Κατάλογος ενδεικτικών δημοσιεύσεων του τμήματος Ιατρικής ΑΠΘ σε διεθνή επιστημονικά περιοδικά κατά τα τελευταία 5 έτη.
Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases..
Ann Rheum Dis. 78(10), 1405-1411.
(2019). De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis..
Cell Rep. 24(13), 3441-3454.e12.
(2018). Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema..
Clin Genet. 94(1), 179-181.
(2018). Frontotemporal dementia as the presenting phenotype of p.A53T mutation carriers in the alpha-synuclein gene..
Parkinsonism Relat Disord. 35, 82-87.
(2017). Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia..
Orphanet J Rare Dis. 12(1), 172.
(2017). A novel MKRN3 nonsense mutation causing familial central precocious puberty..
Endocrine. 56(2), 446-449.
(2017). Complex Rearrangement Involving Three Chromosomes, Four Breakpoints and a 2.7-Mb Deletion in the 18q Segment Observed in a Girl with Mild Learning Difficulties..
Cytogenet Genome Res. 147(2-3), 118-23.
(2015). A family with atypical Hailey Hailey disease--is there more to the underlying genetics than ATP2C1?.
PLoS One. 10(4), e0121253.
(2015). A novel CYLD germline mutation in Brooke-Spiegler syndrome..
J Eur Acad Dermatol Venereol. 29(3), 457-62.
(2015). Genetic assessment of familial and early-onset Parkinson's disease in a Greek population..
Eur J Neurol. 21(7), 963-8.
(2014). Genetic basis of familial isolated hyperparathyroidism: a case series and a narrative review of the literature..
J Bone Miner Metab. 32(4), 351-66.
(2014). Toward male individualization with rapidly mutating y-chromosomal short tandem repeats..
Hum Mutat. 35(8), 1021-32.
(2014). Genetic screening in adolescents with steroid-resistant nephrotic syndrome..
Kidney Int. 84(1), 206-13.
(2013). Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases..
PLoS One. 8(3), e58182.
(2013). Familial clustering strongly suggests that the phenotypic variation of the 8344 A>G lys mitochondrial tRNA mutation is encoded in cis..
Ann Hum Genet. 76(4), 296-300.
(2012). Loss-of-function mutations in MC4R are very rare in the Greek severely obese adult population..
Obesity (Silver Spring). 20(11), 2278-82.
(2012). A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy..
Arch Neurol. 69(9), 1190-2.
(2012).
(2012). TNFRSF13B/TACI alterations in Greek patients with antibody deficiencies..
J Clin Immunol. 31(4), 550-9.
(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). Familial prevalence of autoimmune disorders in multiple sclerosis in Northern Greece..
Mult Scler. 16(9), 1091-101.
(2010). Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin..
Nat Genet. 42(9), 801-5.
(2010). Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation..
J Clin Endocrinol Metab. 95(3), 1137-42.
(2010). Aggressive pituitary adenomas occurring in young patients in a large Polynesian kindred with a germline R271W mutation in the AIP gene..
Eur J Endocrinol. 161(5), 799-804.
(2009). Hereditary angioedema in Greek families caused by novel and recurrent mutations..
Hum Immunol. 70(11), 925-9.
(2009).