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Auditory Processing and Speech-Sound Disorders.
Drosos K, Papanicolaou A, Voniati L, Panayidou K, Thodi C. Drosos K, et al. Brain Sci. 2024 Mar 19;14(3):291. doi: 10.3390/brainsci14030291. Brain Sci. 2024. PMID: 38539678 Free PMC article. Review.
The findings were summarized for children with SSD and APD based on (a) metalinguistic and literacy skills, (b) cognitive abilities, and (c) temporal processing abilities. Three articles indicated that children with APD and SSD exhibit lower temporal task accuracy and reac …
The findings were summarized for children with SSD and APD based on (a) metalinguistic and literacy skills, (b) cognitive abilities, and ( …
Adult hearing screening: follow-up and outcomes1.
Thodi C, Parazzini M, Kramer SE, Davis A, Stenfelt S, Janssen T, Smith P, Stephens D, Pronk M, Anteunis LI, Schirkonyer V, Grandori F. Thodi C, et al. Am J Audiol. 2013 Jun;22(1):183-5. doi: 10.1044/1059-0889(2013/12-0060). Am J Audiol. 2013. PMID: 23800816
Homologous Recombination Deficiency Score Determined by Genomic Instability in a Romanian Cohort.
Rădoi VE, Țurcan M, Maioru OV, Dan A, Bohîlțea LC, Dumitrescu EA, Gheorghe AS, Stănculeanu DL, Thodi G, Loukas YL, Săbău ID. Rădoi VE, et al. Diagnostics (Basel). 2023 May 29;13(11):1896. doi: 10.3390/diagnostics13111896. Diagnostics (Basel). 2023. PMID: 37296748 Free PMC article.
Among them, 30 patients had unsuitable samples for HRD testing due to insufficient tumor content or DNA integrity. Using the OncoScan C.N.V. platform, HRD testing was successfully performed on the remaining 70 patients, with 20 testing negative and 50 testing positive for …
Among them, 30 patients had unsuitable samples for HRD testing due to insufficient tumor content or DNA integrity. Using the OncoScan C …
Mutational analysis of GALT gene in Greek patients with galactosaemia: identification of two novel mutations and clinical evaluation.
Schulpis KH, Thodi G, Iakovou K, Chatzidaki M, Dotsikas Y, Molou E, Triantafylli O, Loukas YL. Schulpis KH, et al. Scand J Clin Lab Invest. 2017 Oct;77(6):423-427. doi: 10.1080/00365513.2017.1334262. Epub 2017 Jun 23. Scand J Clin Lab Invest. 2017. PMID: 28644047
Eleven different mutations in the GALT gene were detected in the patient cohort, including two novel ones. The most frequent mutation was p.Q188R (c.563 A > G). As for the novel mutations, p.M298I (c.894 G > A) was identified in four out of 32 independent alle …
Eleven different mutations in the GALT gene were detected in the patient cohort, including two novel ones. The most frequent mutation was p. …
Characterization of the molecular spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Greek newborns cohort: identification of a novel variant.
Thodi G, Georgiou V, Molou E, Loukas YL, Dotsikas Y, Biti S, Papadopoulos K, Doulgerakis E. Thodi G, et al. Clin Biochem. 2012 Oct;45(15):1167-72. doi: 10.1016/j.clinbiochem.2012.05.030. Epub 2012 Jun 6. Clin Biochem. 2012. PMID: 22683754
RESULTS: The MCADD prevalence is 1 in 15,937 births. The alleles c.985A>G and c.245insT were detected in the 29.2% and 20.8% of the "suspected" cohort, respectively. ...Therefore, this variant along with the c.985A>G allele could constitute a panel for …
RESULTS: The MCADD prevalence is 1 in 15,937 births. The alleles c.985A>G and c.245insT were detected in the 29.2% and 20.8 …
Contribution of BRCA1 germ-line mutations to breast cancer in Greece: a hospital-based study of 987 unselected breast cancer cases.
Armaou S, Pertesi M, Fostira F, Thodi G, Athanasopoulos PS, Kamakari S, Athanasiou A, Gogas H, Yannoukakos D, Fountzilas G, Konstantopoulou I. Armaou S, et al. Br J Cancer. 2009 Jul 7;101(1):32-7. doi: 10.1038/sj.bjc.6605115. Epub 2009 Jun 2. Br J Cancer. 2009. PMID: 19491894 Free PMC article.
Previous studies in Greek breast and/or ovarian cancer patients with family history have shown that four specific BRCA1 mutations, c.5266dupC, G1738R, and two large genomic rearrangements involving deletions of exons 20 and 24, have a prominent function in the population's …
Previous studies in Greek breast and/or ovarian cancer patients with family history have shown that four specific BRCA1 mutations, c. …