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MARIA TZETIS
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Cited by
Cited by
Year
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
C Castellani, H Cuppens, M Macek Jr, JJ Cassiman, E Kerem, P Durie, ...
Journal of cystic fibrosis 7 (3), 179-196, 2008
8722008
Dating the origin of the CCR5-Δ32 AIDS-resistance allele by the coalescence of haplotypes
JC Stephens, DE Reich, DB Goldstein, HD Shin, MW Smith, M Carrington, ...
The American Journal of Human Genetics 62 (6), 1507-1515, 1998
6891998
Recommendations for the classification of diseases as CFTR-related disorders
C Bombieri, M Claustres, K De Boeck, N Derichs, J Dodge, E Girodon, ...
Journal of Cystic Fibrosis 10, S86-S102, 2011
4802011
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign
JD Groman, TW Hefferon, T Casals, L Bassas, X Estivill, M Des Georges, ...
The American Journal of Human Genetics 74 (1), 176-179, 2004
2892004
Chronic p53-independent p21 expression causes genomic instability by deregulating replication licensing
P Galanos, K Vougas, D Walter, A Polyzos, A Maya-Mendoza, ...
Nature cell biology 18 (7), 777-789, 2016
2782016
New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12
F Pagani, C Stuani, M Tzetis, E Kanavakis, A Efthymiadou, ...
Human molecular genetics 12 (10), 1111-1120, 2003
2482003
CFTR gene mutations – including three novel nucleotide substitutions – and haplotype background in patients with asthma, disseminated bronchiectasis and …
M Tzetis, A Efthymiadou, S Strofalis, P Psychou, A Dimakou, E Pouliou, ...
Human genetics 108, 216-221, 2001
2302001
Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe
T Dörk, M Macek Jr, F Mekus, B Tümmler, J Tzountzouris, T Casals, ...
Human genetics 106, 259-268, 2000
1692000
Serum microRNA array analysis identifies miR-140-3p, miR-33b-3p and miR-671-3p as potential osteoarthritis biomarkers involved in metabolic processes
E Ntoumou, M Tzetis, M Braoudaki, G Lambrou, M Poulou, K Malizos, ...
Clinical epigenetics 9, 1-15, 2017
1452017
Rapid screening of multiple β-globin gene mutations by real-time PCR on the LightCycler: application to carrier screening and prenatal diagnosis of thalassemia syndromes
C Vrettou, J Traeger-Synodinos, M Tzetis, G Malamis, E Kanavakis
Clinical chemistry 49 (5), 769-776, 2003
1372003
TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations
JA O’Rawe, Y Wu, MJ Dörfel, AF Rope, PYB Au, JS Parboosingh, S Moon, ...
The American Journal of Human Genetics 97 (6), 922-932, 2015
1242015
The lysine‐specific methyltransferase KMT 2C/MLL 3 regulates DNA repair components in cancer
T Rampias, D Karagiannis, M Avgeris, A Polyzos, A Kokkalis, Z Kanaki, ...
EMBO reports 20 (3), e46821, 2019
1222019
Genotype–phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B)
E Panagiotakaki, M Tzetis, N Manolaki, G Loudianos, A Papatheodorou, ...
American Journal of Medical Genetics Part A 131 (2), 168-173, 2004
1222004
Meta-analysis of association between the ASPN D-repeat and osteoarthritis
T Nakamura, D Shi, M Tzetis, J Rodriguez-Lopez, Y Miyamoto, A Tsezou, ...
Human molecular genetics 16 (14), 1676-1681, 2007
1142007
Wilson disease in children: analysis of 57 cases
N Manolaki, G Nikolopoulou, GL Daikos, E Panagiotakaki, M Tzetis, ...
Journal of pediatric gastroenterology and nutrition 48 (1), 72-77, 2009
1082009
Asporin and knee osteoarthritis in patients of Greek origin
M Kaliakatsos, M Tzetis, E Kanavakis, P Fytili, G Chouliaras, ...
Osteoarthritis and cartilage 14 (6), 609-611, 2006
982006
Prenatal diagnosis of the thalassaemia syndromes by rapid DNA analytical methods.
E Kanavakis, J Traeger-Synodinos, C Vrettou, E Maragoudaki, M Tzetis, ...
Molecular human reproduction 3 (6), 523-528, 1997
971997
Maternal epigenetics and fetal and neonatal growth
S Kitsiou-Tzeli, M Tzetis
Current Opinion in Endocrinology, Diabetes and Obesity 24 (1), 43-46, 2017
902017
Real‐time PCR for single‐cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic …
C Vrettou, J Traeger‐Synodinos, M Tzetis, G Palmer, C Sofocleous, ...
Human mutation 23 (5), 513-521, 2004
862004
Preimplantation genetic diagnosis in 10 couples at risk for transmitting β‐thalassaemia major: clinical experience including the initiation of six singleton pregnancies
E Kanavakis, C Vrettou, G Palmer, M Tzetis, M Mastrominas, ...
Prenatal diagnosis 19 (13), 1217-1222, 1999
781999
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