المؤلفون: Wiesner, Thomas, Kiuru, Maija, Scott, Sasinya N, Arcila, Maria, Halpern, Allan C, Hollmann, Travis, Berger, Michael F, Busam, Klaus J

المصدر: The American Journal of Surgical Pathology. 39(10)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Cancer, Neurofibromatosis, Rare Diseases, Neurosciences, Adult, Aged, Aged, 80 and over, Biomarkers, Tumor, DNA Mutational Analysis, Female, Genes, Neurofibromatosis 1, Genetic Predisposition to Disease, High-Throughput Nucleotide Sequencing, Humans, Male, Melanoma, Middle Aged, Mutation, Phenotype, Skin Neoplasms, Young Adult, desmoplastic melanoma, neurofibromin 1, mutation, next-generation sequencing, Clinical Sciences, Pathology, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/96j6d9wzTest

المؤلفون: Yoshihiro Nishida, Yosuke Yamada, Masahiro Hirata, Hironori Haga, Akio Sakamoto, Shuichi Matsuda, Kan Ito, Takashi Noguchi

المصدر: Pathology International. 71(6):392-399

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, Antibodies, Neoplasm, Clone (cell biology), Soft Tissue Neoplasms, Desmoid type fibromatosis, 0302 clinical medicine, DNA mutational analysis, Medicine, CTNNB1, Child, beta Catenin, Aged, 80 and over, biology, Fibromatosis, Soft tissue, Fibroblastic Neoplasm, General Medicine, Middle Aged, Fibromatosis, Aggressive, 030220 oncology & carcinogenesis, Child, Preschool, immunohistochemistry, cytoplasm, Immunohistochemistry, Female, Antibody, Adult, medicine.medical_specialty, Beta-catenin, Adolescent, beta-catenin 1, Pathology and Forensic Medicine, Diagnosis, Differential, 03 medical and health sciences, Young Adult, Biomarkers, Tumor, 17C2, Humans, LEF1, Aged, business.industry, Infant, desmoid-type fibromatosis, beta-catenin, medicine.disease, 030104 developmental biology, Mutation, biology.protein, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5aaecfb01b82775c9b0bb906a2d5ee52Test
http://hdl.handle.net/2433/276590Test

المؤلفون: Chaofu Wang, Ouyang Binshen, Hongmei Yi, Bin Gu, Lei Dong, Jun Zhou, Xia Shen, Luting Zhou

المصدر: Pathology International. 71:183-190

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Adolescent, Chromosomal translocation, Biology, Translocation, Genetic, Pathology and Forensic Medicine, SAM Domain and HD Domain-Containing Protein 1, 03 medical and health sciences, 0302 clinical medicine, hemic and lymphatic diseases, medicine, Humans, In patient, B-cell lymphoma, Gene, In Situ Hybridization, Fluorescence, B cell, Aged, Gene Rearrangement, Cancer, General Medicine, Middle Aged, medicine.disease, Lymphoma, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Interferon Regulatory Factors, Mutation, Female, Lymphoma, Large B-Cell, Diffuse, IRF4

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d325d3242e9056307c84281a5eef9daaTest
https://doi.org/10.1111/pin.13067Test

المؤلفون: Luis J Leandro-García, Guillermo Velasco, Bruna Calsina, Georgia Anguera, Pablo Maroto, Rocío Letón, Maria José Santos, María Monteagudo, Ángel M Martínez-Montes, Eduardo Caleiras, Jesús García-Donas, Cristina Rodríguez-Antona, Cristina Montero-Conde, Alberto Cascón, Javier Lanillos, Mercedes Robledo, Juan María Roldan-Romero

المصدر: MODERN PATHOLOGY
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, DNA Mutational Analysis, Chromophobe Renal Cell Carcinoma, medicine.disease_cause, Tuberous Sclerosis Complex 1 Protein, Pathology and Forensic Medicine, Metastasis, 03 medical and health sciences, 0302 clinical medicine, Tuberous Sclerosis Complex 2 Protein, Biomarkers, Tumor, Carcinoma, Humans, Medicine, PTEN, Genetic Predisposition to Disease, Phosphorylation, Carcinoma, Renal Cell, PI3K/AKT/mTOR pathway, Survival analysis, Aged, Aged, 80 and over, Mutation, biology, business.industry, Ribosomal Protein S6 Kinases, TOR Serine-Threonine Kinases, PTEN Phosphohydrolase, High-Throughput Nucleotide Sequencing, Middle Aged, medicine.disease, Immunohistochemistry, Kidney Neoplasms, Phenotype, 030104 developmental biology, 030220 oncology & carcinogenesis, biology.protein, Cancer research, Female, Tumor Suppressor Protein p53, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a50154d9d97b395a18bd54a21f25602Test
https://doi.org/10.1038/s41379-020-0607-zTest

المؤلفون: Csaba Bödör, Béla E. Tóth, Judit Csomor, Sarolta Kárpáti, József Tímár, Norbert Kiss, Judit Hársing, Erzsébet Rásó

المصدر: Virchows Archiv

مصطلحات موضوعية: Male, 0301 basic medicine, Neuroblastoma RAS viral oncogene homolog, Pathology, MAP Kinase Kinase 1, GTP Phosphohydrolases, Exon, 0302 clinical medicine, Mutation Rate, Langerhans cell histiocytosis, MAP2K1, Mutation frequency, Indeterminate Cell Histiocytosis, Brief Report, Incidence (epidemiology), KIT, General Medicine, Middle Aged, Prognosis, Proto-Oncogene Proteins c-kit, Phenotype, 030220 oncology & carcinogenesis, Female, Adult, Proto-Oncogene Proteins B-raf, medicine.medical_specialty, Adolescent, NRAS, Skin Diseases, BRAF, Pathology and Forensic Medicine, Young Adult, 03 medical and health sciences, medicine, Humans, Genetic Predisposition to Disease, Molecular Biology, Aged, business.industry, Wild type, Infant, Membrane Proteins, Cell Biology, medicine.disease, Histiocytosis, Langerhans-Cell, 030104 developmental biology, Mutation, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11d83b66be36767835e9967802a7377eTest
https://doi.org/10.1007/s00428-020-02820-wTest

المؤلفون: Kiyong Na, Jae Yol Lim, Sun Och Yoon, Juan C. Hernandez-Prera, Ha Young Woo

المصدر: Modern Pathology

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Biology, Protein Serine-Threonine Kinases, medicine.disease_cause, Article, Translocation, Genetic, Pathology and Forensic Medicine, DNA Glycosylases, Fusion gene, 03 medical and health sciences, Young Adult, 0302 clinical medicine, AMP-Activated Protein Kinase Kinases, MUTYH, medicine, Cancer genomics, Biomarkers, Tumor, Humans, Genetic Predisposition to Disease, Trypsin, Head and neck cancer, Child, Cancer genetics, Aged, Hereditary pancreatitis, Mutation, medicine.diagnostic_test, Proto-Oncogene Proteins c-ets, Carcinoma, Histone-Lysine N-Methyltransferase, Middle Aged, medicine.disease, Salivary Gland Neoplasms, Repressor Proteins, ETV6, 030104 developmental biology, 030220 oncology & carcinogenesis, Adenocarcinoma, Female, Carcinogenesis, MutL Protein Homolog 1, Fluorescence in situ hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fb4af46e8209c001c15eee938ccf856Test
http://europepmc.org/articles/PMC7113190Test

المؤلفون: Jaclyn F. Hechtman, Efsevia Vakiani, Monika Vyas, David S. Klimstra, Canan Firat, Avani Desai, Jinru Shia, Lik Hang Lee, Karuna Ganesh, Zsofia K. Stadler, Peter Ntiamoah, Liying Zhang, Arnold J. Markowitz, Martin R. Weiser, Neil H. Segal, Tao Wang

المصدر: Modern Pathology. 32:1551-1562

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Colorectal cancer, Somatic cell, medicine.disease_cause, DNA Mismatch Repair, Article, Pathology and Forensic Medicine, 03 medical and health sciences, Antineoplastic Agents, Immunological, 0302 clinical medicine, Germline mutation, Biomarkers, Tumor, medicine, Humans, Pathological, Aged, Mutation, business.industry, Microsatellite instability, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Immune checkpoint, Treatment Outcome, 030104 developmental biology, 030220 oncology & carcinogenesis, Cancer research, Female, Microsatellite Instability, DNA mismatch repair, Colorectal Neoplasms, MutL Protein Homolog 1, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75f2933b539afb3585edefbbecfa8697Test
https://doi.org/10.1038/s41379-019-0289-6Test

المؤلفون: Shufeng Li, Annette Bakker, Kavita Y. Sarin, Mika M. Tabata, Pamela Knight

المصدر: JCI Insight, Vol 5, Iss 16 (2020)
JCI Insight

مصطلحات موضوعية: 0301 basic medicine, Adult, Pathology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Adolescent, Malignant peripheral nerve sheath tumor, Comorbidity, Dermatology, Spinal neurofibromas, 03 medical and health sciences, Young Adult, 0302 clinical medicine, medicine, Prevalence, Neurofibroma, Humans, Genetic variation, Registries, Neurofibromatosis, neoplasms, Aged, Neurofibromin 1, business.industry, Genetic heterogeneity, Genetic disorder, General Medicine, Phenotypic trait, Middle Aged, medicine.disease, nervous system diseases, 030104 developmental biology, Phenotype, Dysplasia, 030220 oncology & carcinogenesis, Mutation, Medicine, business, Neurological disorders, Research Article, Genetic diseases, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b2985be0c1f54c8a1ca7f5cb518d27dTest
https://doaj.org/article/097c0850c842415abb2e9486dc716821Test

المؤلفون: Alessandra Cocomazzi, Esther Diana Rossi, Guido Fadda, Celestino Pio Lombardi, Marco Dell'Aquila, Liron Pantanowitz, Maurizio Martini, Teresa Musarra, Sara Capodimonti, Vincenzo Fiorentino, Alfredo Pontecorvi, Luigi Maria Larocca, Alessia Granitto

مصطلحات موضوعية: Male, Cancer Research, Pathology, endocrine system diseases, Settore MED/18 - CHIRURGIA GENERALE, Biopsy, Papillary, Thyroid Gland, Thyroid Cancer, medicine.disease_cause, B7-H1 Antigen, 0302 clinical medicine, Cytology, Adenocarcinoma, Follicular, Atypia, Thyroid cancer, Middle Aged. Mutation, Tumor, Thyroid, personalized medicine, Middle Aged, Immunohistochemistry, medicine.anatomical_structure, Oncology, Thyroid Cancer, Papillary, 030220 oncology & carcinogenesis, Female, Adult, Proto-Oncogene Proteins B-raf, medicine.medical_specialty, Adolescent, Biopsy, Fine-Needle, Mutation, Missense, 030209 endocrinology & metabolism, Adenocarcinoma, Malignancy, BRAF mutation, fine-needle aspiration cytology, programmed death-ligand 1 (PD-L1), thyroid cancer, Thyroid carcinoma, 03 medical and health sciences, Young Adult, medicine, Biomarkers, Tumor, Humans, BRAF mutation, fine-needle aspiration cytology, personalized medicine, programmed death-ligand 1 (PD-L1), thyroid cancer, Adenocarcinoma, Follicular, Adolescent, Adult, Aged, B7-H1 Antigen, Biomarkers, Tumor, Biopsy, Fine-Needle, Female, Humans, Immunohistochemistry, Male, Middle Aged. Mutation, Missense, Proto-Oncogene Proteins B-raf, Reproducibility of Results, Thyroid Cancer, Papillary, Thyroid Gland, Thyroid Neoplasms, Young Adult, Thyroid Neoplasms, Thyroid neoplasm, Aged, Suspicious for Malignancy, Settore MED/08 - ANATOMIA PATOLOGICA, business.industry, Follicular, Reproducibility of Results, medicine.disease, Mutation, Fine-Needle, Missense, business, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce355eba4478824fb98050d20684a368Test
http://hdl.handle.net/10807/178328Test

المؤلفون: Miaomiao Wang, Xinqing Zhang

المصدر: Neurogenetics

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, Disease, Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS), medicine.disease_cause, Exon, 0302 clinical medicine, Leukoencephalopathies, Genetics (clinical), Aged, 80 and over, Mutation, medicine.diagnostic_test, Brain, Autosomal dominant trait, Exons, Middle Aged, Magnetic Resonance Imaging, White Matter, Pedigree, Phenotype, Receptors, Granulocyte-Macrophage Colony-Stimulating Factor, Disease Progression, Female, medicine.symptom, Hydrocephalus, Adult, Heterozygote, medicine.medical_specialty, Novel mutation, Short Communication, Asymptomatic, Colony stimulating factor 1 receptor, 03 medical and health sciences, Cellular and Molecular Neuroscience, Gait disturbance, Seizures, Genetics, medicine, Humans, Diagnostic Errors, Gait Disorders, Neurologic, Aged, Genetic testing, business.industry, Sequence Analysis, DNA, medicine.disease, Axons, 030104 developmental biology, Atrophy, Cognition Disorders, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e70d5d61635b047651435a1e906c159Test
https://doi.org/10.1007/s10048-019-00579-0Test