Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Loss of Heterozygosity/genetics"'
Autor:
Lars Dyrskjøt, Andrew Rowan, Priscilla K. Brastianos, Stuart Horswell, Wei-Ting Lu, Gareth A. Wilson, Mickael Escudero, Francesc Castro-Giner, David Allan Moore, Thanos P. Mourikis, Iver Nordentoft, Dhruva Biswas, Katja Harbst, Ian Tomlinson, Fabrice Andre, Lucy R. Yates, Kerstin Haase, Neeltje Steeghs, Michelle Dietzen, Thomas B.K. Watkins, Raymond J. Cho, Hang Xu, Nicholas McGranahan, Boris C. Bastian, Zoltan Szallasi, Fanny Jaulin, Kevin Litchfield, Peter Savas, Marina Petkovic, Franco Caramia, Jonas Demeulemeester, Philippe Lamy, Lavinia Spain, Stefan C. Dentro, Sergi Elizalde, Emilia L. Lim, Lewis Au, Maise Al Bakir, Eva Grönroos, Sally M. Dewhurst, Sherene Loi, Charles Swanton, George D. Cresswell, Mariam Jamal-Hanjani, Samra Turajlic, Göran Jönsson, Nicolai Juul Birkbak, Cecile Vicier, Samuel F. Bakhoum, Vivianne C. G. Tjan-Heijnen, Peter Van Loo, Nicholas M. Luscombe, Peter J. Campbell, Rachel Rosenthal, Roland F. Schwarz
Publikováno v:
Nature, 587(7832), 126-132. Nature Publishing Group
Nature
Watkins, T B K, Lim, E L, Petkovic, M, Elizalde, S, Birkbak, N J, Wilson, G A, Moore, D A, Grönroos, E, Rowan, A, Dewhurst, S M, Demeulemeester, J, Dentro, S C, Horswell, S, Au, L, Haase, K, Escudero, M, Rosenthal, R, Bakir, M A, Xu, H, Litchfield, K, Lu, W T, Mourikis, T P, Dietzen, M, Spain, L, Cresswell, G D, Biswas, D, Lamy, P, Nordentoft, I, Harbst, K, Castro-Giner, F, Yates, L R, Caramia, F, Jaulin, F, Vicier, C, Tomlinson, I P M, Brastianos, P K, Cho, R J, Bastian, B C, Dyrskjøt, L, Jönsson, G B, Savas, P, Loi, S, Campbell, P J, Andre, F, Luscombe, N M, Steeghs, N, Tjan-Heijnen, V C G, Szallasi, Z, Turajlic, S, Jamal-Hanjani, M, Van Loo, P, Bakhoum, S F, Schwarz, R F, McGranahan, N & Swanton, C 2020, ' Pervasive chromosomal instability and karyotype order in tumour evolution ', Nature, vol. 587, pp. 126-132 . https://doi.org/10.1038/s41586-020-2698-6
Nature, vol 587, iss 7832
Nature
Watkins, T B K, Lim, E L, Petkovic, M, Elizalde, S, Birkbak, N J, Wilson, G A, Moore, D A, Grönroos, E, Rowan, A, Dewhurst, S M, Demeulemeester, J, Dentro, S C, Horswell, S, Au, L, Haase, K, Escudero, M, Rosenthal, R, Bakir, M A, Xu, H, Litchfield, K, Lu, W T, Mourikis, T P, Dietzen, M, Spain, L, Cresswell, G D, Biswas, D, Lamy, P, Nordentoft, I, Harbst, K, Castro-Giner, F, Yates, L R, Caramia, F, Jaulin, F, Vicier, C, Tomlinson, I P M, Brastianos, P K, Cho, R J, Bastian, B C, Dyrskjøt, L, Jönsson, G B, Savas, P, Loi, S, Campbell, P J, Andre, F, Luscombe, N M, Steeghs, N, Tjan-Heijnen, V C G, Szallasi, Z, Turajlic, S, Jamal-Hanjani, M, Van Loo, P, Bakhoum, S F, Schwarz, R F, McGranahan, N & Swanton, C 2020, ' Pervasive chromosomal instability and karyotype order in tumour evolution ', Nature, vol. 587, pp. 126-132 . https://doi.org/10.1038/s41586-020-2698-6
Nature, vol 587, iss 7832
Chromosomal instability in cancer consists of dynamic changes to the number and structure of chromosomes(1,2). The resulting diversity in somatic copy number alterations (SCNAs) may provide the variation necessary for tumour evolution(1,3,4). Here we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2fef5ef2907217e87adbb645df2ce11
https://cris.maastrichtuniversity.nl/en/publications/051cede1-f461-4954-a1a6-ac10cdde6f89
https://cris.maastrichtuniversity.nl/en/publications/051cede1-f461-4954-a1a6-ac10cdde6f89
Autor:
Hyunglok Chung, Aamir Nazir, Federico Santoni, Alkistis Manousopoulou, Hugo J. Bellen, Khitab Gul, Graeme C.M. Black, Maqsood Ali Ansari, Stylianos E. Antonarakis, Muhammad Ansar, Rachel L. Taylor, Constantin J. Pournaras, Samina Imtiaz, Emilie Falconnet, Jawad Ahmed, Inayat Shah, Sondas Saeed, Periklis Makrythanasis, Michel Guipponi, Muhammad T. Sarwar, Emmanuelle Ranza
Publikováno v:
Taylor, R L & Black, G 2018, ' Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts ', American Journal of Human Genetics, vol. 103, no. 4, pp. 568-578 . https://doi.org/10.1016/j.ajhg.2018.09.004
Infantile and childhood-onset cataracts form a heterogeneous group of disorders; among the many genetic causes, numerous pathogenic variants in additional genes associated with autosomal-recessive infantile cataracts remain to be discovered. We ident
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64dd3f45d6e6b70caf69d2d3b3c7a9c6
https://doi.org/10.1016/j.ajhg.2018.09.004
https://doi.org/10.1016/j.ajhg.2018.09.004
Autor:
Bernt Popp, Abbas Agaimy, Georgia Vasileiou, Marjolijn C.J. Jongmans, Illja J. Diets, Nel Roeleveld, Nicoline Hoogerbrugge, Markus Metzler, Denisa Ilencikova, Roland P. Kuiper, Annelies M. C. Mavinkurve-Groothuis, Didem Seven, Steffen Uebe, Arif B. Ekici, Jenny Wegert, Rajith Bhaskaran, Esmé Waanders, Manfred Gessler, Christian Thiel, Juliane Hoyer, Ronald R. de Krijger, André Reis, Norbert Graf, Simon V. van Reijmersdal, Christian Vokuhl, Michel V. Hadjihannas
Publikováno v:
International Journal of Cancer, 145, 4, pp. 941-951
International Journal of Cancer, 145, 941-951
International Journal of Cancer, 145(4), 941. Wiley-Liss Inc.
International Journal of Cancer, 145, 941-951
International Journal of Cancer, 145(4), 941. Wiley-Liss Inc.
Graf, Norbert/0000-0002-2248-323X; Reis, Andre/0000-0002-6301-6363; Diets, Illja/0000-0001-7603-8898; Popp, Bernt/0000-0002-3679-1081; Thiel, Christian T/0000-0003-3817-7277; Roeleveld, Nel/0000-0002-3390-4466; Reis, AlessanRSS/0000-0001-8486-7469; V
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d7b87a0f678c336c2af58b01b299313
https://doi.org/10.1002/ijc.32167
https://doi.org/10.1002/ijc.32167
Autor:
Marina Gonçalves Diniz, Alessandra Pires Duarte, Bruna Viana Antonini Guimarães, Carolina Cavaliéri Gomes, Silvia Regina Rogatto, Ricardo Santiago Gomez, Luiz Cláudio Pires Duarte, Rolando A R Villacis
Publikováno v:
Diniz, M G, Duarte, A P, Villacis, R A, Guimarães, B V A, Duarte, L C P, Rogatto, S R, Gomez, R S & Gomes, C C 2017, ' Rare copy number alterations and copy-neutral loss of heterozygosity revealed in ameloblastomas by high-density whole-genome microarray analysis ', Journal of Oral Pathology & Medicine, vol. 46, no. 5, pp. 371-376 . https://doi.org/10.1111/jop.12505
BACKGROUND: Ameloblastoma (unicystic, UA, or multicystic, MA) is a rare tumor associated with bone destruction and facial deformity. Its malignant counterpart is the ameloblastic carcinoma (AC). The BRAFV600E mutation is highly prevalent in all these
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6142ad6ae23b7c57867bf2611b64160
https://portal.findresearcher.sdu.dk/da/publications/e9cb25fb-0e82-4eac-90a6-fc53ceae157f
https://portal.findresearcher.sdu.dk/da/publications/e9cb25fb-0e82-4eac-90a6-fc53ceae157f
Publikováno v:
British Journal of Surgery, Vol. 93, No 5 (2006) pp. 531-538
BACKGROUND: Squamous cell carcinoma of the anal canal provides a model for studying the contribution of human papillomavirus (HPV) and human immunodeficiency virus (HIV) infection to the development of neoplasia. This paper reviews the existing liter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b57d4e971eca429217f0e86b7b402c62
https://pubmed.ncbi.nlm.nih.gov/16607677
https://pubmed.ncbi.nlm.nih.gov/16607677
Autor:
Bruce G. Wolff, Robert W. Beart, Julie M. Cunningham, Lawrence J. Burgart, Stephen N. Thibodeau, Sarah A. Anderson, Adam A. Klipfel, Dieter Hahnloser, Pascal Gervaz
Publikováno v:
Journal of Gastrointestinal Surgery, Vol. 8, No 8 (2004) pp. 1024-30;discussion1031
The molecular mechanisms involved in progression of squamous cell carcinoma of the anus (SCCA) are poorly elucidated, as well as the potential role of HIV infection. Loss of heterozygosity (LOH) is one of the mechanisms responsible for inactivation o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fd60115a588d0f8599b46e602625765
https://pubmed.ncbi.nlm.nih.gov/15585390
https://pubmed.ncbi.nlm.nih.gov/15585390
Publikováno v:
Genes, Chromosomes and Cancer
Genes, Chromosomes and Cancer, Wiley, 2002, 33 (2), pp.141--9. ⟨10.1002/gcc.1222⟩
Genes, Chromosomes and Cancer, Wiley, 2002, 33 (2), pp.141--9. ⟨10.1002/gcc.1222⟩
It has been proposed that women carrying heterozygous mutations of the ATM gene could be at increased risk of developing breast cancer. However, data in the literature are contrasting and no firm conclusion has been reached. Our aim was to verify whe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::655b07d264cbf7cd2dcbbd72aaee3bc8
https://hal.archives-ouvertes.fr/hal-02197508
https://hal.archives-ouvertes.fr/hal-02197508