Genomes and Genes
Affiliation: University of Athens
- Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitisM Tzetis
Department of Medical Genetics, Medical School, Athens University, Athens, Greece
Clin Genet 71:451-7. 2007....
- Association of repeat polymorphisms in the estrogen receptors alpha, beta (ESR1, ESR2) and androgen receptor (AR) genes with the occurrence of breast cancerA 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...
- Asporin and knee osteoarthritis in patients of Greek originM 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...
- Steroid hormones polymorphisms and cholelithiasis in Greek populationS 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...
- Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individualsE 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...
- 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 geneM 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...
- 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 10q26.3G 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...
- CFTR gene mutations--including three novel nucleotide substitutions--and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary diseaseM 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...
- Single-cell high resolution melting analysis: A novel, generic, pre-implantation genetic diagnosis (PGD) method applied to cystic fibrosis (HRMA CF-PGD)A Destouni
Department of Medical Genetics, University of Athens, St Sophia s Children s Hospital, Athens, Greece
J Cyst Fibros 15:163-70. 2016....
- Preimplantation genetic diagnosis in 10 couples at risk for transmitting beta-thalassaemia major: clinical experience including the initiation of six singleton pregnanciesE 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...
- Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implicationsV Oikonomakis
Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece
Clin Genet 89:708-18. 2016..Among the 51 patients, 39 carried one CNV, 10 carried two CNVs and 2 carried three CNVs. The use of CMA, its clinical validity and utility was assessed. ..
- Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptomP K Yiallouros
Clin Genet 71:290-2. 2007
- Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7BG 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...
- Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practiceC 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...
- Gilbert syndrome associated with beta-thalassemiaM 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...
- Pregnancies following blastocyst stage transfer in PGD cycles at risk for beta-thalassaemic haemoglobinopathiesG 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...