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1دورية أكاديمية
المؤلفون: Ward, Sarah V., Autuori, Isidora, Luo, Li, LaPilla, Emily, Yoo, Sarah, Sharma, Ajay, Busam, Klaus J., Olilla, David W., Dwyer, Terence, Anton-Culver, Hoda, Zanetti, Roberto, Sacchetto, Lidia, Cust, Anne E., Gallagher, Richard P., Kanetsky, Peter A., Rosso, Stefano, Begg, Colin B., Berwick, Marianne, Thomas, Nancy E., Orlow, Irene
المصدر: Cancers; May2023, Vol. 15 Issue 10, p2707, 14p
مصطلحات موضوعية: PROTEINS, CONFIDENCE intervals, MELANOMA, HISPANIC Americans, LI-Fraumeni syndrome, GENETIC polymorphisms, QUANTITATIVE research, SEX distribution, GENE expression, ESTROGEN receptors, TUMOR suppressor genes, RESEARCH funding, PROGRESSION-free survival, WHITE people, ODDS ratio, LOGISTIC regression analysis, LONGITUDINAL method, PROPORTIONAL hazards models, DISEASE risk factors, EVALUATION
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2دورية أكاديمية
المؤلفون: H. Sahli, Rym Meddeb, M. Chérif, Chiraz Nasr, Aouatef Riahi, Samia Hannachi, Neïla Belguith, Ridha Mrad
مصطلحات موضوعية: The p53 Signaling Network in Cancer Research, Oncology, Medicine, Health Sciences, Hedgehog Signaling in Development and Cancer, Molecular Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Engineering Bacteria for Cancer Treatment, Biotechnology, Tumor Regression, Li–Fraumeni syndrome, Germline, Phenotype, Breast cancer, Germline mutation, Sanger sequencing, Biology, Genotype, Pathology, Genotype-phenotype distinction, Male breast cancer, Genetics, FOS Biological sciences, Cancer, Cancer research, Mutation, Gene
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المؤلفون: Amy L. Roberts, Kim Joana Maurus, Jacob A. Mayfield, D. Joseph Jerry, Divyen H. Patel, Sallie S. Schneider, Evan Savage, Nicholas B. Griner, Lisa Wiesmüller, Trevor A Baptiste, Shannon Compton, Prabin Dhangada Majhi, Anneke C. Blackburn, Jeffrey J. Kane, Karen A. Dunphy
المصدر: Oncogene
مصطلحات موضوعية: 0301 basic medicine, Genetic modifiers, DNA Replication, Cancer Research, DNA Repair, DNA repair, DNA damage, Genetic Linkage, animal diseases, Congenic, Locus (genetics), Genetic mapping, Breast Neoplasms, Biology, Polymorphism, Single Nucleotide, Article, Li-Fraumeni Syndrome, 03 medical and health sciences, Mice, 0302 clinical medicine, Breast cancer, Replication-associated repair, Genetics, Animals, DNA Breaks, Double-Stranded, TP53, Allele, Molecular Biology, Gene, Chromosome 7 (human), Mice, Knockout, Genes, Modifier, DNA replication, Chromosome Mapping, Recombinational DNA Repair, Molecular biology, Disease Models, Animal, 030104 developmental biology, Gene Expression Regulation, Genetic Loci, 030220 oncology & carcinogenesis, Female, Disease Susceptibility, Tumor Suppressor Protein p53
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0df4b8763ea1e0c007c0dba58bbd792aTest
http://europepmc.org/articles/PMC8349885Test -
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المؤلفون: Oluwole Fadare, Karin E. Finberg, Vinita Parkash, Mitchell Clark, Lina Irshaid
المصدر: International Journal of Gynecological Pathology. 41:258-267
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Adolescent, endocrine system diseases, medicine.disease_cause, Malignancy, Germline, Pathology and Forensic Medicine, Li-Fraumeni Syndrome, Germline mutation, medicine, Carcinoma, Humans, Missense mutation, Genetic Predisposition to Disease, neoplasms, Gene, Germ-Line Mutation, Mutation, business.industry, Obstetrics and Gynecology, Genes, p53, medicine.disease, Endometrial Neoplasms, Female, Tumor Suppressor Protein p53, business, Breast carcinoma
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9e30b06f1d16d9937fc6a28d18e64aaTest
https://doi.org/10.1097/pgp.0000000000000792Test -
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المؤلفون: Yania Yáñez, Julia Balaguer, Adela Cañete, Vanessa Segura, Silvestre Oltra, Barbara Torres, Pablo Gargallo, A. Juan, Victoria Castel
المصدر: Clinical and Translational Oncology. 22:978-988
مصطلحات موضوعية: 0301 basic medicine, Cancer Research, DNA Copy Number Variations, endocrine system diseases, Epigenesis, Genetic, Li-Fraumeni Syndrome, 03 medical and health sciences, 0302 clinical medicine, stomatognathic system, Genotype, medicine, Humans, Epigenetics, Copy-number variation, neoplasms, Gene, Genetics, Polymorphism, Genetic, Anticipation, Genetic, Genetic heterogeneity, business.industry, Proto-Oncogene Proteins c-mdm2, General Medicine, Epigenome, Telomere, medicine.disease, Phenotype, Oxidative Stress, 030104 developmental biology, Oncology, Li–Fraumeni syndrome, 030220 oncology & carcinogenesis, Mutation, Gene-Environment Interaction, Tumor Suppressor Protein p53, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::451f343d28be1e499ae415b8b735dbe3Test
https://doi.org/10.1007/s12094-019-02236-2Test -
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المؤلفون: Jill S. Dolinsky, Jessica L. Mester, Paul A. James, Tina Pesaran, Amal Yussuf, Cristina Fortuno, Amanda B. Spurdle, Kelly McGoldrick
المصدر: Cancer Genetics. :11-17
مصطلحات موضوعية: Adult, Male, Proband, Cancer Research, Biology, Germline, Li-Fraumeni Syndrome, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Neoplasms, Genotype, Biomarkers, Tumor, Genetics, Humans, Missense mutation, Genetic Testing, Molecular Biology, Survival rate, Gene, Genetic Association Studies, Germ-Line Mutation, Clinical study design, Prognosis, Survival Rate, 030220 oncology & carcinogenesis, Female, Tumor Suppressor Protein p53
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7ebd1e7d01d967f7f8893dd0a225376Test
https://doi.org/10.1016/j.cancergen.2020.09.002Test -
7Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis
المؤلفون: Jan Hauke, Christoph Engel, Esther Pohl-Rescigno, Stefan Kommoss, Philipp Harter, Julia C. Stingl, Julika Borde, Frederik Marmé, Dimo Dietrich, Nana Weber-Lassalle, Eric Hahnen, Katharina Prieske, Rita K. Schmutzler, Corinna Ernst, Beyhan Ataseven, Konstantin Weber-Lassalle, Alexander Reuss
المصدر: Human Mutation. 39:2040-2046
مصطلحات موضوعية: Adult, 0301 basic medicine, Oncology, medicine.medical_specialty, endocrine system diseases, medicine.medical_treatment, Biology, Li-Fraumeni Syndrome, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, neoplasms, Gene, Early Detection of Cancer, Germ-Line Mutation, Genetics (clinical), Aged, Chemotherapy, Case-control study, DNA, Neoplasm, Middle Aged, medicine.disease, Hematopoiesis, Haematopoiesis, 030104 developmental biology, Li–Fraumeni syndrome, Case-Control Studies, 030220 oncology & carcinogenesis, Female, Observational study, Tumor Suppressor Protein p53, Ovarian cancer
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c3bcf80121f9f3473279e1bf21d92bfTest
https://doi.org/10.1002/humu.23653Test -
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المؤلفون: Francesco Paduano, Fernanda Fabiani, Emma Colao, Francesco Trapasso, Nicola Perrotti, Vito Barbieri, Francesco Baudi, Rodolfo Iuliano
المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 12 (2021)مصطلحات موضوعية: Proband, Genetics, germline TP53 variant, Autosomal dominant trait, Case Report, QH426-470, Biology, medicine.disease, Germline, Frameshift mutation, LFS cancers, Li–Fraumeni syndrome, medicine, Molecular Medicine, Osteosarcoma, Identification (biology), TP53, targeted sequencing, Gene, neoplasms, Genetics (clinical), Li-Fraumeni
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3ae9ff05f3f86f4ec9fe58c386386cbTest
http://europepmc.org/articles/PMC8440986Test -
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المؤلفون: Jill S. Dolinsky, Tina Pesaran, Paul A. James, David E. Goldgar, Amanda B. Spurdle, Amal Yussuf, Cristina Fortuno, Sean V. Tavtigian, Kelly McGoldrick
المصدر: Human mutationREFERENCES. 42(10)
مصطلحات موضوعية: education.field_of_study, Population, Mutation, Missense, Computational biology, Biology, Middle Aged, Genes, p53, Germline, Quantitative model, Li-Fraumeni Syndrome, Annotation, RNA splicing, Genetics, Missense mutation, Humans, Genetic Predisposition to Disease, Tumor Suppressor Protein p53, education, Allele frequency, Gene, Genetics (clinical), Germ-Line Mutation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37323adaa6d5bd32efbd5a78f158f883Test
https://pubmed.ncbi.nlm.nih.gov/34273903Test -
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المؤلفون: Jean Gariépy, James Tran, Aaron Prodeus, Nicholas W. Fischer, David Malkin
المصدر: JNCI: Journal of the National Cancer Institute. 110:1418-1421
مصطلحات موضوعية: Models, Molecular, 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, Protein Conformation, Mutant, Brief Communication, Tp53 mutation, Li-Fraumeni Syndrome, Structure-Activity Relationship, 03 medical and health sciences, Germline mutation, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Gene, Genetic Association Studies, Germ-Line Mutation, business.industry, Prognosis, medicine.disease, Survival Analysis, Penetrance, Phenotype, Confidence interval, 3. Good health, 030104 developmental biology, Li–Fraumeni syndrome, Mutation, Protein Multimerization, Tumor Suppressor Protein p53, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5f0e20694ad82ef8085c4388b61d0b0Test
https://doi.org/10.1093/jnci/djy114Test