المؤلفون: Greta Morkunaite, Loresa Kriauciuniene, Rasa Liutkeviciene, Brigita Glebauskiene, Alvita Vilkeviciute

المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)
BMC Medical Genetics
BMC medical genetics, London : BioMed Central, 2019, vol. 20, no. 1, 185, p. 1-7

مصطلحات موضوعية: Adenoma, Adult, Male, 0301 basic medicine, lcsh:Internal medicine, medicine.medical_specialty, Genotype, lcsh:QH426-470, Pituitary neoplasm, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Sirtuin 1, Recurrence, Pituitary adenoma, Internal medicine, Genetics, medicine, Humans, Neoplasm Invasiveness, Pituitary Neoplasms, Allele, lcsh:RC31-1245, 616.432-006.55 [udc], Genotyping, Alleles, Genetics (clinical), Aged, rs3740051) gene polymorphisms, business.industry, Haplotype, Pituitary neoplasms, genetics, Polymorphism, genetic, Middle Aged, medicine.disease, Invasiveness, Pituitary Hormones, lcsh:Genetics, 030104 developmental biology, Case-Control Studies, 030220 oncology & carcinogenesis, SIRT1 (rs4746720, Female, business, Research Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fd94f46dc223c760d23c524e643958aTest
https://doi.org/10.1186/s12881-019-0892-xTest

المؤلفون: Lei Lou, Lixia Zhou, Huina Li, Wenyan Wang, Yuehong Li

المصدر: BMC Cancer, Vol 19, Iss 1, Pp 1-7 (2019)
BMC Cancer

مصطلحات موضوعية: Adult, endocrine system, Cancer Research, Pathology, medicine.medical_specialty, endocrine system diseases, Primary hyperparathyroidism, Carcinoid tumors, Case Report, 030209 endocrinology & metabolism, Neuroendocrine tumors, lcsh:RC254-282, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Surgical oncology, Genetics, medicine, Humans, Endocrine system, MEN1, Skeletal metastasis, Multiple endocrine neoplasia, Ovarian Neoplasms, Multiple endocrine neoplasia type 1 syndrome, business.industry, Carcinoid tumor, Multiple Endocrine Neoplasia, Ovary, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, medicine.disease, Oncology, 030220 oncology & carcinogenesis, Female, Differential diagnosis, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8b3f66f3557ce18961ea0ce09e7dbddTest
https://doi.org/10.1186/s12885-019-6332-7Test

المؤلفون: Josephine McGhie, Pawel Herzyk, Elizabeth A. Worthey, Bob Ballantyne, Mark J. Hamilton, Richard E. Petty, Anneli Cooper, Sarah A. Cumming, Maria Elena Farrugia, Michael Tschannen, Jon Warner, Catherine McWilliam, Cheryl Longman, Helen Gregory, Darren G. Monckton, Berit Adam, Yvonne Robb, Graham Hamilton

المصدر: European journal of human genetics : EJHG

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Genetic counseling, Disease, Biology, Myotonic dystrophy, Article, Myotonin-Protein Kinase, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Myotonic Dystrophy, Allele, Gene, variant repeats, Alleles, Genetics (clinical), Aged, PacBio sequencing, somatic instability, Myotonic dystrophy type 1, Myotonin-protein kinase, Middle Aged, medicine.disease, Phenotype, Pedigree, 3. Good health, 030104 developmental biology, Female, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b53ba4241fb7ab6231a60d18c9f99ddaTest
https://doi.org/10.1038/s41431-018-0156-9Test

المؤلفون: Masahiko Aoki, Satoru Iwasa, Narikazu Boku, Ken Kato, Natsuko Okita, Hiroshi Imazeki, Masashi Ishikawa, Yoshitaka Honma, Hirokazu Shoji, Kengo Nagashima, Atsuo Takashima, Takahiro Miyamoto, Shun Yamamoto, Hidekazu Hirano, Ken Masuda

المصدر: BMC Cancer, Vol 19, Iss 1, Pp 1-10 (2019)
BMC Cancer

مصطلحات موضوعية: Male, Oncology, 0301 basic medicine, Cancer Research, Immune checkpoint inhibitors, Programmed Cell Death 1 Receptor, Gastroenterology, Antineoplastic Agents, Immunological, 0302 clinical medicine, Immune-related adverse events, Surgical oncology, Aged, 80 and over, Melanoma, Middle Aged, Prognosis, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Progression-Free Survival, Survival Rate, Diarrhea, medicine.anatomical_structure, Nivolumab, 030220 oncology & carcinogenesis, Female, Immunotherapy, medicine.symptom, Research Article, Adult, medicine.medical_specialty, lcsh:RC254-282, 03 medical and health sciences, Immune system, Stomach Neoplasms, Internal medicine, Genetics, medicine, Adrenal insufficiency, Humans, In patient, Lung cancer, Adverse effect, Aged, Retrospective Studies, Lung, business.industry, Programmed cell death-1, Cancer, medicine.disease, 030104 developmental biology, Hyperglycemia, Gastric cancer, business, Adrenal Insufficiency, Follow-Up Studies, 030215 immunology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c883c55c32a327f03bc4b535bc90574dTest
https://doi.org/10.1186/s12885-019-6150-yTest

المؤلفون: Hossein Fahimi, Sadaf Noavar, Farshid Parvini, Majid Foroutan, Samira Behroozi, Taraneh Tatarcheh

المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)
BMC Medical Genetics

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Case Report, Iran, 030105 genetics & heredity, Connexins, Exon, SLC29A3, Medicine, Frameshift Mutation, Genetics (clinical), Exome sequencing, Genetics, Sanger sequencing, biology, Homozygote, Exons, Middle Aged, Pedigree, Connexin 26, Mutation (genetic algorithm), symbols, Female, GJB6, Adult, lcsh:Internal medicine, Contracture, lcsh:QH426-470, Hearing Loss, Sensorineural, Genetic counseling, Nucleoside Transport Proteins, Frameshift mutation, SLC29A3-disorder, 03 medical and health sciences, symbols.namesake, Connexin 30, Humans, Genetic Predisposition to Disease, lcsh:RC31-1245, Genetic Association Studies, Base Sequence, business.industry, Frame-shift mutation, lcsh:Genetics, Diabetes Mellitus, Type 1, 030104 developmental biology, biology.protein, business, Histiocytosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dac48df1685abb1d0dcd7dcc3b78738Test
https://doi.org/10.1186/s12881-019-0879-7Test

المؤلفون: Pei Xiang, Shi-Ting Feng, Li Huang, Xiaoling Zhang, Yuejiao Lang, Jingxian Shen, Ling Xu, Chaoyang Wang

المصدر: BMC Cancer, Vol 19, Iss 1, Pp 1-12 (2019)
BMC Cancer

مصطلحات موضوعية: Male, 0301 basic medicine, Cancer Research, Biopsy, 0302 clinical medicine, Pancreatic tumor, Medicine, Aged, 80 and over, medicine.diagnostic_test, Middle Aged, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Magnetic Resonance Imaging, Exact test, medicine.anatomical_structure, Oncology, 030220 oncology & carcinogenesis, Female, Radiology, Pancreas, Research Article, Carcinoma, Pancreatic Ductal, CT, MRI, Adult, medicine.medical_specialty, CA-19-9 Antigen, Autoimmune Pancreatitis, lcsh:RC254-282, Diagnosis, Differential, Young Adult, 03 medical and health sciences, Sex Factors, Genetics, Carcinoma, Humans, Pathological, Type 1 autoimmune pancreatitis, Aged, Retrospective Studies, Autoimmune pancreatitis, business.industry, Magnetic resonance imaging, medicine.disease, Pancreatic Neoplasms, 030104 developmental biology, Immunoglobulin G, Tomography, X-Ray Computed, business, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::230fefcf390b54367fe9d61ce9cb516bTest
https://doi.org/10.1186/s12885-019-6027-0Test

المؤلفون: Shaojia Wang, Jiajia Li, Xiaohua Wu, Fei Liu, Shenglin Huang, Xianghuo He, Jie Xie, Yong Wu, Yachen Duan, Ziliang Wang

المصدر: Oncogene. 37:4164-4180

مصطلحات موضوعية: Adult, 0301 basic medicine, Cancer Research, Epithelial-Mesenchymal Transition, Glucose uptake, Programmed Cell Death 1 Receptor, Uterine Cervical Neoplasms, Biology, Metastasis, Mice, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Cell Movement, Cell Line, Tumor, Sirtuin 3, Genetics, medicine, Animals, Humans, Bioluminescence imaging, Receptor, Molecular Biology, Protein kinase B, Aged, Cell Proliferation, Cervical cancer, Mice, Inbred BALB C, Glycogen Synthase Kinase 3 beta, Integrin beta4, Middle Aged, Prognosis, medicine.disease, Glucose, 030104 developmental biology, Lymphatic Metastasis, 030220 oncology & carcinogenesis, SNAI1, Cancer research, Female, Lymph Nodes, Snail Family Transcription Factors, Signal transduction, Proto-Oncogene Proteins c-akt, HeLa Cells, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88f7b719a80b8e88bb40b4b1569539b6Test
https://doi.org/10.1038/s41388-018-0252-xTest

المؤلفون: Ming Xu, Shuanghao Yang, Xue Zhang, Rongrong Wang, Weiyue Gu, Hongyan Liu, Jia Huang

المصدر: Science China Life Sciences. 61:947-953

مصطلحات موضوعية: Adult, Ankyrins, Male, 0301 basic medicine, China, Adolescent, Spherocytosis, Hereditary, Biology, medicine.disease_cause, General Biochemistry, Genetics and Molecular Biology, Hereditary spherocytosis, Young Adult, 03 medical and health sciences, Asian People, ANK1, Anion Exchange Protein 1, Erythrocyte, Exome Sequencing, medicine, Humans, Genetic Predisposition to Disease, Child, Exome, Gene, Exome sequencing, General Environmental Science, Family Health, Genetics, Mutation, Infant, Spectrin, medicine.disease, Pedigree, 030104 developmental biology, Child, Preschool, Female, General Agricultural and Biological Sciences, Haploinsufficiency, Congenital hemolytic anemia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::909c1197ef8e47bdc0caba752f41028aTest
https://doi.org/10.1007/s11427-017-9232-6Test

المؤلفون: Monika Ziegler, Pritti K Priya, Hetvi Patel, Thomas Liehr, Vineet V Mishra, Stuti Tiwari, Alpesh Patel, Shiva Shankar Chettiar

المصدر: Journal of Assisted Reproduction and Genetics. 35:721-725

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Chromosomal translocation, Chromosomal rearrangement, 030105 genetics & heredity, Biology, Translocation, Genetic, 03 medical and health sciences, Pregnancy, Genetics, Humans, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosome Aberrations, Obstetrics and Gynecology, Karyotype, General Medicine, Obstetrics, Reproductive Medicine, Chromosomes, Human, Pair 1, Karyotyping, Female, Chromosomes, Human, Pair 3, Chromosomes, Human, Pair 4, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccd01b5d0a40d003e33a73fd6634f63cTest
https://doi.org/10.1007/s10815-018-1117-5Test

المؤلفون: Andres Ruiz-Linares, Rivera A, Juan-Manuel Alfaro, Astrid J. Rodriguez-Acevedo, Alejandra Marcela Rodríguez, Gabriel Bedoya, Nicolas Pineda-Trujillo

المساهمون: Ruiz-Linares, Andres

المصدر: Journal of Endocrinological Investigation. 41:755-764

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Candidate gene, Linkage disequilibrium, Endocrinology, Diabetes and Metabolism, Ribonuclease H, 030209 endocrinology & metabolism, Single-nucleotide polymorphism, Colombia, Biology, Polymorphism, Single Nucleotide, Linkage Disequilibrium, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Gene Frequency, Polymorphism (computer science), Humans, SNP, Family, Genetic Predisposition to Disease, Child, Allele frequency, ComputingMilieux_MISCELLANEOUS, Genetic Association Studies, Genetics, Haplotype, Chromosome, [SDV] Life Sciences [q-bio], Diabetes Mellitus, Type 1, 030104 developmental biology, Haplotypes, Female, Polymorphism, Restriction Fragment Length

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1fd37ab53929b4a9c4d64ee0fded4d3Test
https://doi.org/10.1007/s40618-017-0797-5Test