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1دورية أكاديمية
المؤلفون: Barnett, Marie1 (AUTHOR) barnettm@mskcc.org, Breen, Kelsey E.2 (AUTHOR), Kennedy, Jennifer A.2 (AUTHOR), Hernandez, Marisol3,4 (AUTHOR), Matsoukas, Konstantina3 (AUTHOR), MacGregor, Meredith5 (AUTHOR)
المصدر: Clinical Genetics. Feb2022, Vol. 101 Issue 2, p161-182. 22p.
مصطلحات موضوعية: *LI-Fraumeni syndrome, *YOUNG adults, *GENETIC testing, *INDIVIDUAL needs, *MEDICAL screening
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2دورية أكاديمية
المؤلفون: Kharaziha, Pedram1 (AUTHOR), Ceder, Sophia1 (AUTHOR), Axell, Olga1 (AUTHOR), Krall, Moritz1 (AUTHOR), Fotouhi, Omid1 (AUTHOR), Böhm, Stefanie1 (AUTHOR), Lain, Sonia2 (AUTHOR), Borg, Åke3 (AUTHOR), Larsson, Catharina1 (AUTHOR), Wiman, Klas G.1 (AUTHOR), Tham, Emma4,5 (AUTHOR), Bajalica‐Lagercrantz, Svetlana1,5 (AUTHOR) svetlana.lagercrantz@ki.se
المصدر: Clinical Genetics. Sep2019, Vol. 96 Issue 3, p216-225. 10p. 1 Color Photograph, 2 Black and White Photographs, 2 Diagrams, 1 Chart.
مصطلحات موضوعية: *LI-Fraumeni syndrome, *FAMILIES, *TRANSCRIPTION factors, *BREAST cancer
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3دورية أكاديمية
المؤلفون: Warby, Meera1, Tucker, Katherine M.1,2, Wakefield, Claire E.3, Vetsch, Janine3
المصدر: Clinical Genetics. Jan2019, Vol. 95 Issue 1, p140-150. 11p. 1 Diagram, 2 Charts.
مصطلحات موضوعية: *LI-Fraumeni syndrome, *GENETIC testing, *CHILD patients, *PEDIATRIC diagnosis, *SYSTEMATIC reviews
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4دورية أكاديمية
المؤلفون: Ariffin, H., Chan, A.S.L., Oh, L., Abd‐Ghafar, S., Ong, G.B., Mohamed, M., Razali, H., Juraida, E., Teo, S.H., Karsa, M., Shamsani, J., Hainaut, P.
المصدر: Clinical Genetics; Nov2015, Vol. 88 Issue 5, p450-455, 6p, 1 Chart, 2 Graphs
مصطلحات موضوعية: COHORT analysis, GENETIC mutation, STOMACH cancer, CANCER risk factors, LI-Fraumeni syndrome, PATIENTS
الشركة/الكيان: INTERNATIONAL Agency for Research on Cancer
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5دورية أكاديمية
المؤلفون: Fostira, F., Konstantopoulou, I., Mavroudis, D., Tryfonopoulos, D., Yannoukakos, D., Voutsinas, G.E.
المصدر: Clinical Genetics; Apr2015, Vol. 87 Issue 4, p383-387, 5p, 1 Diagram
مصطلحات موضوعية: GENETIC disorders, BREAST cancer, PHENOTYPES, GENETIC testing, LI-Fraumeni syndrome, GENETIC mutation
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المؤلفون: Moritz Krall, Åke Borg, Catharina Larsson, Olga Axell, Emma Tham, Stefanie Böhm, Omid Fotouhi, Svetlana Bajalica-Lagercrantz, Sophia Ceder, Pedram Kharaziha, Sonia Lain, Klas G. Wiman
المصدر: Clinical genetics. 96(3)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Genotype, Apoptosis, 030105 genetics & heredity, Biology, Germline, Frameshift mutation, Li-Fraumeni Syndrome, 03 medical and health sciences, Transactivation, Cell Line, Tumor, Genetics, medicine, Missense mutation, Humans, splice, Genetic Predisposition to Disease, Genetics (clinical), Alleles, Genetic Association Studies, Germ-Line Mutation, Sweden, Genetic Variation, Sequence Analysis, DNA, medicine.disease, Protein Transport, 030104 developmental biology, Amino Acid Substitution, Gene Expression Regulation, Li–Fraumeni syndrome, Genetic Loci, Medical genetics, Tumor Suppressor Protein p53, Nuclear localization sequence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71bdb32e544b601974e2ba791f309fc7Test
https://pubmed.ncbi.nlm.nih.gov/31081129Test -
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المؤلفون: Hany Ariffin, G.B. Ong, Pierre Hainaut, Halim Razali, Mahfuzah Mohamed, M. Karsa, Adelyne S. L. Chan, S.H. Teo, Eni Juraida, S. Abd-Ghafar, Lixian Oh, J. Shamsani
المصدر: Clinical Genetics. 88:450-455
مصطلحات موضوعية: Oncology, Genetics, medicine.medical_specialty, business.industry, Cancer, Environmental exposure, Tp53 mutation, medicine.disease, Early Gastric Cancer, Li–Fraumeni syndrome, Internal medicine, medicine, Tumour suppressor gene, Age of onset, business, Caucasian population, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::16039c2a0d4fee710459ee74c28b15aeTest
https://doi.org/10.1111/cge.12525Test -
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المؤلفون: P. Ang, I. H. K. Lim, Ann S. G. Lee, R. Y. Y. Yong
المصدر: Clinical Genetics. 75:294-297
مصطلحات موضوعية: Adult, BRCA2 Protein, Oncology, medicine.medical_specialty, Base Sequence, BRCA1 Protein, business.industry, DNA Mutational Analysis, Molecular Sequence Data, Cancer, medicine.disease, Li-Fraumeni Syndrome, Li–Fraumeni syndrome, Internal medicine, Mutation, Genetics, medicine, Humans, Family, Female, Amino Acid Sequence, Family history, Apoptosis Regulatory Proteins, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6d1d6d799d30cc6d0d6d58e49702c1eTest
https://doi.org/10.1111/j.1399-0004.2008.01133.xTest -
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المؤلفون: Irene Konstantopoulou, Florentia Fostira, Drakoulis Yannoukakos, Dimitris Mavroudis, Gerassimos E. Voutsinas, Dimitrios Tryfonopoulos
المصدر: Clinical Genetics. 87:383-387
مصطلحات موضوعية: Proband, Oncology, Genetics, medicine.medical_specialty, medicine.diagnostic_test, Tumor suppressor gene, business.industry, medicine.disease, Penetrance, Genetic analysis, Breast cancer, Li–Fraumeni syndrome, Internal medicine, medicine, Family history, skin and connective tissue diseases, business, Genetics (clinical), Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::dddaa707d124a9e8be8c448b84a5989eTest
https://doi.org/10.1111/cge.12397Test -
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المؤلفون: Hany Ariffin, Soo Sin Choong, Zarina Abdul Latiff, Lelamekala Vengidasan, E. J. Abdul Rahman, Halim Razali, Leon Li Wen Lim, Kok-Siong Chen, Mahfuzah Mohamed
المصدر: Clinical genetics. 82(6)
مصطلحات موضوعية: Oncology, medicine.medical_specialty, DNA Mutational Analysis, Tp53 mutation, Germline, Li-Fraumeni Syndrome, Internal medicine, Genetics, medicine, Carcinoma, Adrenocortical Carcinoma, Adrenocortical carcinoma, Humans, Genetic Testing, Child, Genetics (clinical), Germ-Line Mutation, business.industry, Incidence (epidemiology), Malaysia, Cancer, medicine.disease, Pedigree, Li–Fraumeni syndrome, Mutation testing, Tumor Suppressor Protein p53, business, Sentinel Surveillance
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::769cc91b919cd319b535d2a72d2b5a9dTest
https://pubmed.ncbi.nlm.nih.gov/22233476Test