Lina Florentin

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OBJECTIVE Quantitative fluorescence-polymerase chain reaction (QF-PCR) has recently been used for the detection of common chromosomal aneuploidies in prenatal diagnosis. Here we describe our experience in prenatal diagnosis of 1100 samples. METHODS Extraction of DNA was performed from amniotic fluid, chorionic villus samples (CVS), fetal blood and fetal(More)
OBJECTIVE To investigate the association between Gestational Diabetes Mellitus (GDM) and the variants rs10830963 and rs1387153 in the MTNR1B locus in a sample of the Greek population. DESIGN One hundred seventy-five unrelated pregnant Greek women (77 with GDM and 98 non-diabetic control subjects) were enrolled and the SNaPshot method was employed in order(More)
BACKGROUND The RNASEL G1385A variant was recently found to be implicated in the development of prostate cancer. Considering the function of RNase L and the pleiotropic effects of mutations associated with cancer, we sought to investigate whether the RNASEL G1385A variant is a risk factor for breast cancer. PATIENTS AND METHODS A total of 453 breast cancer(More)
Fibroblast Growth Factor Receptor 3 (FGFR3) related skeletal dysplasias are caused by mutations in the FGFR3 gene that result in increased activation of the receptors causing alterations in the process of endochondral ossification in all long bones, and include achondroplasia, hypochondroplasia, thanatophoric dysplasia, and SADDAN. Reports of prenatal(More)
Pediatric nasopharyngeal carcinoma (NPC) represents a locally advanced undifferentiated tumor with widely varying epidemiological features and with a high cure rate when combined modality treatment is provided. Both local and systemic treatment is necessary, and additional treatment with biologic modifiers seems promising. In this study, clinical experience(More)
A systematic study of 42 Greek DMD/BMD families using 14 polymorphic markers that span the dystrophin gene was performed in order to assess the position and frequency of recombinants in the Greek population and to test whether “hot spots” of recombination and deletions coincide when exclusively studying DMD/BMD families. We report a low percentage of(More)
Tremendous progress in genetics and genomics led to a wide range of healthcare providers, genetic tests, and more patients who can benefit from these developments. To guarantee and improve the quality of genetic testing, a unified European-based registration for individuals qualified in biomedicine was realized. Therefore a Europe-wide recognition of the(More)
Voice clinicians, as well as singers, always correlate the assessment of the singing voice to the vocal and corporal gestures that model singing, and among these parameters, especially timbre. The authors have shown how and what to see in the timbre; first of all, through analysis of the voice by oscillography and sonagraphy, then through observation of the(More)
BACKGROUND/AIM Uveal melanoma is the most common primary adult intraocular malignancy. It is known to have a strong metastatic potential, fatal for the vast majority of patients. In recent years, meticulous cytogenetic and molecular profiling has led to precise prognostication, that unfortunately is not matched by advancements in adjuvant therapies. G(More)
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