Κατάλογος ενδεικτικών δημοσιεύσεων του τμήματος Ιατρικής ΑΠΘ σε διεθνή επιστημονικά περιοδικά κατά τα τελευταία 5 έτη.
Export 29 results:
Συντάκτης Τίτλος Τύπος [ Έτος] Φίλτρα: Keyword is Heterozygote [Clear All Filters]
(2019).
Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort..
Neurobiol Aging. 62, 245.e1-245.e7.
(2018). Compound Heterozygosity for Hb Adana (HBA2: c.179G>A) and the -α/αα Thalassemia Deletion in Greece: Clinical Phenotype and Genetic Counseling..
Hemoglobin. 42(2), 129-131.
(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). Fatal intoxication with antidepressants: a case with many culprits..
Forensic Sci Med Pathol. 14(2), 225-228.
(2018). Impact of ZBTB7A hypomethylation and expression patterns on treatment response to hydroxyurea..
Hum Genomics. 12(1), 45.
(2018). Frontotemporal dementia as the presenting phenotype of p.A53T mutation carriers in the alpha-synuclein gene..
Parkinsonism Relat Disord. 35, 82-87.
(2017). A Multi-Cohort Study of ApoE ɛ4 and Amyloid-β Effects on the Hippocampus in Alzheimer's Disease..
J Alzheimers Dis. 56(3), 1159-1174.
(2017). A novel MKRN3 nonsense mutation causing familial central precocious puberty..
Endocrine. 56(2), 446-449.
(2017). Thrombophilic gene polymorphisms and recurrent pregnancy loss in Greek women..
Int J Lab Hematol. 39(6), 590-595.
(2017). Heterozygous liver transplantation for maple syrup urine disease: First European reported case..
Pediatr Transplant. 20(6), 846-50.
(2016). Surfactant Protein A and B Gene Polymorphisms and Risk of Respiratory Distress Syndrome in Late-Preterm Neonates..
PLoS One. 11(11), e0166516.
(2016). A family with atypical Hailey Hailey disease--is there more to the underlying genetics than ATP2C1?.
PLoS One. 10(4), e0121253.
(2015).
(2015). ESHRE Task Force on Ethics and Law 21: genetic screening of gamete donors: ethical issues..
Hum Reprod. 29(7), 1353-9.
(2014). High prevalence of BRCA1 founder mutations in Greek breast/ovarian families..
Clin Genet. 85(1), 36-42.
(2014). Role of 9p21 and 2q36 variants and arterial stiffness in the prediction of coronary artery disease..
Eur J Clin Invest. 44(8), 784-94.
(2014). Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases..
PLoS One. 8(3), e58182.
(2013). KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in β-hemoglobinopathy patients..
Pharmacogenomics. 13(13), 1487-500.
(2012).
(2012). Familial hemophagocytic lymphohistiocytosis in a pediatric patient diagnosed by brain magnetic resonance imaging..
Neuropediatrics. 42(5), 191-3.
(2011). APOE ε2 allele is associated with larger regional cortical thicknesses and volumes..
Dement Geriatr Cogn Disord. 30(3), 229-37.
(2010). Compound heterozygosity for hemoglobin E-Saskatoon and ß-thalassemia..
J Obstet Gynaecol Res. 36(5), 1148.
(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).
(2009).