The rs10830963 variant of melatonin receptor MTNR1B is associated with increased risk for gestational diabetes mellitus in a Greek population

…, M Gazouli, G Paltoglou, P Christopoulos, L Florentin… - Hormones, 2012 - Springer
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 …

FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: Presentation of 17 cases

…, E Tzortzis, A Athanassiadis, L Florentin… - American Journal of …, 2011 - Wiley Online Library
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 …

Prenatal diagnosis of common aneuploidies using quantitative fluorescent PCR

…, B Ioannis, T Periklis, L Florentin - Prenatal …, 2002 - Wiley Online Library
Objective Quantitative fluorescence‐polymerase chain reaction (QF‐PCR) has recently been
used for the detection of common chromosomal aneuploidies in prenatal diagnosis. Here …

[HTML][HTML] Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

…, M Descartes, JC Franklin, L Florentin-Arar… - European Journal of …, 2009 - nature.com
Down syndrome (DS) is one of the most frequent congenital birth defects, and the most
common genetic cause of mental retardation. In most cases, DS results from the presence of an …

Deletion patterns of Duchenne and Becker muscular dystrophies in Greece.

L Florentin, A Mavrou, K Kekou… - Journal of medical …, 1995 - jmg.bmj.com
We present molecular data from 90 Greek boys with Duchenne or Becker muscular dystrophy
using cDNA analysis or multiplex PCR or both. Deletions were detected in 63.3% of …

[HTML][HTML] Copy number alteration profile provides additional prognostic value for acute lymphoblastic leukemia patients treated on BFM protocols

M Ampatzidou, L Florentin, V Papadakis, G Paterakis… - Cancers, 2021 - mdpi.com
Simple Summary Recent advances in genomic analyses of acute lymphoblastic leukemia (ALL)
have identified novel prognostic markers associated with patient outcome. In this frame, …

[HTML][HTML] The Prognostic Effect of CDKN2A/2B Gene Deletions in Pediatric Acute Lymphoblastic Leukemia (ALL): Independent Prognostic Significance in BFM-Based …

…, G Paterakis, M Tzanoudaki, V Papadakis, L Florentin… - Diagnostics, 2023 - mdpi.com
One of the most frequent genes affected in pediatric ALL is the CDKN2A/2B gene, acting as
a secondary cooperating event and playing an important role in cell-cycle regulation and …

[HTML][HTML] Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries

…, I Verdorfer, DA Coviello, L Florentin… - European journal of …, 2019 - nature.com
Specialists of human genetic diagnostics can be divided into four groups: Medical Geneticists
(MDG), Genetic Nurses and/or Counsellors (GN/GC), Clinical Laboratory Geneticists (CLG…

[HTML][HTML] European registration process for Clinical Laboratory Geneticists in genetic healthcare

…, DA Coviello, L Florentin… - European journal of …, 2017 - nature.com
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 …

Nasopharyngeal carcinoma in childhood and adolescence: a single institution's experience with treatment modalities during the last 15 years

…, K Stefanaki, V Papadakis, L Florentin… - Pediatric Hematology …, 2004 - Taylor & Francis
Pediatric nasopharyngeal carcinoma (NPC) represents a locally advanced undifferentiated
tumor with widely varying epidemiological features and with a high cure rate when combined …