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Autore [ Titolo] Tipo Anno Filtri: Autore è Athanasakis, Emmanouil [Clear All Filters]
A 3'UTR SNP in NLRP3 gene is associated with susceptibility to HIV-1 infection. J Acquir Immune Defic Syndr 2010;54(3):236-40.
. Abnormal expression of leiomyoma cytoskeletal proteins involved in cell migration. Oncol Rep 2016;35(5):3094-100.
. Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population. Eur J Hum Genet 2011;19(5):593-6.
. Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene. Am J Med Genet A 2014;164A(1):42-7.
. F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls. Clin Exp Rheumatol 2014;32(6):993-4.
. Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study. Pediatr Rheumatol Online J 2015;13:11.
. Genetics of food preferences: a first view from silk road populations. J Food Sci 2012;77(12):S413-8.
. High-throughput genotyping robot-assisted method for mutation detection in patients with hypertrophic cardiomyopathy. Diagn Mol Pathol 2011;20(3):175-9.
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Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. Am J Med Genet A 2014;164A(1):170-6.
. A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family. Ophthalmic Genet 2013;34(1-2):115-7.
. The p53 transcriptional pathway is preserved in ATMmutated and NOTCH1mutated chronic lymphocytic leukemias. Oncotarget 2014;5(24):12635-45.
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