المؤلفون: Lalvani S, Brown RM

المصدر: Journal of Multidisciplinary Healthcare, Vol Volume 17, Pp 1803-1817 (2024)

مصطلحات موضوعية: multisystemic, multidisciplinary team, quality of life, neurofibromatosis, nf expert, nf1, tumor predisposition syndrome, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.dovepress.com/neurofibromatosis-type-1-optimizing-management-with-a-multidisciplinar-peer-reviewed-fulltext-article-JMDH; https://doaj.org/toc/1178-2390

URL الوصول: https://doaj.org/article/073f1f9af19443639be63f72fae4cbe5

المؤلفون: Stefania Martino, Simona De Summa, Brunella Pilato, Maria Digennaro, Letizia Laera, Stefania Tommasi, Margherita Patruno

المصدر: Frontiers in Oncology, Vol 14 (2024)

مصطلحات موضوعية: tumor predisposition syndrome, lung adenocarcinoma, GIST, POT1, case report, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2024.1419739/full; https://doaj.org/toc/2234-943X

URL الوصول: https://doaj.org/article/79fdfc99c2374daf9642fab4a291a3b4

المؤلفون: M. Alonso Grandes, R. Roldán Testillano, A.M. Márquez Negro, C. Cernuda Pereira, M. Dorado Valentín, R. Khedaoui, A. Páez Borda

المصدر: Urology Case Reports, Vol 54, Iss , Pp 102700- (2024)

مصطلحات موضوعية: BAP-1, BAPoma, renal carcinoma, Oncocytoma, Tumor predisposition syndrome, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214442024000548; https://doaj.org/toc/2214-4420

URL الوصول: https://doaj.org/article/d6118ae62f014ae1b1fc0c9b68b0382a

المؤلفون: John A. Vu, Whitney S. Thompson, Denise B. Klinkner, Asma Chattha, Myra Wick, Ellen J. Case, Christopher Collura, Amanika Kumar

المصدر: Gynecologic Oncology Reports, Vol 49, Iss , Pp 101261- (2023)

مصطلحات موضوعية: Risk-reducing bilateral salpingo-oophorectomy, Rhabdoid tumor predisposition syndrome type 2, Small cell carcinoma of the ovary hypercalcemic type, SMARCA4, BRG1, Four box method, Gynecology and obstetrics, RG1-991, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352578923001303; https://doaj.org/toc/2352-5789

URL الوصول: https://doaj.org/article/89d3e62dadfb4c018b8f32a0a14d8356

المؤلفون: Perafan-Valdes L, Giraldo-Ocampo S, Lores J, Pachajoa H

المصدر: Pharmacogenomics and Personalized Medicine, Vol Volume 15, Pp 873-878 (2022)

مصطلحات موضوعية: tumor predisposition syndrome, cafe-au-lait macules, external genitalia development, colombia, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.dovepress.com/neurofibromatosis-type-1-and-hypospadias-in-a-male-46-xy-with-a-mutati-peer-reviewed-fulltext-article-PGPM; https://doaj.org/toc/1178-7066

URL الوصول: https://doaj.org/article/6d40121f69ac461a93537faf8ad47e41

المؤلفون: Suzanne Elizabeth Kosteniuk, George Michaiel, Christopher Dunham

المصدر: Brain Sciences; Volume 13; Issue 7; Pages: 1040

مصطلحات موضوعية: DICER1, tumor predisposition syndrome, sarcoma, neuropathology, pediatric neuro-oncology, ICE chemotherapy

وصف الملف: application/pdf

Relation: Neuro-oncology; https://dx.doi.org/10.3390/brainsci13071040

الاتاحة: https://doi.org/10.3390/brainsci13071040

المؤلفون: Byrjalsen, Anna, Roos, Laura, Diemer, Tue, Karstensen, John Gásdal, Løssl, Kristine, Jelsig, Anne Marie

المصدر: Byrjalsen , A , Roos , L , Diemer , T , Karstensen , J G , Løssl , K & Jelsig , A M 2023 , ' Preimplantation genetic testing in two Danish couples affected by Peutz–Jeghers syndrome ' , Scandinavian Journal of Gastroenterology , vol. 58 , no. 3 , pp. 314-318 . https://doi.org/10.1080/00365521.2022.2129031

مصطلحات موضوعية: family planning, Peutz–Jeghers syndrome, PGT, Preimplantation genetic testing, tumor predisposition syndrome

وصف الملف: application/pdf

الاتاحة: https://researchprofiles.ku.dk/da/publications/preimplantation-genetic-testing-in-two-danish-couples-affected-by-peutzjeghers-syndrome(1727cbe5-0d60-4849-b3a3-cca69cc75fad).html
https://doi.org/10.1080/00365521.2022.2129031
https://curis.ku.dk/ws/files/371610874/Manuscript_18.09.2022.pdf

المؤلفون: Tomoyasu Higashimoto, Christy Haakonsen Smith, Mark R. Hopkins, John Gross, Deyin Xing, Jae W. Lee, Traevia Morris, Joann Bodurtha

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 9, Pp n/a-n/a (2022)

مصطلحات موضوعية: basal cell nevus syndrome, Gorlin syndrome, Gorlin–Goltz syndrome, nevoid basal cell carcinoma syndrome, ovarian stromal tumors, rhabdoid tumor predisposition syndrome, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/3a148da568804f30999342c133c5df6b

المؤلفون: Takafumi Watanabe, Shu Soeda, Yuta Endo, Chikako Okabe, Tetsu Sato, Norihito Kamo, Makiko Ueda, Manabu Kojima, Shigenori Furukawa, Hidekazu Nishigori, Toshifumi Takahashi, Keiya Fujimori

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 3; Pages: 1563

مصطلحات موضوعية: rare hereditary gynecological cancer, Cowden syndrome, Peutz–Jeghers syndrome, DICER1 syndrome, rhabdoid tumor predisposition syndrome 2, molecular genetics

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms23031563

الاتاحة: https://doi.org/10.3390/ijms23031563

المؤلفون: Marcus Zaayman, Peter Nguyen, Annika Silfvast-Kaiser, Jillian Frieder, Cameron West, Katherine Tumminello, So Yeon Paek

المصدر: Journal of Dermatological Treatment, Vol 33, Iss 4, Pp 1855-1860 (2022)

مصطلحات موضوعية: bap1 inactivation, bap1-inactivated cutaneous melanocytic tumor, brca1 associated protein 1, tumor predisposition syndrome, Dermatology, RL1-803

Relation: http://dx.doi.org/10.1080/09546634.2021.1939847; https://doaj.org/toc/0954-6634; https://doaj.org/toc/1471-1753; https://doaj.org/article/4359d712b2ea4b4fb4a0b571ca312ef9

الاتاحة: https://doi.org/10.1080/09546634.2021.1939847
https://doaj.org/article/4359d712b2ea4b4fb4a0b571ca312ef9

المؤلفون: Miguel Berger-Saunderson, Emilio J. Cordova, Alfonso Pérez-Bañuelos, Vanesa Peralta-Velázquez, Atzin A Angeles-Romero, Augusto Sanchez, Lourdes Vega-Vega, Gabriela Escamilla-Asiain, Carmen Esmer

المصدر: Current Problems in Cancer: Case Reports, Vol 4, Iss , Pp 100122- (2021)

مصطلحات موضوعية: Atypical teratoid rhabdoid tumor, ATRT, Rhabdoid tumor predisposition syndrome, Case report, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666621921000703; https://doaj.org/toc/2666-6219

URL الوصول: https://doaj.org/article/1be56a404882410b922a243fe9a2bf15

المؤلفون: Rahul N. Prasad, Ulysses G. Gardner, Alexander Yaney, Daniel M. Prevedello, Daniel C. Koboldt, Diana L. Thomas, Elaine R. Mardis, Joshua D. Palmer

المصدر: Frontiers in Oncology, Vol 11 (2021)

مصطلحات موضوعية: rhabdoid meningioma, meningioma with rhabdoid features, familial BAP1 tumor predisposition syndrome, biallelic BAP1 inactivation, adjuvant radiation therapy, cancer screening, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2021.721712/full; https://doaj.org/toc/2234-943X

URL الوصول: https://doaj.org/article/c612d1e68edf48f8a31f64ac32a0efa9

المؤلفون: Postema, Floor A. M., Oosterwijk, Jan C., Hennekam, Raoul C.

المصدر: Postema , F A M , Oosterwijk , J C & Hennekam , R C 2021 , ' Genetic control of tumor development in malformation syndromes ' , American Journal of Medical Genetics. Part A , no. 2 , pp. 1-12 . https://doi.org/10.1002/ajmg.a.61947

مصطلحات موضوعية: cancer, CNVs, epigenetics, genetic compensation, mosaicism, tumor predisposition syndrome, COPY NUMBER, RET PROTOONCOGENE, MUTATIONS, SUPPRESSOR, PHENOTYPE, COMPENSATION, SURVEILLANCE, PATHOGENESIS

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/440f6d6b-e5d3-4f92-aa21-300d7dd0b59d
https://research.rug.nl/en/publications/440f6d6b-e5d3-4f92-aa21-300d7dd0b59d
https://doi.org/10.1002/ajmg.a.61947
https://pure.rug.nl/ws/files/150261910/Genetic_control_of_tumor_development_in_malformation_syndromes.pdf

المؤلفون: Hülsenbeck, Isabel, Frank, Mirjam, Biewald, Eva, Kanber, Deniz, Lohmann, Dietmar R., Ketteler, Petra

مصطلحات موضوعية: ScholarlyArticle, ddc:610, Medizinische Fakultät » Universitätsklinikum Essen » Zentrum für Kinder- und Jugendmedizin » Klinik für Pädiatrische Hämatologie, Onkologie und Endokrinologie, Medizinische Fakultät » Universitätsklinikum Essen » Institut für Humangenetik, Medizinische Fakultät » Universitätsklinikum Essen » Klinik für Augenheilkunde, Medizinische Fakultät » Universitätsklinikum Essen » Institut für Medizinische Informatik, Biometrie und Epidemiologie, tumor predisposition syndrome, heritable retinoblastoma, pRB, RB1 gene, splice-site variants, classification, 13q-syndrome, screening

Relation: https://doi.org/10.3390/cancers13071605

الاتاحة: https://doi.org/10.3390/cancers13071605
https://nbn-resolving.org/urn:nbn:de:hbz:464-20210602-112853-8
https://duepublico2.uni-due.de/receive/duepublico_mods_00074278
https://duepublico2.uni-due.de/servlets/MCRFileNodeServlet/duepublico_derivate_00074217/cancers-13-01605_Huelsenbeck_et_al.pdf

المؤلفون: Baumgartner, Alicia-Christina, Azizi, Amedeo A.

مصطلحات موضوعية: Pädiatrie, Tumorprädispositionssyndrom, Seltene Erkrankungen, Neurofibrome, Café-au-lait-Flecken, Pediatrics, Tumor predisposition syndrome, Rare diseases, Neurofibromas, Café-au-lait macules (CALMs)

جغرافية الموضوع: UMW:14638

وصف الملف: text/html

Relation: vignette : https://repositorium.meduniwien.ac.at/titlepage/urn/urn:nbn:at:at-ubmuw:3-38052/128; urn:nbn:at:at-ubmuw:3-38052; https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-38052; local:99145986736203331; system:AC16197636

الاتاحة: https://doi.org/10.1007/s41969-021-00128-x
https://repositorium.meduniwien.ac.at/doi/10.1007/s41969-021-00128-x
https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-38052

المؤلفون: Chau, Cindy, van Doorn, Remco, van Poppelen, Natasha M, van der Stoep, Nienke, Mensenkamp, Arjen R, Sijmons, Rolf H, van Paassen, Barbara W, van den Ouweland, Ans M W, Naus, Nicole C, van der Hout, Annemieke H, Potjer, Thomas P, Bleeker, Fonnet E, Wevers, Marijke R, van Hest, Liselotte P, Jongmans, Marjolijn C J, Marinkovic, Marina, Bleeker, Jaco C, Jager, Martine J, Luyten, Gregorius P M, Nielsen, Maartje

المساهمون: Genetica Klinische Genetica, Child Health, Cancer

مصطلحات موضوعية: BAP1, BAP1 tumor predisposition syndrome, Germline, Referral guidelines, Oncology, Cancer Research

وصف الملف: image/pdf

Relation: https://dspace.library.uu.nl/handle/1874/391979

الاتاحة: https://dspace.library.uu.nl/handle/1874/391979

المؤلفون: Chau, C. (Cindy), Doorn, R. (Remco) van, van Poppelen, N.M. (Natasha M.), van der Stoep, N. (Nienke), Mensenkamp, A.R. (Arjen R.), Sijmons, R.H. (Rolf), Paassen, B.W. (Barbara) van, Ouweland, A.M.W. (Ans) van den, Naus, N.C. (Nicole), van der Hout, A.H. (Annemieke H.), Potjer, T.P. (Thomas P.), Bleeker, F.E. (Fonnet), Wevers, M.R., Hest, L.P. (Liselotte) van, Jongmans, M.C.J. (Marjolijn), Marinkovic, M. (Marina), Bleeker, J.C. (Jaco C.), Jager, M.J. (Martine), Luyten, G.P.M. (Gré), Nielsen, M. (Maartje)

المصدر: Cancers vol. 11 no. 8

مصطلحات موضوعية: BAP1, BAP1 tumor predisposition syndrome, Germline, Referral guidelines

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/119056; urn:hdl:1765/119056

الاتاحة: http://repub.eur.nl/pub/119056
https://doi.org/10.3390/cancers11081114

المؤلفون: Leslie A. Fecher, Hakan Demirci, Kelly Z. Young, Sara L Fossum, Lori Lowe, Tobias Else, Kelly B. Cha

المصدر: JAAD Case Reports, Vol 6, Iss 6, Pp 563-566 (2020)
JAAD Case Reports

مصطلحات موضوعية: BAP1, business.industry, Melanoma, Case Report, Dermatology, BRCA-associated protein 1, lcsh:RL1-803, medicine.disease, BAP1, BRCA1-associated protein-1, cutaneous melanoma, BAP1-inactivated nevus, basal cell carcinoma, Tumor predisposition syndrome, Cutaneous melanoma, lcsh:Dermatology, medicine, Cancer research, Basal cell carcinoma, BCC - Basal cell carcinoma, BAP1-TPDS, uveal melanoma, TPDS, tumor predisposition syndrome, business, BCC, basal cell carcinoma

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0abe67a0146980fc43445e3221224770
https://doi.org/10.1016/j.jdcr.2020.04.018

المؤلفون: Lee R. Leddy, Michael J Lyons, David M. Parham, Cynthia T. Welsh, Tiffany G. Baker

المصدر: Pediatric and Developmental Pathology. 24:164-168

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Skin Neoplasms, Adolescent, Epithelioid sarcoma, Infratentorial Neoplasms, Disease, Pathology and Forensic Medicine, Rhabdoid Tumor Predisposition Syndrome, 03 medical and health sciences, 0302 clinical medicine, Cancer Survivors, Biomarkers, Tumor, medicine, Humans, SMARCB1, Child, Rhabdoid Tumor, Brain Neoplasms, business.industry, Infant, Soft tissue, Neoplasms, Second Primary, Sarcoma, SMARCB1 Protein, General Medicine, medicine.disease, Kidney Neoplasms, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, Pediatrics, Perinatology and Child Health, Atypical teratoid rhabdoid tumor, SMARCA4, Immunohistochemistry, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b315d8cc0c7d6dea01ddcde3d106890
https://doi.org/10.1177/1093526620986492

المؤلفون: Hiroko Fukushima, Junichi Hara, Kai Yamasaki, Naomi Ishii, Yasuhiro Matsusaka, Takeshi Inoue, Takahiro Okuno, Hiroyuki Fujisaki, Miho Sakaida, Nozomi Tsujio, Keiko Okada, Akihiro Yoneda, Hiroaki Sakamoto

المصدر: Pathology International. 71:155-160

مصطلحات موضوعية: 0301 basic medicine, Kidney, Pathology, medicine.medical_specialty, business.industry, medicine.medical_treatment, Brain tumor, General Medicine, medicine.disease, Fourth ventricle, Nephrectomy, Pathology and Forensic Medicine, Rhabdoid Tumor Predisposition Syndrome, Radiation therapy, 03 medical and health sciences, Exon, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Medicine, SMARCB1, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c56aeceb92375bfaadda2a4884a6830e
https://doi.org/10.1111/pin.13056