Submissions to FINDbase:
Data was compiled from the following submissions:

1. Taghizadeh F, Hosseini Amini SS, Teimourian S, Karimi-Nejad R, Shafeghati Y, Karimi-Nejad MH, Najmabadi H. CGG Repeats Analysis of the FMR1 Gene in Mental Retarded Individuals with Clinical Symptoms of the FragileX syndrome in Iranian Population. Proc. 10th Meeting of the International Society of Human Genetics, Vienna, Austria, P0637.
2. Ristanovic M. Bunjevacki V, Tulic C, Radunovic N, Vasiljevic M, Nikolic A. unpublished data 2006
3. Patsalis PC, Sismani C, Hettinger JA, Boumba I, Georgiou I, Stylianidou G, Anastasiadou V, Koukoulli R, Pagoulatos G, Syrrou M. Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stability. Am J Med Genet. 1999 May 28;84(3):184-90.
4. Antoniadi T, Hatzis T, Kroupis C, Economou-Petersen E, Petersen MB. Prevalence of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations in a Greek population of blood donors. Am J Hematol. 1999 Aug;61(4):265-7.
5. Xenophontos SL, Pierides A, Demetriou K, Avraamides P, Manoli P, Ayrton N, Skordis N, Anastasiadou V, Miltiadous G, Cariolou MA. Geographical clustering of low density lipoprotein receptor gene mutations (C292X; Q363X; D365E & C660X) in Cyprus. Hum Mutat. 2000 Apr;15(4):380.
6. Delague V, Souraty N, Khallouf E, Tardy V, Chouery E, Halaby G, Loiselet J, Morel Y, Megarbane A. Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase. Horm Res. 2000;53(2):77-82.
7. Drousiotou A, Stylianidou G, Anastasiadou V, Christopoulos G, Mavrikiou E, Georgiou T, Kalakoutis G, Oladimeji A, Hara Y, Suzuki K, Furihata K, Ueno I, Ioannou PA, Fensom AH. Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community. Hum Genet. 2000 Jul;107(1):12-7.
8. Kavazarakis E, Tsezou A, Tzetis M, Hadjidimoula A, Kitsiou S, Kanavakis E, Karpathios T. Gilbert syndrome: analysis of the promoter region of the uridine diphosphate-glucuronosyltransferase 1 gene in the Greek population. Eur J Pediatr. 2000 Nov;159(11):873-4.
9. Mansour I, Delague V, Cazeneuve C, Dode C, Chouery E, Pecheux C, Medlej-Hashim M, Salem N, El Zein L, Levan-Petit I, Lefranc G, Goossens M, Delpech M, Amselem S, Loiselet J, Grateau G, Megarbane A, Naman R. Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations. Eur J Hum Genet. 2001 Jan;9(1):51-5.
10. Loudianos G, Lovicu M, Solinas P, Kanavakis E, Tzetis M, Manolaki N, Panagiotakaki E, Karpathios T, Cao A. Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations. Genet Test. 2000;4(4):399-402.
11. Dracopoulou-Vabouli M, Maniati-Christidi M, Dacou-Voutetakis C. The spectrum of molecular defects of the CYP21 gene in the Hellenic population: variable concordance between genotype and phenotype in the different forms of congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2001 Jun;86(6):2845-8.
12. Mustapha M, Salem N, Delague V, Chouery E, Ghassibeh M, Rai M, Loiselet J, Petit C, Megarbane A. Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene. J Med Genet. 2001 Oct;38(10):E36.
13. Najmabadi H, Cucci RA, Sahebjam S, Kouchakian N, Farhadi M, Kahrizi K, Arzhangi S, Daneshmandan N, Javan K, Smith RJ. GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss. Hum Mutat. 2002 May;19(5):572.
14. Bobadilla JL, Macek M Jr, Fine JP, Farrell PM. Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening. Hum Mutat. 2002 Jun;19(6):575-606.
15. Mesbah-Namin SA, Sanati MH, Mowjoodi A, Mason PJ, Vulliamy TJ, Noori-Daloii MR. Three major glucose-6-phosphate dehydrogenase-deficient polymorphic variants identified in Mazandaran state of Iran. Br J Haematol. 2002 Jun;117(3):763-4.
16. Ioulianos A, Sismani C, Fourouclas N, Patroclou T, Sergiou C, Patsalis PC. A nation-based population screening for azoospermia factor deletions in Greek-Cypriot patients with severe spermatogenic failure and normal fertile controls, using a specific study and experimental design. Int J Androl. 2002 Jun;25(3):153-8.
17. Pampanos A, Economides J, Iliadou V, Neou P, Leotsakos P, Voyiatzis N, Eleftheriades N, Tsakanikos M, Antoniadi T, Hatzaki A, Konstantopoulou I, Yannoukakos D, Gronskov K, Brondum-Nielsen K, Grigoriadou M, Gyftodimou J, Iliades T, Skevas A, Petersen MB. Prevalence of GJB2 mutations in prelingual deafness in the Greek population. Int J Pediatr Otorhinolaryngol. 2002 Sep 2;65(2):101-8.
18. Deltas CC, Mean R, Rossou E, Costi C, Koupepidou P, Hadjiyanni I, Hadjiroussos V, Petrou P, Pierides A, Lamnisou K, Koptides M. Familial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus. Genet Test. 2002 Spring;6(1):15-21.
19. de Serres FJ. Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys. Chest. 2002 Nov;122(5):1818-29.
20. Konstantopoulos K, Kanta A, Deltas C, Atamian V, Mavrogianni D, Tzioufas AG, Kollainis I, Ritis K, Moutsopoulos HM. Familial Mediterranean fever associated pyrin mutations in Greece. Ann Rheum Dis. 2003 May;62(5):479-81.
21. Menounos PG, Garinis GA, Patrinos GP. Glucose-6-phosphate dehydrogenase deficiency does not result from mutations in the promoter region of the G6PD gene. J Clin Lab Anal. 2003;17(3):90-2.
22. Papazoglou D, Exiara T, Speletas M, Panagopoulos I, Maltezos E. Prevalence of hemochromatosis gene (HFE) mutations in Greece. Acta Haematol. 2003;109(3):137-40.
23. Dedoussis GV, Genschel J, Bochow B, Pitsavos C, Skoumas J, Prassa M, Lkhagvasuren S, Toutouzas P, Vogt A, Kassner U, Thomas HP, Schmidt H. Molecular characterization of familial hypercholesterolemia in German and Greek patients. Hum Mutat. 2004 Mar;23(3):285-6.
24. Patsalis PC, Evangelidou P, Charalambous S, Sismani C. Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity. Eur J Hum Genet. 2004 Aug;12(8):647-53.
25. Drousiotou A, Touma EH, Andreou N, Loiselet J, Angastiniotis M, Verrelli BC, Tishkoff SA. Molecular characterization of G6PD deficiency in Cyprus. Blood Cells Mol Dis. 2004 Jul-Aug;33(1):25-30.
26. Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis. Erratum in: Hum Mutat. 2004 Dec;24(6):536-7. Hum Mutat. 2004 Oct;24(4):352.
27. Karimi M, Yavarian M, Delbini P, Harteveld CL, Farjadian S, Fiorelli G, Giordano PC. Spectrum and haplotypes of the HFE hemochromatosis gene in Iran: H63D in beta-thalassemia major and the first E277K homozygous. Hematol J. 2004;5(6):524-7.
28. Zahed L, Zahreddine H, Noureddine B, Rebeiz N, Shakar N, Zalloua P, Haddad F. Molecular basis of oculocutaneous albinism type 1 in Lebanese patients. J Hum Genet. 2005;50(6):317-9. Epub 2005 Jun 4.
29. Chatzikyriakidou A, Yapijakis C, Sofikitis N, Vassilopoulos D, Georgiou I. Real-time PCR analysis of trinucleotide repeat allele expansions in the androgen receptor gene. Mol Diagn. 2005;9(4):217-9.
30. Najmabadi H, Huang V, Yen P, Subbarao MN, Bhasin D, Banaag L, Naseeruddin S, de Kretser DM, Baker HW, McLachlan RI, et al. Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged site-based mapping strategy. J Clin Endocrinol Metab. 1996 Apr;81(4):1347-52.
31. Sklavounou E, Economou-Petersen E, Karadima G, Panas M, Avramopoulos D, Varsou A, Vassilopoulos D, Petersen MB. Apolipoprotein E polymorphism in the Greek population. Clin Genet. 1997 Oct;52(4):216-8.
32. Christodoulou K personal communication 2006
33. Drousiotou A personal communication 2006
34. Hemoglobinopathies
35. Najmabadi H personal communication
36. Patsalis personal communication 2006
37. Phenylketonuria