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Letteratura Scientifica

"IN COSTRUZIONE"

Pubblicazioni scientifiche relative al CEQ ISS dei test genetici

  • de Stefano MC, et al. The Italian National External Quality Assessment Program in Cytogenetics: 4 years of activity (2013-2016) following the introduction of poor performance criteria. Ann Ist. Superiore di Sanità 2018. Vol 54. (2): 109-116

  • Censi F, et al. The Italian National External quality assessment program in molecular genetic testing: results of the VII round (2010-2011). Biomed Res Int. 2013;2013:739010

  • Censi F, et al. The Italian external quality control program for familial adenomatous polyposis of the colon: five years of experience. Genet Test Mol Biomarkers. 2010 Apr;14(2):175-81

  • Tosto F, et al. The Italian scheme of External Quality Assessment for beta-thalassemia: genotyping and reporting results and testing strategies in a 5-year survey. Genet Test Mol Biomarkers. 2009 Feb;13(1):31-6

  • Falbo V, et al. The Italian External Quality Assessment scheme for fragile x syndrome: the results of a 5-year survey. Genet Test. 2008 Jun;12(2):279-88

  • Floridia G, et al. The Italian external quality assessment scheme in classical cytogenetics: four years of activity. Community Genet. 2008;11(5):295-303

  • Salvatore M, et al. The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 years of activity. Clin Chem Lab Med. 2007;45(2):254-60.

  • Taruscio D, 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(8):915-21.

Letteratura scientifica  e documenti di riferimento per gli schemi proposti (in lavorazione):

  • Claustres  M, et al. Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic). European Journal of Human Genetics (2014) 22, 160–170.

  • Biancalana V, et al. EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders. European Journal of Human Genetics (2014), 1–9 (vedi anche European Journal of Human Genetics (2015) 23, 417–425))

  • Analisi genetica in Fibrosi Cistica – Consensus 2019 (rev. 1.0 – 21 Dicembre 2019) A cura della Società Italiana per lo studio della Fibrosi Cistica. www.sifc.it

  • Berwouts S, et al. Mutation Nomenclature in Practice: Findings and Recommendations from the Cystic Fibrosis External Quality Assessment Scheme. Human Mutation, Vol. 32, No. 11, 1197–1203, 2011

  • Castellani C, et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. Journal of Cystic Fibrosis 7 (2008) 179–196

  • Dequeker E, et al. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations. European Journal of Human Genetics (2008), 1–15

  • Traeger-Synodinos J, et al. EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies. European Journal of Human Genetics (2014), 1–12

  • Genuardi M, et al.  L’interpretazione delle variant di sequenza in geni di predisposizione a tumori: indicazioni operative per il laboratorio diagnostico. SIGU. 10 febbraio 2016

  • Richards S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetic in Medicine (2015), (17):405-424

  • Plon SE, et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat. 2008 November ; 29(11): 1282–1291

  • Eccles BK, et al. Understanding of BRCA VUS genetic results by breast cancer specialists. BMC Cancer (2015) 15:936

  • Rack KA, et al. European recommendations and quality assurance for cytogenomic analysis of  haematological neoplasms. Leukemia (2019) 33:1851–1867

  • Hastings RJ, et al. Guidelines for cytogenetic investigations in tumours. European Journal of Human Genetics (2016) 24, 6–13

  • Guidelines and Quality Assurance for Acquired Cytogenetics. E.C.A. - European Cytogeneticists association Newletter No. 31 January 2013

  • Schoumans J, et al. Guidelines for Genomic Array Analysis in Acquired Haematological Neoplastic Disorders. Gene Chromosomes Cancer 55:480–491 (2016)

  • Swerdlow SH, WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. WHO 2017

  • Linee Guida per la diagnosi citogenetica 2013. A cura del gruppo di Citogenetica SIGU (vedi anche note operative) www.sigu.net

  • Silva M, et al. European guidelines for constitutional cytogenomic analysis. European Journal of Human Genetics (2019) 27:1–16