Κατάλογος ενδεικτικών δημοσιεύσεων του τμήματος Ιατρικής ΑΠΘ σε διεθνή επιστημονικά περιοδικά κατά τα τελευταία 5 έτη.
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Συντάκτης Τίτλος Τύπος [ Έτος] Φίλτρα: Keyword is Genetic Association Studies [Clear All Filters]
Vitamin D receptor Fokl polymorphism is a determinant of both maternal and neonatal vitamin D concentrations at birth..
J Steroid Biochem Mol Biol. 199, 105568.
(2020). Association of Gene Polymorphism rs3027898 With Papillary Cancer Restricted to the Thyroid Gland: A Pilot Study..
In Vivo. 33(6), 2281-2285.
(2019).
(2019).
(2019). 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). Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort..
Neurobiol Aging. 62, 245.e1-245.e7.
(2018). The genetics and molecular pathogenesis of systemic lupus erythematosus (SLE) in populations of different ancestry..
Gene. 668, 59-72.
(2018). Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema..
Clin Genet. 94(1), 179-181.
(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). The role of gene polymorphisms in endometriosis..
Mol Med Rep. 16(5), 5881-5886.
(2017). A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry..
Orphanet J Rare Dis. 12(1), 167.
(2017). Τhe genetics of juvenile idiopathic arthritis: Searching for new susceptibility loci..
Mol Med Rep. 16(6), 8793-8798.
(2017). The effect of increased genetic risk for Alzheimer's disease on hippocampal and amygdala volume..
Neurobiol Aging. 40, 68-77.
(2016).
(2014).
(2014).
Genetic association of refractive error and axial length with 15q14 but not 15q25 in the Blue Mountains Eye Study cohort..
Ophthalmology. 120(2), 292-7.
(2013). Genomic variation in the MAP3K5 gene is associated with β-thalassemia disease severity and hydroxyurea treatment efficacy..
Pharmacogenomics. 14(5), 469-83.
(2013). Investigation of juvenile idiopathic arthritis susceptibility loci: results from a Greek population..
Hum Immunol. 74(9), 1194-8.
(2013). The role of PTPN22 C1858T gene polymorphism in diabetes mellitus type 1: first evaluation in Greek children and adolescents..
Biomed Res Int. 2013, 721604.
(2013). Associations of estrogen receptor alpha and beta gene polymorphisms with sex steroid levels and body fat content in men..
Exp Clin Endocrinol Diabetes. 120(3), 154-9.
(2012). Lack of association of the PICALM rs3851179 polymorphism with Parkinson's disease in the Greek population..
Int J Neurosci. 122(10), 502-605.
(2012). Association of brain-derived neurotrophic factor (BDNF) Val66Met polymorphism with Parkinson's disease in a Greek population..
J Clin Neurosci. 18(12), 1744-5.
(2011). Chromosome abnormalities and the genetics of congenital corneal opacification..
Mol Vis. 17, 1624-40.
(2011).