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Review Article

Omics in laboratory medicine

, , , , &
Pages 13-16 | Published online: 23 Sep 2013

References

  • Castaldo G, Lembo F, Tomaiuolo R. Molecular diagnostics: between chips and customized medicine. Clin Chem Lab Med 2010;48:973–82
  • Berni Canani R, Terrin G, Cardillo G, et al. Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management. J Pediatr Gastroenterol Nutr 2010;50:360–6
  • Terrin G, Tomauolo R, Passariello A, et al. Congenital diarrheal disorders: an updated diagnostic approach. Int J Mol Sci 2012;13: 4168–85
  • Amato F, Bellia C, Cardillo G, et al. Extensive molecular analysis of patients bearing CFTR-Related disorders. J Mol Diagn 2012;14:81–9
  • Castaldo G, Nardiello P, Bellitti F, et al. Haemophilia B: from molecular diagnosis to gene therapy. Clin Chem Lab Med 2003;41:445–51
  • Santacroce R, Acquila M, Belvini D, et al. Identification of 217 unreported mutations in the F8 gene in a group of 1410 unselected Italian patients with hemophilia A. J Hum Genet 2008;53:275–8
  • Belvini D, Salviato R, Radossi P, et al. Molecular genotyping of the Italian cohort of patients with haemophilia B. Haematologica 2005;90:635–42
  • Tomaiuolo R, Nardiello P, Martinelli P, et al. Prenatal diagnosis of cystic fibrosis: an experience of 181 cases. Clin Chem Lab Med 2013:1--6. doi: 10.1515/cclm-2013-0200
  • Zarrilli F, Sanna V, Santamaria R, et al. Prenatal diagnosis of haemophilia: our experience on 44 cases. Clin Chem Lab Med 2013:1--6. doi: 10.1515/cclm-2013-0205
  • Elce A, Boccia A, Cardillo G, et al. Three novel CFTR polymorphic repeats improve segregation analysis for cystic fibrosis. Clin Chem 2009;55:1372–9
  • Tomaiuolo R, Spina M, Castaldo G. Molecular diagnosis of Cystic Fibrosis: comparison of four analytical procedures. Clin Chem Lab Med 2003;41:26–32
  • Castaldo G, Rippa E, Sebastio G, et al. Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedure. J Med Genet 1996;33:475–9
  • Castaldo G, Fuccio A, Cazeneuve C, et al. Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutations. Clin Chem 1999;45:957–62
  • Castaldo G, Polizzi A, Tomaiuolo R, et al. Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in southern Italy population. Ann Hum Genet 2005;69:15–24
  • Sanna V, Zarrilli F, Nardiello P, et al. Mutational spectrum of F8 gene and prothrombotic gene variants in haemophilia A patients from Southern Italy. Haemophilia 2008;14:796–803
  • Castaldo G, Nardiello P, Bellitti F, et al. Denaturing HPLC procedure for factor IX gene scanning. Clin Chem 2003;49:815–8
  • Fuccio A, Iorio M, Amato F, et al. A Novel DHPLC-Based procedure for the analysis of COL1A1 and COL1A2 mutations in osteogenesis imperfecta. J Mol Diagn 2011;13:648–56
  • Daniele A, Cardillo G, Pennino C, et al. Molecular epidemiology of phenylalanine hydroxilase deficiency in Southern Italy: a 96% detection rate with ten novel mutations. Ann Hum Genet 2007;71:185–93
  • Tomaiuolo R, Sangiuolo F, Bombieri C, et al. Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: a multicentric Italian study. J Cyst Fibrosis 2008;7:347–51
  • Sanna V, Ceglia C, Tarsitano M, et al. Aberrant F8 gene intron 1 inversion with concomitant duplication and deletion in a severe hemophilia A patient from Southern Italy. J Thromb Haemost 2013;11:195–7
  • Giordano S, Amato F, Elce A, et al. Molecular and functional analysis of the large 5’ promoter region of CFTR gene revealed pathogenic mutations in CF and CFTR-related disorders. J Mol Diagn 2013;15:331–40
  • Amato F, Seia M, Giordano S, et al. Gene mutation in MicroRNA target sites of CFTR gene: a novel pathogenetic mechanism in cystic fibrosis? PlosONE 2013;8:e60448
  • Maruotti GM, Frisso G, Calcagno G, et al. Prenatal diagnosis of inherited diseases: the 20 years experience of an Italian Regional Reference Centre. Clin Chem Lab Med 2013:1--7. doi 10.1515/cclm-2013-0194
  • Di Iorio E, Kaye SB, Ponzin D, et al. Limbal stem cell deficiency and ocular phenotype in Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome caused by p63 mutations. Ophthalmology 2012;119:74–83
  • Castaldo G, Cerbone AM, Guida A, et al. Molecular analysis and genotype-phenotype correlation in patients with antithrombin deficiency from Southern Italy. Thromb Haemost 2012;107:673–80
  • Castaldo G, Rippa E, Salvatore D, et al. Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation. Am J Med Genet 1997;69:155–8
  • Castaldo G, Fuccio A, Salvatore D, et al. Liver expression in Cystic Fibrosis could be modulated by genetic factors different from the Cystic Fibrosis Transmembrane Regulator genotype. Am J Med Genet 2001;98:294–7
  • Tomaiuolo R, Degiorgio D, Coviello DA, et al. An MBL2 haplotype and ABCB4 variants modulate the risck of liver disease in cystic fibrosis patients: a multicentric study. Digest Liver Dis 2009;41:817–22
  • Scudiero O, Galdiero S, Cantisani M, et al. Novel synthetic, salt-resistant analogs of human beta-defensins 1 and 3 endowed with enhanced antimicrobial activity. Antimicrob Agents Chemother 2010;54:2312–22
  • Scudiero O, Nardone G, Omodei D, et al. A mannose-binding lectin defective haplotype is a risk factor for gastric cancer. Clin Chem 2006;52:1625–7
  • Tomaiuolo R, Ruocco A, Salapete C, et al. Activity of mannose-binding lectin (MBL) in centenarians. Aging Cell 2012;3:394–400
  • Taruscio D, Falbo V, Floridia G, et al. Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian project on standardisation and quality assurance. Clin Chem Lab Med 2004;42:915–21
  • Castaldo G, Calcagno G, Sibillo R, et al. Quantitative analysis of aldolase A mRNA in liver discriminates between hepatocellular carcinoma and cirrhosis. Clin Chem 2000;46:901–6
  • Garcés-Eisele J. Molecular biology strategies to detect residual disease. Hematology 2012;17:S66–8
  • Castaldo G, Tomaiuolo R, Sanduzzi A, et al. Carcinoembryonic antigen mRNA analysis detects micrometastatic cells in blood from lung cancer patients. Eur Respir J 2003;22:418–21
  • O’Brien MA, Costin BN, Miles MF. Using genome-wide expression profiling to define gene networks relevant to the study of complex traits: from RNA integrity to network topology. Int Rev Neurobiol 2012;104:91–133
  • Raspe E, Decraene C, Berx G. Gene expression profiling to dissect the complexity of cancer biology: pitfalls and promise. Semin Cancer Biol 2012;22:250–60
  • Hsu J, Smith JD. Genome-wide studies of gene expression relevant to coronary artery disease. Curr Opin Cardiol 2012;27:210–3
  • Wang X, Pattison JS, Su H. Posttranslational modification and quality control. Circ Res 2013;112:367–81
  • Zhang A, Sun H, Yan G, Wang X. Serum proteomics in biomedical research: a systematic overview. Appl Biochem Biotechnol 2013;170:774–86
  • Monteiro MS, Carvalho M, Bastos ML, Guedes de Pinho P. Metabolomics analysis for biomarker discovery: advances and challenges. Curr Med Chem 2013;20:257–71
  • Milne SB, Mathews TP, Myers DS, et al. Sum of the parts: mass spectrometry based metabolomics. Biochemistry 2013;52:3829--40
  • Lamouille S, Subramanyam D, Blelloch R, Derynck R. Regulation of epithelial-mesenchymal and mesenchymal-epithelial transitions by microRNAs. Curr Opin Cell Biol 2013;25:200–7
  • Sun AX, Crabtree GR, Yoo AS. MicroRNAs: regulators of neuronal fate. Curr Opin Cell Biol 2013;25:215–21
  • Mayr M, Zampetaki A, Willeit P, et al. MicroRNAs within the continuum of postgenomics biomarker discovery. Arterioscler Thromb Vasc Biol 2013;33:206–14
  • Baer C, Claus R, Plass C. Genome-wide epigenetic regulation of miRNAs in cancer. Cancer Res 2013;73:473–7
  • Pero R, Peluso S, Angrisano T, et al. Chromatin and DNA methylation dynamics of Helicobacter pylori-induced COX-2 activation. Int J Med Microbiol 2011;301:140–9
  • Zarrilli F, Angiolillo A, Castaldo G, et al. Brain derived neurotrophic factor (BDNF) genetic polymorphism (Val66Met) in suicide: a study of 512 cases. Am J Med Genet B Neuropsychiatr Genet 2009;150:599–600
  • Keller S, Sarchiapone M, Zagar T, et al. Increased BDNF promoter methylation in Wernicke’s area of suicide subjects. Arch Gen Psychiat 2010;67:1–11
  • Keller S, Sarchiapone M, Zarrilli F, et al. TrkB gene expression and DNA methylation state in Wernicke area does not associate with suicidal behavior. J Affected Disord 2011;135:400–4

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