margaret T, Olson, Sara H, Risch, Harvey A, Zheng, Wei, Albanes, Demetrius, Bamlet, William R, Berg, Christine D, Boutron-Ruault, Marie-Christine, Buring, Julie E, Bracci, Paige M, Canzian, Federico, Clipp, Sandra, Cotterchio, Michelle, de Andrade, Mariza, Duell, Eric J, Gaziano, J Michael, Giovannucci, Edward L, Goggins, Michael, Hallmans, Göran, Hankinson, Susan E, Hassan, Manal, Howard, Barbara, Hunter, David J, Hutchinson, Amy, Jenab, Mazda, Kaaks, Rudolf, Kooperberg, Charles, Krogh, Vittorio, Kurtz, Robert C, Lynch, Shannon M, McWilliams, Robert R, Mendelsohn, Julie B, Michaud, Dominique S, Parikh, Hemang, Patel, Alpa V, Peeters, Petra HM, Rajkovic, Aleksandar, Riboli, Elio, Rodriguez, Laudina, Seminara, Daniela, Shu, Xiao-Ou, Thomas, Gilles, Tjønneland, Anne, Tobias, Geoffrey S, Trichopoulos, Dimitrios, Van Den Eeden, Stephen K, Virtamo, Jarmo, Wactawski-Wende, Jean, Wang, Zhaoming, Wolpin, Brian M, Yu, Herbert, Yu, Kai, Zeleniuch-Jacquotte, Anne, Fraumeni, Joseph F, Hoover, Robert N, Hartge, Patricia, Chanock, Stephen J

المصدر: Nature genetics. 42(3)

مصطلحات موضوعية: Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 5, Chromosomes, Human, Pair 13, Humans, Carcinoma, Pancreatic Neoplasms, Genetic Predisposition to Disease, Case-Control Studies, Cohort Studies, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Genome-Wide Association Study, Genetic Loci, Rare Diseases, Cancer, Genetics, Clinical Research, Pancreatic Cancer, Digestive Diseases, Human Genome, Biological Sciences, Medical and Health Sciences, Developmental Biology

الوصول الحر: https://escholarship.org/uc/item/3w13h0v1Test

المؤلفون: Filipa Leitão, Ana Grangeia, Joel Pinto, Armanda Passas, Sofia Dória

المصدر: Neuropediatrics. 53:265-273

مصطلحات موضوعية: Comparative Genomic Hybridization, Cross-Sectional Studies, DNA Copy Number Variations, Chromosomes, Human, Pair 1, Pediatrics, Perinatology and Child Health, Humans, Neurology (clinical), General Medicine, Genetic Association Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55ae65e38de299685795fa39edb4c83cTest
https://doi.org/10.1055/s-0042-1754162Test

المؤلفون: Kantarci, S, Casavant, D, Prada, C, Russell, M, Byrne, J, Haug, L Wilkins, Jennings, R, Manning, S, Boyd, TK, Fryns, JP, Holmes, LB, Donahoe, PK, Lee, C, Kimonis, V, Pober, BR

المصدر: American Journal of Medical Genetics Part A, vol 140A. (1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Digestive Diseases, Pediatric, Neurosciences, Rare Diseases, Human Genome, Perinatal Period - Conditions Originating in Perinatal Period, Congenital Structural Anomalies, Infant Mortality, Aetiology, 2.1 Biological and endogenous factors, Congenital, Abnormalities, Multiple, Chromosome Deletion, Chromosomes, Human, Pair 1, Cleft Palate, Craniofacial Abnormalities, Fatal Outcome, Genetic Predisposition to Disease, Genome, Human, Hernia, Diaphragmatic, Hernias, Diaphragmatic, Congenital, Humans, In Situ Hybridization, Fluorescence, Infant, Infant, Newborn, Karyotyping, Limb Deformities, Congenital, Nails, Malformed, Nucleic Acid Hybridization, Syndrome, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4f05v82jTest

المؤلفون: Jason Chiang, Daniel C. Moreira, Xiaoyu Li, Larissa V. Furtado

المصدر: Acta Neuropathologica. 144:1185-1187

مصطلحات موضوعية: Central Nervous System Neoplasms, Cellular and Molecular Neuroscience, Chromosomes, Human, Pair 1, Meningeal Neoplasms, Humans, Neurology (clinical), Prognosis, Methylation, Neoplasms, Neuroepithelial, Chromosomes, Pathology and Forensic Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bca50f86a26e542134bc50db65319c0bTest
https://doi.org/10.1007/s00401-022-02507-3Test

المؤلفون: Nikolaos Trasanidis, Alexia Katsarou, Kanagaraju Ponnusamy, Yao-An Shen, Ioannis V. Kostopoulos, Bien Bergonia, Keren Keren, Paudel Reema, Xiaolin Xiao, Richard M. Szydlo, Pierangela M. R. Sabbattini, Irene A. G. Roberts, Holger W. Auner, Kikkeri N. Naresh, Aristeidis Chaidos, Tian-Li Wang, Luca Magnani, Valentina S. Caputo, Anastasios Karadimitris

المصدر: Blood. 139:1939-1953

مصطلحات موضوعية: Systems Analysis, Chromosomes, Human, Pair 1, Forkhead Box Protein M1, Pre-B-Cell Leukemia Transcription Factor 1, Immunology, Humans, Cell Biology, Hematology, Multiple Myeloma, Prognosis, Biochemistry, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff02c16b9f9a7eb64c23c77cfe5b61e1Test
https://doi.org/10.1182/blood.2021014391Test

المؤلفون: Eriel Sandika Pareira, Makoto Shibuya, Kentaro Ohara, Yu Nakagawa, Tokunori Kanazawa, Dai Kamamoto, Yasutaka Kato, Eri Arai, Eriko Aimono, Kazunari Yoshida, Hiroshi Nishihara, Yae Kanai, Hikaru Sasaki

المصدر: Brain Tumor Pathology. 39:79-87

مصطلحات موضوعية: Cancer Research, Oncology, Brain Neoplasms, Chromosomes, Human, Pair 1, Mutation, Oligodendroglioma, Humans, Glioma, Neurology (clinical), General Medicine, Prognosis, Chromosomes, Human, Pair 19, Isocitrate Dehydrogenase

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a3e82a7d78f6950aa46f31d562b0f8fTest
https://doi.org/10.1007/s10014-022-00426-5Test

المؤلفون: Tianqing Ding, Jing Yan, Wencai Li, Li Wang, Xiangxiang Wang, Jingliang Cheng, Dongling Pei, Weiwei Wang, Wenchao Duan, Zhen Liu, Xuanke Hong, Zhicheng Li, Zhen-Yu Zhang, Qiuchang Sun, Xianzhi Liu, Chen Sun, Wenqing Wang, Shenghai Zhang, Yu Guo

المصدر: Laboratory Investigation. 102:154-159

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Validation study, Pathology and Forensic Medicine, Deep Learning, medicine, Humans, Internal validation, Molecular Biology, Lower grade, medicine.diagnostic_test, Receiver operating characteristic, Brain Neoplasms, business.industry, Deep learning, Reproducibility of Results, Magnetic resonance imaging, Glioma, Cell Biology, Middle Aged, Prognosis, Magnetic Resonance Imaging, ROC Curve, Chromosomes, Human, Pair 1, Female, Radiology, Artificial intelligence, Chromosome Deletion, Neoplasm Grading, Adult type, Precision and recall, business, Chromosomes, Human, Pair 19

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1450cbe065207825c175f77be6299487Test
https://doi.org/10.1038/s41374-021-00692-5Test