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QF-PCR – Referenze

  • Adinolfi M, Pertl, B and Sherlock, J (1997) Rapid detection of aneuploidies by microsatellite and the quantitative fluorescent polymerase chain reaction. Prenat Diagn. 17: 1299-311
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  • Adinolfi M, Sherlock J, Cirigliano V, Pertl B (2000) Prenatal screening of aneuploidies by quantitative fluorescent PCR.
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  • Adinolfi M, Sherlock J (2001) Prenatal detection of chromosome disorders by QF-PCR. Lancet. 358(9287):1030-1
  • Cirigliano V, Sherlock J, Conway G, Quilter C, Rodeck C, Adinolfi M. (1999) Rapid detection of chromosomes X and Y aneuploidies by quantitative fluorescent PCR. Prenat Diagn. 19(12):1099-103.
  • Cirigliano V, Lewin P, Szpiro-Tapies S, Fuster C, Adinolfi M. (2001) Assessment of new markers for the rapid detection of aneuploidies by quantitative fluorescent PCR (QF-PCR). Ann Hum Genet. 65:421-7.
  • Cirigliano V, Ejarque M, Canadas MP, Lloveras E, Plaja A, Perez MM, Fuster C, Egozcue J. (2001) Clinical application of multiplex quantitative fluorescent polymerase chain reaction (QF-PCR) for the rapid prenatal detection of common chromosome aneuploidies. Mol Hum Reprod. 7(10):1001-6.
  • Cirigliano V, Ejarque M, Fuster C, Adinolfi M. (2002) X chromosome dosage by quantitative fluorescent PCR and rapid prenatal diagnosis of sex chromosome aneuploidies. Mol Hum Reprod. 8(11):1042-5. Ann N.Y. Acad. Sci. 1075: 288-298.
  • Donaghue C, Roberts A, Mann K, Ogilvie CM. (2003) Development and targeted application of a rapid QF-PCR test for sex chromosome imbalance. Prenat Diagn. 23(3):201-10.
  • Donaghue C, Mann K, Docherty Z, Ogilvie CM (2005) Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis. Prenat Diagn. 25(1):65-72.
  • Grimshaw GM, Szczepura A, Hultén M, MacDonald F, Nevin NC, Sutton F, Dhanjal S (2003) Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities. Health Technology Assessment 7 (10): 1-146
  • Hultén MA, Dhanjal S, Pertl B. (2003) Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR. Review. Reproduction. 126(3):279-97.
  • Levett LJ, Liddle S, Meredith RA (2001) Large-scale evaluation of amnio-PCR for the rapid prenatal diagnosis of fetal trisomy. Ultrasound Obstet Gynecol. 17(2):115-8.
  • Mann K, Fox SP, Abbs SJ, Yau SC, Scriven PN, Docherty Z, Ogilvie CM. (2001) Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis. Lancet. 358(9287):1057-61.
  • Mann K, Ogilvie C, Donaghue C, Mountford R, Mcanulty C, Warner J, Dunlop N, Levett L, Hardy C, McConnell C, Diack J, McKay F (2005) QF-PCR for the diagnosis of aneuploidy ACC Best Practice Guidelines
  • Mansfield, ES. Diagnosis of Down Syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms. Hum Mol Genet 1993; 2, 43-50
  • Pertl B, Yau SC, Sherlock J, Davies AF, Mathew CG, Adinolfi M. (1994) Rapid molecular method for prenatal detection of Down’s syndrome. Lancet. 343(8907):1197-8.
  • Pertl B, Weitgasser U, Kopp S, Kroisel PM, Sherlock J, Adinolfi M. (1996) Rapid detection of trisomies 21 and 18 and sexing by quantitative fluorescent multiplex PCR. Hum Genet. 98(1):55-9.
  • Pertl B, Pieber D, Lercher-Hartlieb A, Orescovic I, Haeusler M, Winter R, Kroisel P, Adinolfi M (1999) Rapid prenatal diagnosis of aneuploidy by quantitative fluorescent PCR on fetal samples from mothers at high risk for chromosome disorders. Mol Hum Reprod. 5(12):1176-9.
  • Pertl B, Kopp S, Kroisel PM, Tului L, Brambati B, Adinolfi M. (1999) Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR: first application on 247 chorionic villus samples. J Med Genet. 36(4):300-3.
  • Santos FR, Pandya A, Tyler-Smith C. (1998) Reliability of DNA-based sex tests. Nat Genet; 18(2):103
  • Schmidt W, Jenderny J, Hecher K, Hackeloer BJ, Kerber S, Kochhan L, Held KR. (2000) Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF-PCR in 662 selected pregnancies at risk. Mol Hum Reprod. (9):855-60.
  • Voglino G, Marongiu A, Massobrio M, Campogrande M, Todros T (2002) Rapid prenatal diagnosis of aneuploidies. (letter) Lancet. 359(9304):442.
  • Shadrach B, Commane M, Hren C, Warshawsky I (2004) A rare mutation in the primer binding region of the amelogenin gene can interfere with gender identification. J Mol Diagn. (4):401-5.
  • Sherlock J, Cirigliano V, Petrou M, Tutschek B, Adinolfi M. (1998) Assessment of diagnostic quantitative fluorescent multiplex polymerase chain reaction assays performed on single cells. Ann Hum Genet. 62 ( Pt 1):9-23.
  • Steinlechner M, Berger B, Niederstatter H, Parson W (2002) Rare failures in the amelogenin sex test. Int J Legal Med. 116(2):117-20.
  • Cirigliano V, Canadas P, Plaja A, Ordonez E, Mediano C, Sanchez A, Farran I. (2003) Rapid prenatal diagnosis of aneuploidies and zygosity in multiple pregnancies by amniocentesis with single insertion of the needle and quantitative fluorescent PCR. Prenat Diagn. 23(8):629-33.
  • Cirigliano V, Voglino G, Canadas MP, Marongiu A, Ejarque M, Ordonez E, Plaja A, Massobrio M, Todros T, Fuster C, Campogrande M, Egozcue J, Adinolfi M. (2004) Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18,000 consecutive clinical samples. Mol Hum Reprod. 10(11):839-46.
  • Cirigliano V, Voglino G, Adinolfi M. (2005) Non invasive screening and rapid QF-PCR assay can greatly reduce the need of cytogenetic analysis in prenatal diagnosis. Reprod Biomed Online. 11(6): 671–673
  • Cirigliano V, Voglino G, Marongiu A, Canadas MP, Ordonez E, Lloveras E, Plaja A, Fuster C, Adinolfi M. (2006) Rapid prenatal diagnosis by QF-PCR: evaluation of 30,000 consecutive clinical samples and future applications. A Ann. N.Y. Acad. Sci. 1076:288-298.