Κατάλογος ενδεικτικών δημοσιεύσεων του τμήματος Ιατρικής ΑΠΘ σε διεθνή επιστημονικά περιοδικά κατά τα τελευταία 5 έτη.
Export 23 results:
Author Title Type [ Year] Filters: Keyword is DNA Mutational Analysis [Clear All Filters]
First Report of a Coincidental Discovery of Hb Shimonoseki [α54(E3)Gln→Arg, HBA2: c.164A > G (or HBA1)] in a Greek Family..
Hemoglobin. 42(4), 281-282.
(2018). Prevalent somatic BRCA1 mutations shape clinically relevant genomic patterns of nasopharyngeal carcinoma in Southeast Europe..
Int J Cancer. 142(1), 66-80.
(2018). Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema..
Clin Genet. 94(1), 179-181.
(2018). A novel MKRN3 nonsense mutation causing familial central precocious puberty..
Endocrine. 56(2), 446-449.
(2017).
(2016).
Lack of association between KRAS mutations and 18F-FDG PET/CT in Caucasian metastatic colorectal cancer patients..
Anticancer Res. 34(5), 2571-9.
(2014).
(2014). Biomarkers of benefit from cetuximab-based therapy in metastatic colorectal cancer: interaction of EGFR ligand expression with RAS/RAF, PIK3CA genotypes..
BMC Cancer. 13, 49.
(2013). Genetic screening in adolescents with steroid-resistant nephrotic syndrome..
Kidney Int. 84(1), 206-13.
(2013). GREMET: an integrative tool for the prediction of mutation effects on gene regulation..
Comput Methods Programs Biomed. 111(1), 214-9.
(2013). An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder..
J Child Neurol. 28(5), 668-71.
(2013).
(2012).
(2012).
Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece..
Neurosci Lett. 452(2), 87-9.
(2009). Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation..
Eur J Paediatr Neurol. 13(2), 191-3.
(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). Novel human pathological mutations. Gene symbol: SLC3A1. Disease: Cystinuria..
Hum Genet. 126(2), 335.
(2009). Aryl hydrocarbon receptor interacting protein (AIP) gene mutation analysis in children and adolescents with sporadic pituitary adenomas..
Clin Endocrinol (Oxf). 69(4), 621-7.
(2008). Large genomic deletions in AIP in pituitary adenoma predisposition..
J Clin Endocrinol Metab. 93(10), 4146-51.
(2008). Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child..
J Inherit Metab Dis. 30(6), 986.
(2007). Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia..
J Clin Endocrinol Metab. 92(8), 3321-5.
(2007).
(2004).