Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Mateja, Krajc"'
Autor:
David Humberto Marmolejo, Mark Yu Zheng Wong, Svetlana Bajalica-Lagercrantz, Marc Tischkowitz, Judith Balmaña, Attila Balázs Patócs, Pierre Chappuis, Chrystelle Colas, Maurizio Genuardi, Maria Haanpää, Hildegunn Hoberg Vetti, Nicoline Hoogerbrugge, Arvids Irmejs, Tiina Kahre, Barbara Klink, Mateja Krajc, Tamara Hussong Milagre, Robin de Putter, Verena Steinke-Lange, Karin Wadt, Katharina Wimmer
Publikováno v:
European Journal of Medical Genetics, 64, 12
European Journal of Medical Genetics, 64
European Journal of Medical Genetics, 64
Item does not contain fulltext Hereditary breast and ovarian cancer (HBOC) is a syndrome defined by an increased risk of developing breast and/or ovarian cancer most commonly due to germline disease-causing variants in the BRCA1 and BRCA2 genes, but
Autor:
Vita Setrajcic Dragos, Srdjan Novaković, Vida Stegel, Gašper Klančar, Ana Blatnik, Mateja Krajc, Olga Blatnik
Publikováno v:
Frontiers in Genetics
Frontiers in Genetics, Vol 10 (2019)
Frontiers in Genetics, Vol 10 (2019)
Neurofibromatosis type I (NF1) is one of the most common autosomal dominant disorders, since the estimated incidence is one in 3,500 births. In this study, we present bioinformatical and functional characterization of two novel splicing NF1 variants,
Autor:
Mateja Krajc, Vesna Vogrič, Srdjan Novaković, Gašper Klančar, Barbara Gazic, Ana Blatnik, Vita Setrajcic Dragos, Primož Drev, Vida Stegel, Olga Blatnik
Publikováno v:
Genes
Volume 11
Issue 3
Genes, Vol 11, Iss 3, p 325 (2020)
Volume 11
Issue 3
Genes, Vol 11, Iss 3, p 325 (2020)
The diagnostics of Lynch syndrome (LS) is focused on the detection of DNA mismatch repair (MMR) system deficiency. MMR deficiency can be detected on tumor tissue by microsatellite instability (MSI) using molecular genetic test or by loss of expressio
Autor:
Ana Blatnik, Vida Stegel, Ljiljana Stamatovic, Vita Setrajcic Dragos, Mateja Krajc, Jelena Rakobradovic, Stevo Jovandic, Ana Krivokuca, Srdjan Novaković, Ivana Boljevic, Mirjana Brankovic Magic, Petra Škerl
Publikováno v:
Familial cancer. 17(2)
Mutations in breast cancer susceptibility gene 1 (BRCA1) lead to defects in a number of cellular pathways including DNA damage repair and transcriptional regulation, resulting in the elevated genome instability and predisposing to breast and ovarian
Autor:
Nikola Besic, E. Teugels, Vida Stegel, V Zadnik, Janez Žgajnar, Marko Hočevar, Mateja Krajc, Aleš Vakselj, Srdjan Novaković, J De Greve
Publikováno v:
Clinical Genetics. 85:59-63
Knowledge of the geographical distribution of highly recurrent mutations may be useful for efficient screening in cancer families. Since the cloning of the BRCA1/2 genes, it is known that the wide spectrum of deleterious mutations shows high ethnic a
Autor:
Janez Zgajnar, Mateja Krajc, Katarina Lokar, Srdan Novakovic, Barabara Cernivc, Jacques De Greve, Erik Teugels, Nikola Besic
Publikováno v:
Vrije Universiteit Brussel
Male breast cancer (MBC) is a rare disease, comprising less than 1% of breast cancer patients in Slovenia. Some inherited cases are due to the mutations of BRCA1 or BRCA2 genes. There is no information available about the frequency of BRCA gene mutat
Autor:
Erik Teugels, Marko Hočevar, Vida Stegel, Srdjan Novaković, Jacques De Greve, Mateja Krajc, Janez Žgajnar
Publikováno v:
BMC Medical Genetics
Vrije Universiteit Brussel
BMC Medical Genetics, Vol 12, Iss 1, p 9 (2011)
Vrije Universiteit Brussel
BMC Medical Genetics, Vol 12, Iss 1, p 9 (2011)
Background The BRCA1 and BRCA2 mutation spectrum and mutation detection rates according to different family histories were investigated in 521 subjects from 322 unrelated Slovenian cancer families with breast and/or ovarian cancer. Methods The BRCA1
Publikováno v:
Vrije Universiteit Brussel
Linkage analysis has identified BRCA1 and BRCA2 germline mutations as the major cause for cancer predisposition in breast and/or ovarian cancer families. In previous screening efforts on Belgian families we had a BRCA1/2 gene mutation detection rate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c412c4b0410aa13cb159e65c8fa0aee
https://researchportal.vub.be/en/publications/e3964fd0-4ee7-4677-84cc-c28182392c62
https://researchportal.vub.be/en/publications/e3964fd0-4ee7-4677-84cc-c28182392c62
Autor:
Janez Zgajnar, Jacques De Greve, Guido Goelen, Erik Teugels, Mateja Krajc, Srdjan Novaković, Nikola Besic, Marko Hočevar
Publikováno v:
BMC Medical Genetics, Vol 9, Iss 1, p 83 (2008)
Vrije Universiteit Brussel
BMC Medical Genetics
Vrije Universiteit Brussel
BMC Medical Genetics
Background Both recurrent and population specific mutations have been found in different areas of the world and more specifically in ethnically defined or isolated populations. The population of Slovenia has over several centuries undergone limited m