Κατάλογος ενδεικτικών δημοσιεύσεων του τμήματος Ιατρικής ΑΠΘ σε διεθνή επιστημονικά περιοδικά κατά τα τελευταία 5 έτη.
Amino acid signatures in the HLA class II peptide-binding region associated with protection/susceptibility to the severe West Nile Virus disease..
PLoS One. 13(10), e0205557.
(2018). Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome..
Eur J Paediatr Neurol. 22(3), 419-426.
(2018). A family with atypical Hailey Hailey disease--is there more to the underlying genetics than ATP2C1?.
PLoS One. 10(4), e0121253.
(2015).
(2014).
Genetic screening in adolescents with steroid-resistant nephrotic syndrome..
Kidney Int. 84(1), 206-13.
(2013). An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder..
J Child Neurol. 28(5), 668-71.
(2013). Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases..
PLoS One. 8(3), e58182.
(2013). Alternative splicing and gene duplication in the evolution of the FoxP gene subfamily..
Mol Biol Evol. 28(1), 237-47.
(2011). Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study..
Lancet Neurol. 10(10), 898-908.
(2011). The role of reelin gene polymorphisms in the pathogenesis of Alzheimer's disease in a Greek population..
J Biol Regul Homeost Agents. 25(3), 351-8.
(2011). Association of POAG risk factors and the Thr377Met MYOC mutation in an isolated Greek population..
Invest Ophthalmol Vis Sci. 51(6), 3055-60.
(2010). Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece..
Neurosci Lett. 452(2), 87-9.
(2009). Contribution of BRCA1 germ-line mutations to breast cancer in Greece: a hospital-based study of 987 unselected breast cancer cases..
Br J Cancer. 101(1), 32-7.
(2009). The effect of an exon 12 polymorphism of the human thromboxane synthase (CYP5A1) gene in stroke patients..
Med Sci Monit. 15(1), BR30-5.
(2009). Li-Fraumeni and Li-Fraumeni-like syndrome mutations in p53 are associated with exonic methylation and splicing regulatory elements..
Mol Carcinog. 48(10), 895-902.
(2009). Targeted KRAS mutation assessment on patient tumor histologic material in real time diagnostics..
PLoS One. 4(11), e7746.
(2009). Non-CpG cytosine methylation of p53 exon 5 in non-small cell lung carcinoma..
Lung Cancer. 50(3), 299-307.
(2005). Classical phenotype of Laron syndrome in a girl with a heterozygous mutation and heterozygous polymorphism of the growth hormone receptor gene..
J Pediatr Endocrinol Metab. 17(3), 371-4.
(2004). The human glutamate dehydrogenase gene family: gene organization and structural characterization..
Genomics. 16(1), 150-60.
(1993).