M
Maria Tzetis
Researcher at National and Kapodistrian University of Athens
Publications - 134
Citations - 5195
Maria Tzetis is an academic researcher from National and Kapodistrian University of Athens. The author has contributed to research in topics: Gene & Population. The author has an hindex of 35, co-authored 125 publications receiving 4659 citations. Previous affiliations of Maria Tzetis include Boston Children's Hospital & Athens State University.
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Journal ArticleDOI
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
Carlo Castellani,Harry Cuppens,Milan Macek,J J Cassiman,Eitan Kerem,Peter R. Durie,Elizabeth Tullis,B.M. Assael,Cristina Bombieri,A. Brown,Teresa Casals,Mireille Claustres,Garry R. Cutting,Els Dequeker,John A Dodge,Iolo Doull,Philip M. Farrell,Claude Férec,E. Girodon,M. Johannesson,Batsheva Kerem,Michael R. Knowles,Anne Munck,Pier Franco Pignatti,Dragica Radojkovic,Paolo Rizzotti,Martin Schwarz,Manfred Stuhrmann,Maria Tzetis,Julian Zielenski,Joseph Elborn +30 more
TL;DR: The conclusions of a consensus conference to address the use and interpretation of CF mutation analysis in clinical settings are described, including the use of CFTR genotype for prediction of prognosis in people with CF at the time of their diagnosis is not recommended.
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Dating the Origin of the CCR5-Δ32 AIDS-Resistance Allele by the Coalescence of Haplotypes
J. Claiborne Stephens,David Reich,David Goldstein,Hyoung Doo Shin,Michael W. Smith,Mary Carrington,Cheryl A. Winkler,Gavin A. Huttley,Rando Allikmets,Lynn M. Schriml,Bernard Gerrard,Michael Malasky,Maria D. Ramos,Susanne Morlot,Maria Tzetis,Carole Oddoux,Francesco S. di Giovine,Georgios Nasioulas,David Chandler,Michael Aseev,Matthew Hanson,Luba Kalaydjieva,Damjan Glavač,Paolo Gasparini,Emmanuel Kanavakis,Mireille Claustres,Marios Kambouris,Harry Ostrer,Gordon W. Duff,Vladislav S Baranov,Hiljar Sibul,Andres Metspalu,David Goldman,Nicholas G. Martin,David L. Duffy,Jörg Schmidtke,Xavier Estivill,Stephen J. O'Brien,Michael Dean +38 more
TL;DR: The geographic cline of CCR5-Delta32 frequencies and its recent emergence are consistent with a historic strong selective event, driving its frequency upward in ancestral Caucasian populations.
Journal ArticleDOI
Recommendations for the classification of diseases as CFTR-related disorders
Cristina Bombieri,Mireille Claustres,K. De Boeck,N Derichs,John A Dodge,E. Girodon,I. Sermet,Martin Schwarz,Maria Tzetis,M. Wilschanski,C Bareil,Diana Bilton,Carlo Castellani,Harry Cuppens,Gr Cutting,Pavel Drevinek,Philip M. Farrell,Js Elborn,Keith Jarvi,Batsheva Kerem,Eitan Kerem,Michael R. Knowles,Milan Macek,Anne Munck,Dragica Radojkovic,Manuela Seia,Dn Sheppard,Kw Southern,Manfred Stuhrmann,Elizabeth Tullis,Julian Zielenski,Pier Franco Pignatti,Claude Férec +32 more
TL;DR: A proposal for consensus guidelines on cystic fibrosis transmembrane conductance regulator ( CFTR)-related disorders (CFTR-RDs), reached after expert discussion and two dedicated workshops is presented.
Journal ArticleDOI
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
Joshua D. Groman,Timothy W. Hefferon,Teresa Casals,Lluís Bassas,Xavier Estivill,Marie des Georges,Caroline Guittard,Monika Koudova,M. Daniele Fallin,Krisztina Németh,György Fekete,Ludovit Kadasi,Ken Friedman,Martin Schwarz,Cristina Bombieri,Pier Franco Pignatti,Emmanuel Kanavakis,Maria Tzetis,Marianne Schwartz,Giuseppe Novelli,Maria Rosaria D'Apice,Agnieszka Sobczyńska-Tomaszewska,Jerzy Bal,Manfred Stuhrmann,Milan Macek,Mireille Claustres,Garry R. Cutting +26 more
TL;DR: In this article, the number of TG repeats adjacent to 5T influences disease penetrance, and the authors determined TG repeat number in 98 patients with male infertility due to congenital absence of the vas deferens, 9 patients with nonclassic CF, and 27 unaffected individuals (fertile men).
Journal ArticleDOI
Chronic p53-independent p21 expression causes genomic instability by deregulating replication licensing
Panagiotis Galanos,Konstantinos Vougas,David Walter,Alexander Polyzos,Apolinar Maya-Mendoza,Emma J. Haagensen,Antonis Kokkalis,Fani-Marlen Roumelioti,Sarantis Gagos,Maria Tzetis,Begoña Canovas,Ana Igea,Akshay K. Ahuja,Ralph Zellweger,Sofia Havaki,Emanuel Kanavakis,Emanuel Kanavakis,Dimitris Kletsas,Igor B. Roninson,Spiros D. Garbis,Massimo Lopes,Angel R. Nebreda,Dimitris Thanos,J. Julian Blow,Paul A. Townsend,Claus Storgaard Sørensen,Jiri Bartek,Jiri Bartek,Vassilis G. Gorgoulis,Vassilis G. Gorgoulis,Vassilis G. Gorgoulis +30 more
TL;DR: The data reveal the tumour-promoting ability of p21 through deregulation of DNA replication licensing machinery—an unorthodox role to be considered in cancer treatment, since p21 responds to various stimuli including some chemotherapy drugs.