Κατάλογος ενδεικτικών δημοσιεύσεων του τμήματος Ιατρικής ΑΠΘ σε διεθνή επιστημονικά περιοδικά κατά τα τελευταία 5 έτη.
Circulating microRNAs and Clinicopathological Findings of Papillary Thyroid Cancer: A Systematic Review..
In Vivo. 36(4), 1551-1569.
(2022). Antimicrobial susceptibility and mechanisms of resistance of Greek Clostridium difficile clinical isolates..
J Glob Antimicrob Resist. 16, 53-58.
(2019). Atypical Auditory Brainstem Response and Protein Expression Aberrations Related to ASD and Hearing Loss in the Adnp Haploinsufficient Mouse Brain..
Neurochem Res. 44(6), 1494-1507.
(2019). Beyond an Obvious Cause of Cholestasis in a Toddler: Compound Heterozygosity for Mutations..
Pediatrics. 143(5),
(2019). Genotyping and Mutations in Greek Patients With Non-small-cell Lung Cancer: Incidence, Significance and Implications for Treatment..
Cancer Genomics Proteomics. 16(6), 531-541.
(2019). Hereditary systemic amyloidosis caused by K19T apolipoprotein C-II variant..
Amyloid. 26(1), 52-53.
(2019). Management of children with congenital nephrotic syndrome: challenging treatment paradigms..
Nephrol Dial Transplant. 34(8), 1369-1377.
(2019). MeinteR: A framework to prioritize DNA methylation aberrations based on conformational and cis-regulatory element enrichment..
Sci Rep. 9(1), 19148.
(2019). A New Gene Mutation c.3445G>A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome..
Medicina (Kaunas). 55(7),
(2019). A novel FGF8 mutation in a female patient with isolated congenital anosmia..
Hormones (Athens). 18(2), 241-244.
(2019). "Radiologically Isolated" Spinal Cavernoma Associated with Familial Cerebral Cavernomatosis..
Eur Neurol. 81(5-6), 327-330.
(2019). Relapsed and De Novo Metastatic HER2-positive Breast Cancer Treated With Trastuzumab: Tumor Genotypes and Clinical Measures Associated With Patient Outcome..
Clin Breast Cancer. 19(2), 113-125.e4.
(2019).
(2019). Bridging Cancer Biology with the Clinic: Comprehending and Exploiting IDH Gene Mutations in Gliomas..
Cancer Genomics Proteomics. 15(5), 421-436.
(2018). Compound Heterozygosity for Silent Cap +1570 (T>C) (HBB: c*96T>C), Codon 39 (C>T) (HBB: c.118C>T) and the Presence of ααα/αα in Greece. A Case Presentation..
Hemoglobin. 42(3), 194-195.
(2018). CRISPR/Cas9‒Mediated Tspo Gene Mutations Lead to Reduced Mitochondrial Membrane Potential and Steroid Formation in MA-10 Mouse Tumor Leydig Cells..
Endocrinology. 159(2), 1130-1146.
(2018). Prevalent somatic BRCA1 mutations shape clinically relevant genomic patterns of nasopharyngeal carcinoma in Southeast Europe..
Int J Cancer. 142(1), 66-80.
(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).
(2018). Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease..
Acta Neuropathol. 134(3), 475-487.
(2017). Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia..
Orphanet J Rare Dis. 12(1), 172.
(2017). Netherton Syndrome: A Genotype-Phenotype Review..
Mol Diagn Ther. 21(2), 137-152.
(2017). A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus-Merzbacher disease: A new MRI finding..
Brain Dev. 39(3), 271-274.
(2017). Presence of the IVS-I-6-Mutated Allele in Beta-Thalassemia Major Patients Correlates with Extramedullary Hematopoiesis Incidence..
Acta Haematol. 137(3), 175-182.
(2017). Prognostic Evaluation of Epidermal Growth Factor Receptor (EGFR) Genotype and Phenotype Parameters in Triple-negative Breast Cancers..
Cancer Genomics Proteomics. 14(3), 181-195.
(2017).