- Rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome: case reportV Velissariou
Department of Genetics and Molecular Biology, Mitera General, Maternity and Pediatric Clinic, 6, Erythrou Stavrou and Kifissias Avenue, Maroussi, 15123 Athens, Greece
Eur J Med Genet 49:331-7. 2006..Testicular histopathology revealed atrophy of the testes with no spermatogenesis and absence of germ cells. Molecular analysis showed paternal inheritance of the extra X chromosome...
- Loss of the Y chromosome PAR2 region and additional rearrangements in two familial cases of satellited Y chromosomes: cytogenetic and molecular analysisV Velissariou
Department of Genetics and Molecular Biology, Mitera General, Maternity and Pediatric Clinic, 6 Eryrthrou Street and Kifissias, 15123 Athens, Greece
Eur J Med Genet 50:291-300. 2007....
- Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrationsPaola Evangelidou
Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
Mol Cytogenet 3:24. 2010..of 1 Mb was applied and results were confirmed with either Fluorescence In Situ Hybridization (FISH), Multiplex Ligation-dependant Probe Amplification (MLPA) or Real-Time PCR...
- Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patientsMarkos Mihalatos
Molecular Biology Research Center HYGEIA Antonis Papayiannist, Athens, Greece
BMC Cancer 5:40. 2005..The vast majority of APC mutations are point mutations or small insertions/deletions which lead to truncated protein products. Splicing mutations or gross genomic rearrangements are less common inactivating events of the APC gene...