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pro vyhledávání: '"CHROMOSOME-12"'
Akademický článek
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Autor:
Monte A. Del Monte, Berendina De Vries, Arnold London, Wai-Man Chan, Emin Cumhur Sener, Anat Loewenstein, Joseph L. Demer, Elizabeth C. Engle, Nakamichi Saito, Robert P. Cruse, Michael C. Brodsky, A. Nurten Akarsu, Roger H. Johnson, Mark S. Ruttum, Alina A. Zubcov, Alex V. Levin, Naomichi Matsumoto, Blaine L. Hart, Teresa de Berardinis, Lionel Kowal, Ravi Battu, Marlene C. Vogel, Michael O'Keefe, Thomas J. Carlow, Frank Hanisch, Banu T. Öztürk, Caroline Andrews, Robert D. Letson, Moshe Lazar, Eiichiro Uyama, Craig A. McKeown, James A. Katowitz, Scott M. Goldstein, Piergiorgio Franceschini, Richard M. Robb, Lisa Morris, Adriano Magli, Koki Yamada, Peter Roggenkäemper, Nicolas Krawiecki, Willem A. Houtman, John M. Shoffner, Anna Newlin, Elias I. Traboulsi, Irene Gottlob
Publikováno v:
Nature Genetics, 35(4), 318-321. Nature Publishing Group
Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::503f38e3254efb202533148c92abe089
https://research.rug.nl/en/publications/7656e8c1-dbb1-45bb-82c1-1fab398a6a9c
https://research.rug.nl/en/publications/7656e8c1-dbb1-45bb-82c1-1fab398a6a9c
Publikováno v:
Cancer journal. 11(5):242-246
In this article, not intended to be a review of the literature, we present our view about the oncogenesis, pathogenesis and tumor progression of testicular germ cell tumors of adults. This view is based on our cytogenetic analyses df primary testicul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dris___01423::8a373cbe81cecb0dd15e8f2565e6d4e5
https://research.rug.nl/en/publications/dfabaac1-64a8-4055-a5eb-7ef7aab40886
https://research.rug.nl/en/publications/dfabaac1-64a8-4055-a5eb-7ef7aab40886
Publikováno v:
Cancer Genetics and Cytogenetics. 87(2):95-102
Overrepresentation of the short arm of chromosome 12 is frequently detected in human testicular germ cell tumors of adolescents and adults (TGCT). This overrepresentation mostly results from the formation of an isochromosome: i(12p). Whether the over
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dris___00893::93d962c54d2ddd63004ef4f528e92dc2
https://hdl.handle.net/11370/8fe28e21-a688-4324-a0e3-22e513acb1dc
https://hdl.handle.net/11370/8fe28e21-a688-4324-a0e3-22e513acb1dc
Publikováno v:
GENES CHROMOSOMES & CANCER. 14(2):133-144
Malignant transformation may be caused by gene deregulation resulting from specific chromosomal rearrangements, by amplification, by mutations in proto-oncogenes, by loss of tumor suppressor genes, or a combination of these. We investigated the role
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dris___01423::9722b7f356b4b2e1a977dbcee5b8f85b
https://research.rug.nl/en/publications/e7d80049-2905-4918-b299-cec2e72f3766
https://research.rug.nl/en/publications/e7d80049-2905-4918-b299-cec2e72f3766
Publikováno v:
Cancer surveys. 9(2):321-332
Data from cytogenetics of testicular, ovarian and extragonadal germ cell tumours indicate that the group of germ cell tumours for which Skakkebaek proposed the name gonocytoma (seminoma, dysgerminoma and germinoma) is characterized by the presence of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dris___00893::e800a450c76c791327eb79c55b085ca7
https://hdl.handle.net/11370/28224466-7f55-4bea-87e3-cb2f607b55f4
https://hdl.handle.net/11370/28224466-7f55-4bea-87e3-cb2f607b55f4
Publikováno v:
Cancer Genetics and Cytogenetics, 87(2), 95-102. ELSEVIER SCIENCE INC
Overrepresentation of the short arm of chromosome 12 is frequently detected in human testicular germ cell tumors of adolescents and adults (TGCT). This overrepresentation mostly results from the formation of an isochromosome: i(12p). Whether the over
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::ad95cb92e81372cb8d6573318bd379bb
https://research.rug.nl/en/publications/8fe28e21-a688-4324-a0e3-22e513acb1dc
https://research.rug.nl/en/publications/8fe28e21-a688-4324-a0e3-22e513acb1dc
Autor:
Jantje Wiersema-Buist, Bauke de Jong, Hs Koops, Dirk Sleijfer, J. van Echten, Gerhardus te Meerman, J.W. Oosterhuis, L.H.J. Looijenga, M van de Pol
Publikováno v:
GENES CHROMOSOMES & CANCER, 14(2), 133-144. Wiley
Malignant transformation may be caused by gene deregulation resulting from specific chromosomal rearrangements, by amplification, by mutations in proto-oncogenes, by loss of tumor suppressor genes, or a combination of these. We investigated the role
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c0550cd45387f2170cce3067f28b636
https://pubmed.ncbi.nlm.nih.gov/8527395
https://pubmed.ncbi.nlm.nih.gov/8527395
Autor:
de Bruin, Tjerk W.A., Slater, R.M., Defferrari, R., van Kessel, A.G., Suikerbuijk, R.F., Jansen, G., de Jong, B., OOSTERHUIS, JW
Publikováno v:
Cancer Research, 54(6), 1542-1544. AMER ASSOC CANCER RESEARCH
We report the chromosomal characteristics of a recurrent pineal nonseminomatous germ cell tumor in a 16 year-old male patient. This nonseminomatous tumor had the following components: embryonal carcinoma, teratoma, yolk sac tumor, and trophoblastic g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::8f53f4c52631812f54d1e26510cfc712
https://research.rug.nl/en/publications/436336db-9d7b-4bda-bd1c-312520dfb7df
https://research.rug.nl/en/publications/436336db-9d7b-4bda-bd1c-312520dfb7df
Autor:
T W, de Bruin, R M, Slater, R, Defferrari, A, Geurts van Kessel, R F, Suijkerbuijk, G, Jansen, B, de Jong, J W, Oosterhuis
Publikováno v:
Cancer research. 54(6)
We report the chromosomal characteristics of a recurrent pineal non-seminomatous germ cell tumor in a 16-year-old male patient. This non-seminomatous tumor had the following components: embryonal carcinoma, teratoma, yolk sac tumor, and trophoblastic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a5cfcc4d60bdb7b3db67e31fe68e68af
https://pubmed.ncbi.nlm.nih.gov/8137260
https://pubmed.ncbi.nlm.nih.gov/8137260