M Tzetis

Summary

Affiliation: University of Athens
Country: Greece

Publications

  1. ncbi Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis
    M Tzetis
    Department of Medical Genetics, Medical School, Athens University, Athens, Greece
    Clin Genet 71:451-7. 2007
  2. ncbi Association of repeat polymorphisms in the estrogen receptors alpha, beta (ESR1, ESR2) and androgen receptor (AR) genes with the occurrence of breast cancer
    A Tsezou
    Laboratory of Cytogenetics and Molecular Genetics, Medical School, University of Thessalia, University Hospital of Larissa, Larissa, Greece
    Breast 17:159-66. 2008
  3. ncbi Asporin and knee osteoarthritis in patients of Greek origin
    M Kaliakatsos
    Department of Medical Genetics, Athens University, Aghia Sophia Children s Hospital, Athens, Greece
    Osteoarthritis Cartilage 14:609-11. 2006
  4. ncbi Steroid hormones polymorphisms and cholelithiasis in Greek population
    S Kitsiou-Tzeli
    Medical School, Department of Medical Genetics, Athens, University of Athens, Greece
    Liver Int 27:61-8. 2007
  5. ncbi Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals
    E Kanavakis
    Medical Genetics, Athens University Cystic Fibrosis Unit, Aghia Sophia Children s Hospital, Athens, Greece
    Clin Genet 63:400-9. 2003
  6. ncbi Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene
    M Tzetis
    Department of Medical Genetics, Athens University, Aghia Sophia Children's Hospital, Thivon and Livadias, Athens, 11527, Greece
    Hum Genet 109:592-601. 2001
  7. doi Clinical and molecular description of a fetus in prenatal diagnosis with a rare de novo ring 10 and deletions of 12.59 Mb in 10p15.3-p14 and 4.22 Mb in 10q26.3
    G Christopoulou
    Department of Genetics and Molecular Biology, General, Maternity Gynecological and Pediatric Clinic Mitera, 6 Erythrou Stavrou St, 15123 Maroussi, Athens, Greece
    Eur J Med Genet 55:75-9. 2012
  8. ncbi CFTR gene mutations--including three novel nucleotide substitutions--and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease
    M Tzetis
    Department of Medical Genetics, Athens University, Aghia Sophia Children s Hospital, Thivon and Livadias, Greece
    Hum Genet 108:216-21. 2001
  9. ncbi Preimplantation genetic diagnosis in 10 couples at risk for transmitting beta-thalassaemia major: clinical experience including the initiation of six singleton pregnancies
    E Kanavakis
    First Department of Pediatrics, Athens University, St Sophia s Children s Hospital, Greece
    Prenat Diagn 19:1217-22. 1999
  10. ncbi Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B
    G Loudianos
    Ospedale Regionale Microcitemie, Cagliari, Italy
    Hum Mutat 20:260-6. 2002

Collaborators

Detail Information

Publications14

  1. ncbi Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis
    M Tzetis
    Department of Medical Genetics, Medical School, Athens University, Athens, Greece
    Clin Genet 71:451-7. 2007
    ....
  2. ncbi Association of repeat polymorphisms in the estrogen receptors alpha, beta (ESR1, ESR2) and androgen receptor (AR) genes with the occurrence of breast cancer
    A Tsezou
    Laboratory of Cytogenetics and Molecular Genetics, Medical School, University of Thessalia, University Hospital of Larissa, Larissa, Greece
    Breast 17:159-66. 2008
    ..In conclusion, an association for breast cancer risk between short (SS) alleles for the repeat variants of the ESR2 and AR genes was found in women of Greek descent...
  3. ncbi Asporin and knee osteoarthritis in patients of Greek origin
    M Kaliakatsos
    Department of Medical Genetics, Athens University, Aghia Sophia Children s Hospital, Athens, Greece
    Osteoarthritis Cartilage 14:609-11. 2006
    ..Genotyping Greek knee OA patients for the D repeats we determined that the D15 allele could be considered a risk allele for our population...
  4. ncbi Steroid hormones polymorphisms and cholelithiasis in Greek population
    S Kitsiou-Tzeli
    Medical School, Department of Medical Genetics, Athens, University of Athens, Greece
    Liver Int 27:61-8. 2007
    ..Genetic variation in genes involved in steroid biosynthesis, metabolism and signal transduction have been suggested to play a role in gallstone disease...
  5. ncbi Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals
    E Kanavakis
    Medical Genetics, Athens University Cystic Fibrosis Unit, Aghia Sophia Children s Hospital, Athens, Greece
    Clin Genet 63:400-9. 2003
    ..Prenatal diagnosis was performed in 4 cases and 3 were counseled on the availability of a prenatal test...
  6. ncbi Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene
    M Tzetis
    Department of Medical Genetics, Athens University, Aghia Sophia Children's Hospital, Thivon and Livadias, Athens, 11527, Greece
    Hum Genet 109:592-601. 2001
    ..Nonsense mutation E822X results in a severe reduction in mRNA levels to about 6% of wild type. Patients with the mutation have a severe clinical phenotype, with both the pancreatic and the pulmonary function affected...
  7. doi Clinical and molecular description of a fetus in prenatal diagnosis with a rare de novo ring 10 and deletions of 12.59 Mb in 10p15.3-p14 and 4.22 Mb in 10q26.3
    G Christopoulou
    Department of Genetics and Molecular Biology, General, Maternity Gynecological and Pediatric Clinic Mitera, 6 Erythrou Stavrou St, 15123 Maroussi, Athens, Greece
    Eur J Med Genet 55:75-9. 2012
    ..To our knowledge, this is the first case of a de novo ring chromosome 10 which is reported during prenatal diagnosis and is thoroughly investigated with array CGH and autopsy study...
  8. ncbi CFTR gene mutations--including three novel nucleotide substitutions--and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease
    M Tzetis
    Department of Medical Genetics, Athens University, Aghia Sophia Children s Hospital, Thivon and Livadias, Greece
    Hum Genet 108:216-21. 2001
    ..01), and two COPD patients (P<0.05). These results confirm the involvement of the CFTR gene in asthma, DB and possibly in COPD...
  9. ncbi Preimplantation genetic diagnosis in 10 couples at risk for transmitting beta-thalassaemia major: clinical experience including the initiation of six singleton pregnancies
    E Kanavakis
    First Department of Pediatrics, Athens University, St Sophia s Children s Hospital, Greece
    Prenat Diagn 19:1217-22. 1999
    ..Three singleton pregnancies are still on-going and one ectopic pregnancy was terminated...
  10. ncbi Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B
    G Loudianos
    Ospedale Regionale Microcitemie, Cagliari, Italy
    Hum Mutat 20:260-6. 2002
    ..Further studies are necessary to better quantify the amount of different transcripts produced by these mutations, and establish their correlation with the disease phenotype...
  11. ncbi Gilbert syndrome associated with beta-thalassemia
    M Tzetis
    Medical Genetics, University of Athens, Aghia Sophia Children s Hospital, Greece
    Pediatr Hematol Oncol 18:477-84. 2001
    ..These results confirm that the (TA)7/(TA)7 GS genotype is one of the factors accounting for the hyperbilirubinemia observed in beta-thalassemia major, intermedia, and heterozygous individuals...
  12. ncbi Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptom
    P K Yiallouros
    Clin Genet 71:290-2. 2007
  13. ncbi Pregnancies following blastocyst stage transfer in PGD cycles at risk for beta-thalassaemic haemoglobinopathies
    G A Palmer
    Embryogenesis Fertility Clinic, Kifissias Avenue, Athens 15125, Greece
    Hum Reprod 17:25-31. 2002
    ..We evaluate a strategy involving embryo biopsy on day 3 p.i., genetic analysis on day 4 and, following culture in blastocyst sequential media, transfer of unaffected embryos on day 5 p.i...
  14. pmc Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
    C Castellani
    Cystic Fibrosis Centre, Ospedale Civile Maggiore, Verona, Italy
    J Cyst Fibros 7:179-96. 2008
    ..The importance of communication between clinicians and medical genetic laboratories is emphasized. The results of testing and their implications should be reported in a manner understandable to the clinicians caring for CF patients...