1. Handyside AH, Pattinson JK, Penketh RJ, Delhanty JD, Winston RM, Tuddenham EG. Biopsy of human preimplantation embryos and sexing by DNA amplification. The Lancet 1989; 1(8634): 347-349.
2. Kanavakis E, Traeger-Synodinos J. Preimplantation genetic diagnosis in clinical practice. J Med Genet 2002; 39(1): 6-11.
3. Palmer GA, Traeger-Synodinos J, Davies S, Tzetis M, Vrettou C, Mastrominas M, Kanavakis E. Pregnancies following blastocyst stage transfer in PGD cycles at risk for b-thalassemic hemoglobinopathies. Hum Reprod 2002; 17(1): 25-31.
4. Harper JC, Delhanty JDA. Preimplantation genetic diagnosis. Curr Opin Obstetr Gynecol 2000; 12(2): 67-72.
5. Kanavakis E, Traeger-Synodinos J, Vrettou C, Maragoudaki E, Tzetis M, Kattamis C. Prenatal diagnosis of the thalassemia syndromes by rapid DNA analytical methods. Mol Hum Reprod 1997; 3(6): 523-528.
6. Loukopoulos D. Current status of thalassemia and the sickle cell syndromes in Greece. Semin Hematol 1996; 33(1): 76-86.
7. Kanavakis E, Efthymiadou A, Strofalis S, Doudounakis S, Traeger-Synodinos J, Tzetis M. Cystic Fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals. Clin Genet 2003; 63(5): 400-409.
8. Pembrey ME. In the light of preimplantation genetic diagnosis: some ethical issues in medical genetics revisited. Eur J Hum Genet 1998; 6(1): 4-11.
9. Wells D, Sherlock JK. Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification. Prenat Diagn 1998; 18(13): 1389-1401.
10. Weatherall DJ.. Single gene disorders or complex traits: lessons from thalassaemia and other monogenic diseases. Br Med J 2000; 321(7269): 1117-1120.
11. Holding C, Monk M. Diagnosis of b-thalassaemia by DNA amplification in single blastomeres from mouse preimplantation embryos. The Lancet 1989; 2(8662): 532-535.
12. Ray, PF, Kaeda JS, Bingham J, Roberts I, Handyside AH. Preimplantation genetic diagnosis of b-thalassaemia major. The Lancet 1996; 347(9016): 1696.
13. Kuliev A, Rechitsky S, Verlinsky O, Ivakhnenko V, Eviskov S, Wolf G, Angastiniotis M, Georghiou D, Kukharenko V, Strom C, Verlinsky Y. Preimplanation diagnosis of thalassemias. J Assis Reprod Genet 1998; 15(5): 219-225.
14. de Rycke M, van de Velde H, Sermon K, Lissens W, de Vos A, vandervorst M, Vanderfaeillie A, van Steirteghem A, Liebaers I. Preimplantation genetic diagnosis for sickle-cell anemia and for b-thalassemia. Prenat Diagn 2001; 21(3): 214-222.
15. El-Hashemite N, Wells D, Delhanty JDA. Single-cell detection of b-thalassemia mutations using silver-stained SSCP analysis: an application for preimplantation diagnosis. Mol Hum Reprod 1997; 3(8): 693-698.
16. Piyamongkol W, Harper JC, Delhanty JDA, Wells D. Preimplantation genetic diagnosis protocols for a- and b-thalassemias using multiplex fluorescent PCR. Prenat Diagn 2001; 21(9): 753-759.
17. Vrettou C, Palmer G, Kanavakis E, Tzetis M, Antoniadi T, Mastrominas M, Traeger-Synodinos J. A widely applicable strategy for single cell genotyping of b-thalassemia mutations using DGGE analysis: application to preimplantation genetic diagnosis. Prenat Diagn 1999; 19(13): 1209-1216.
18. Kanavakis E, Vrettou C, Palmer G, Tzetis M, Mastrominas M, Traeger-Synodinos J. Preimplantation genetic diagnosis in 10 couples at risk for transmitting b-thalassemia major: clinical experience including the initiation of six singleton pregnancies. Prenat Diagn 1999; 19(13): 1217-1222.
19. Traeger-Synodinos, Vrettou C, Palmer G, Tzetis M, Mastrominas M, Davies S, Kanavakis E. An evaluation of preimplantation genetic diagnosis in clinical genetic services through three years application for prevention of b-thalassemia major and sickle cell thalassaemia. Mol Hum Reprod 2003; 9(5): 301-307.
20. Vrettou C, Traeger-Synodinos J, Tzetis M, Malamis G, Kanavakis E. Rapid screening of multiple b-globin gene mutations by real time PCR (LightCyclerÔ): application to carrier screening and prenatal diagnosis for thalassemia syndromes. Clin Chem 2003; 49(5): 769-776.
21. Vrettou C, Traeger-Synodinos J, Tzetis M, Palmer G, Sofocleous C, Kanavakis E. Real-time PCR for single cell genotyping in sickle-cell and thalassemia syndromes as a rapid, accurate, reliable and widely applicable protocol for preimplantation genetic diagnosis. Hum Mutat 2004; in press.
22. Zielenski J, Rozmahel R, Bozon D, Kerem B-S, Grzelczak Z, Riordan JR, Rommens J, Tsui L-C. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 1991; 10(1): 214-222.
23. Kanavakis E, Tzetis M, Antoniadi Th, Pistofisis G, Milligos S, Kattamis C. Cystic fibrosis mutation screening in CBAVD patients and men with obstructive azoospermia or severe oligospermia. Mol Hum Reprod 1998; 4(4): 333-337.
24. Kerem E, Rommens J, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC. Identification of the cystic fibrosis gene: genetic analysis. Science 1989; 245(4922): 1073-1080.
25. Chevalier-Porst F, Bonardot AM, Gilly R, Chazalette JP, Mathieu M, Bozon D. Mutation analysis in 600 French cystic fibrosis patients. J Med Genet 1994; 31(7): 541-544.
26. Chillon M, Casals T, Gimenez J, Ramos MD, Palacio A, Morral N, Estivill X, Nunes V. Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes. Hum Genet 1994; 93(4): 447-51.
27. Liu J, Lissens W, Devroey P, van Steirteghem A, Liebaers I. Polymerase chain reaction analysis of the cystic fibrosis DF508 mutation in human blastomeres following oocyte injection of a single sperm from a carrier. Prenat Diagn 1993; 13(9): 873-880.
28. Ao A, Ray P, Harper J, Lesko J, Paraschos T, Atkinson G, Soussis I, Taylor D, Handyside A, Hughes M, Winston RML. Clinical experience with preimplantation genetic diagnosis of cystic fibrosis (DF508). Prenat Diagn 1996; 16(2): 137-142.
29. Schaaff F, Wedemann H, Schwinger, E. Analysis of sex and DF508 in single amniocytes using primer extension preamplification. Hum Genet 1996; 98(2): 158-161.
30. Scobie G, Woodroffe B, Fishel S, Kalsheker N. Identification of the five most common cystic fibrosis mutations in single cells using a rapid and specific differential amplification system. Mol Hum Reprod 1996; 2(3): 203-207.
31. Tsai YH. Cost-effective one-step PCR amplification of cystic fibrosis DF508 fragment in a single cell for preimplantation genetic diagnosis. Prenat Diagn 1999; 19(11): 1048-1051.
32. Goossens V, Sermon K, Lissens W, Vandervorst M, Vanderfaeillie A, de Rijcke M, de Vos A, Henderix P, van de Velde H, van Steirteghem A, Liebaers I. Clinical application of preimplantation genetic diagnosis for cystic fibrosis. Prenat Diagn 2000; 20(7): 571-581.
33. Dreesen JCFM, Jacobs LJAM, Bras M, Herbergs J, Dumoulin JCM, Geraedts JPM, Evers JLH, Smeets HJM. Multiplex PCR of polymorphic markers flanking the CFTR gene; a general approach for preimplantation genetic diagnosis of cystic fibrosis. Mol Hum Reprod 2000; 6(5): 391-396.
34. Eftedal I, Schwartz M, Bendtsen H, Andersen AN, Ziebe S. Single intragenic microsatellite preimplantation genetic diagnosis for cystic fibrosis provides positive allele identification of all CFTR genotypes for informative couples. Mol Hum Reprod 2001; 7(3): 307-312.
35. Vrettou C, Tzetis M, Traeger-Synodinos J, Palmer G, Kanavakis E. Multiplex sequence variation detection throughout the CFTR gene appropriate for preimplantation genetic diagnosis in populations with heterogeneity of cystic fibrosis mutations. Mol Hum Reprod, 2002; 8(9): 880-886.
36. Lewis CM, Pinel T, Whittaker JC, Handyside AH. Controlling misdiagnosis errors in preimplantation genetic diagnosis: a comprehensive model encompassing extrinsic and intrinsic sources of error. Hum Reprod 2001; 16(1): 43-50.
37. ESHRE PGD Consortium Steering Committee. ESHRE Preimplantation Genetic Diagnosis (PGD) Consortium: data collection III, May 2001. Hum Reprod 2002; 17(1): 233-246.