Publications by authors named "Georgia Thodi"

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Dedifferentiated Cervical Mesonephric Adenocarcinoma: Report of 2 Cases of a Previously Undescribed Phenomenon.
Megan Ryan, Ciarán Ó Riain, Georgia Thodi, Stephen Finn, Weihong Ma

Int J Gynecol Pathol· December 2025

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A simplified metabolomic analysis of dried blood spots in breast cancer patients.
Georgia Thodi, Aikaterini Triantopoulou, Aikaterini Iliou, Elina Molou, Yannis Dotsikas

Scand J Clin Lab Invest· September 2024

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Homologous Recombination Deficiency Score Determined by Genomic Instability in a Romanian Cohort.
Viorica-Elena Rădoi, Mihaela Țurcan, Ovidiu Virgil Maioru, Andra Dan, Laurentiu Camil Bohîlțea, Georgia Thodi

Diagnostics (Basel)· May 2023

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Perinatal Reduced Blood Concentrations of Free Carnitine and Acylcarnitines in Infants with Cystic Fibrosis.
Kleopatra H Schulpis, Elina Molou, Penelope Manta-Vogli, Yannis Dotsikas, Georgia Thodi

Am J Perinatol· July 2021

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Identification of five mutations in a patient with galactose metabolic disorders.
Kleopatra H Schulpis, Georgia Thodi, Konstantinos Iakovou, Yannis Dotsikas, Elina Molou

J Pediatr Endocrinol Metab· January 2018

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Mutational analysis of GALT gene in Greek patients with galactosaemia: identification of two novel mutations and clinical evaluation.
Kleopatra H Schulpis, Georgia Thodi, Konstantinos Iakovou, Maria Chatzidaki, Yannis Dotsikas

Scand J Clin Lab Invest· October 2017

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Rare cases of galactose metabolic disorders: identification of more than two mutations per patient.
Kleopatra H Schulpis, Georgia Thodi, Maria Chatzidaki, Konstantinos Iakovou, Elina Molou

J Pediatr Endocrinol Metab· October 2017

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Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases.
Kleopatra H Schulpis, Georgia Thodi, Konstantinos Iakovou, Maria Chatzidaki, Yannis Dotsikas

J Pediatr Endocrinol Metab· July 2017

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Study of the effect of CYP2C19 polymorphisms on omeprazole pharmacokinetics by utilizing validated LC-MS/MS and Real Time-PCR methods.
Maria Koukoula, Yannis Dotsikas, Elina Molou, Kleopatra H Schulpis, Georgia Thodi

J Chromatogr B Analyt Technol Biomed Life Sci· March 2017

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Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn.
Georgia Thodi, Kleopatra H Schulpis, Maria Hatzidaki, Elina Molou, Olga Triantafylli

J Pediatr Endocrinol Metab· March 2016

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Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment.
Georgia Thodi, Kleopatra H Schulpis, Yannis Dotsikas, Christiane Pavlides, Elina Molou

J Pediatr Endocrinol Metab· January 2016

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Clinical diagnostic Next-Generation sequencing: the case of CFTR carrier screening.
Yannis L Loukas, Georgia Thodi, Elina Molou, Vassiliki Georgiou, Yannis Dotsikas

Scand J Clin Lab Invest· September 2015

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Early screening of FTO and MC4R variants in newborns of Greek origin.
Elina Molou, Kleopatra H Schulpis, Christos Birbilis, Georgia Thodi, Vassiliki Georgiou

J Pediatr Endocrinol Metab· May 2015

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Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency in Greek newborns: the Mediterranean C563T mutation screening.
Elina Molou, Kleopatra H Schulpis, Georgia Thodi, Vassiliki Georgiou, Yannis Dotsikas

Scand J Clin Lab Invest· April 2014

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High incidence of partial biotinidase deficiency cases in newborns of Greek origin.
Georgia Thodi, Kleopatra H Schulpis, Elina Molou, Vassiliki Georgiou, Yannis L Loukas

Gene· July 2013

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Characterization of the molecular spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Greek newborns cohort: identification of a novel variant.
Georgia Thodi, Vassiliki Georgiou, Elina Molou, Yannis L Loukas, Yannis Dotsikas

Clin Biochem· October 2012

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Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening.
Georgia Thodi, Elina Molou, Vassiliki Georgiou, Yannis L Loukas, Yannis Dotsikas

J Hum Genet· December 2011

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Expanded newborn screening in Greece: 30 months of experience.
Yannis L Loukas, Georgios-Stefanos Soumelas, Yannis Dotsikas, Vassiliki Georgiou, Elina Molou, Georgia Thodi

J Inherit Metab Dis· December 2010

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Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families.
Georgia Thodi, Florentia Fostira, Raphael Sandaltzopoulos, George Nasioulas, Anastasios Grivas

BMC Cancer· October 2010

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Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients.
Florentia Fostira, Georgia Thodi, Raphael Sandaltzopoulos, George Fountzilas, Drakoulis Yannoukakos

BMC Cancer· July 2010

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Hereditary cancer syndromes.
Florentia Fostira, Georgia Thodi, Irene Konstantopoulou, Raphael Sandaltzopoulos, Drakoulis Yannoukakos

J BUON· September 2007

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