Výsledky vyhledávání - "Vassiliki Metaxa-Mariatou"

Abstract P1-03-08: Different genomic rearrangements account for 17% of BRCA1/2 mutations in Greece

Autor: Konstantinos Agiannitopoulos, Ioannis Natsiopoulos, Nikolaos Touroutoglou, Vassiliki Metaxa-Mariatou, Konstantinos Papazisis, V. Venizelos, Antonios Keramopoulos, Aristeidis Tsiftsoglou, Maria Vasilaki-Antonatou, Angela Apessos, Christos Markopoulos, Georgios Nasioulas, Eirini Papadopoulou, Stylianos Kakolyris, Georgios Kesisis, Nikolaos Bredakis, Grigorios Xepapadakis

Publikováno v: Cancer Research. 75:P1-03

AIM: The aim of this study was to further delineate the extent and nature of mutations in the BRCA1 and BRCA2 genes, responsible for hereditary breast and ovarian cancer in Greek families. MATERAILS & METHODS: Genomic DNA was isolated from whole peri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5c36ab9916f69a86b199106faf58cfc3
https://doi.org/10.1158/1538-7445.sabcs14-p1-03-08

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Comprehensive molecular screening by next generation sequencing reveals a distinctive mutational profile of KIT/PDGFRA genes and novel genomic alterations: results from a 20-year cohort of patients with GIST from north-western Greece

Autor: Leonidas Mavroeidis, Anna Batistatou, Dimitrios Petrakis, Stefania Gκoura, George Zarkavelis, George Pentheroudakis, Vassiliki Metaxa-Mariatou, George Nasioulas, Angeliki Maria Lampraki, Eleftherios Kampletsas, Lida Kostadima, Alexandra Papoudou-Bai, Ilias Tsinokou, Alexandra Papadaki

Publikováno v: ESMO Open

Introduction Gastrointestinal stromal tumours (GIST) are mesenchymal neoplasms that usually carry an activating mutation in KIT or platelet-derived growth factor receptor alpha ( PDGFRA ) genes with predictive and prognostic significance. We investig

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76ac5fb6f8082a7d557e6f1e9d14b1b3
https://doi.org/10.1136/esmoopen-2018-000335

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Novel germline mutations of theMEN1gene in Greek families with multiple endocrine neoplasia type 1

Autor: Sotirios A. Raptis, G. Peros, Dimitrios Hadjidakis, Smaragda Kamakari, Melpomeni Peppa, Georgios Koutsodontis, Vassiliki Metaxa-Mariatou, Eleni Boutati, Vasilios Pikounis, Theofanis Economopoulos

Publikováno v: Clinical Endocrinology. 70:75-81

Summary Introduction Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary disorder associated with mutations of the MEN1 gene and characterized by the combined occurrence of tumours of the parathyroid glands, the pancreatic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::341da55ff4b3f2add5594940a0c03909
https://doi.org/10.1111/j.1365-2265.2008.03308.x

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