Selected Publications

1. Bashiardes S, Kousoulidou L, van Bokhoven H, Ropers HH, Chelly J, Moraine C, de Brouwer AP, Van Esch H, Froyen G, Patsalis PC. A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders. J Mol Diagn. 2009 Nov;11(6):562-8.

2. Liehr T, Stumm M, Wegner RD, Bhatt S, Hickmann P, Patsalis PC, Meins M, Morlot S, Klaschka V, Ewers E, Hinreiner S, Mrasek K, Kosyakova N, Cai WW, Cheung SW, Weise A. 10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences. Cytogenet Genome Res. 2009;124(1):102-5.

3. Papageorgiou EA, Fiegler H, Rakyan V, Beck S, Hulten M, Lamnissou K, Carter NP, Patsalis PC. Sites of differential DNA methylation between placenta and peripheral blood: molecular markers for noninvasive prenatal diagnosis of aneuploidies. Am J Pathol. 2009 May;174(5):1609-18.

4. Sismani C, Kitsiou-Tzeli S, Ioannides M, Christodoulou C, Anastasiadou V, Stylianidou G, Papadopoulou E, Kanavakis E, Kosmaidou-Aravidou Z, Patsalis PC. Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype. Mol Cytogenet. 2008 Jul 21;1(1):15.

5. Kitsiou-Tzeli S, Sismani C, Karkaletsi M, Florentin L, Anastassiou A, Koumbaris G, Evangelidou P, Agapitos E, Patsalis PC, Velissariou V. Prenatal diagnosis of a de novo partial trisomy 10p12.1-12.2 pter originating from an unbalanced translocation onto 15qter and confirmed with array CGH. Prenat Diagn. 2008 Jul 9;28(8):770-772.

6. Zahed L, Sismani C, Ioannides M, Saleh M, Koumbaris G, Kenj M, Abdallah A, Ayyache M, Patsalis PC. Molecular and clinical description of a girl with a 46,X,t(Y;4)(q11.2;p16)/45,X,der(4)t(Y;4)(q11.2;p16) karyotype and a small cryptic 4p subtelomeric deletion. Am J Med Genet A. 2008 Apr 1;146(7):893-8.

7. Kousoulidou L, Männik K, Zilina O, Parkel S, Palta P, Remm M, Kurg A, Patsalis PC. Application of two different microarray-based copy-number detection methodologies - array-comparative genomic hybridization and array-multiplex amplifiable probe hybridization - with identical amplifiable target sequences. Clin Chem Lab Med. 2008;46(5):722-4.

8. Kitsiou-Tzeli S, Sismani C, Koumbaris G, Ioannides M, Kanavakis E, Kolialexi A, Mavrou A, Touliatou V, Patsalis PC. Distal del(4) (q33) syndrome: detailed clinical presentation and molecular description with array-CGH. Eur J Med Genet. 2008 Jan-Feb;51(1):61-7.

9. Kousoulidou L, Männik K, Sismani C, Žilina O, Parkel S, Puusepp H, Tõnisson N, Palta P, Remm M, Kurg A and Patsalis PC. Array-MAPH: a methodology for the detection of locus copy-number changes in complex genomes. Nat Protoc. 2008;3(5):849-65.

10. Bashiardes S, Kousoulidou L, Van Bokhoven H, Ropers HH, Chelly J, Moraine C, De Brouwer APM, Van Esch H, Froyen G and Patsalis PC.  Development and validation of the chromosome X exon-specific array. Submitted to BMC Medical Genomics, 2008.

11. Sismani C, Anastasiadou V, Parkel S, Kousoulidou L, Zilina O, Bashiardes S, Spanou E, Kurg A and Patsalis PC. A familiar duplication of Xp22.2-22.13 analyzed with high resolution X chromosome specific array-MAPH methodology. On manuscript for Am J Med Genet, 2008.

12. Sismani C, Kousoulidou L and Patsalis PC.  Multiplex Amplifiable Probe Hybridization. Molecular Biomethods Handbook, 2nd Edition, chapter 13. Also appears in Nucleic Acid Methods. Invited by the Editor, 2008.

13. Patsalis PC, Kousoulidou L, Männik K, Sismani C, Žilina O, Parkel S, Puusepp H, Tõnisson N, Palta P, Remm M, Kurg A. Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization. European Journal of Human Genetics Feb; 15:162-172, 2007.

14. Patsalis PC. Complex Chromosomal Rearrangements. Genetic Counseling, 18: (1) 57-69, 2007.

15. Kitsiou-Tzeli S, Sismani C, Ioannides M, Bashiardes S, Ketoni A, Touliatou V, Kolialexi A, Mavrou A, Kanavakis E and Patsalis PC. Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion. Eur J Med Genet, Jan-Feb; 50(1):73-78, 2007.

16. Hastings RJ, Bricarelli FD, Patsalis PC, Cavani S, Kristofferson U. Cytogenetic Guidelines and Quality Assurance – A common European framework for quality assessment for constitutional and acquired cytogenetic investigations. European Journal of Human Genetics, 15(5):525-527, 2007.

17. Tzoufi M, Kanioglou C, Dasoula A, Asproudis I, Tsatsoulis A, Sismani C, Patsalis PC, Georgiou I, Syrrou M. Mosaic trisomy r(14) associated with epilepsy and mental retardation. J Child Neurolology. Jul;22(7):869-73, 2007.

18. Vermeesch JR, Fiegler H, de Leeuw N, Szuhai K, Schoumans J, Ciccone R, Speleman F, Rauch A, Clayton-Smith J, Van Ravenswaaij C, Sanlaville D, Patsalis PC, Firth H, Devriendt K, Zuffardi O. Guidelines for molecular karyotyping in constitutional genetic diagnosis. Eur J Hum Genet. Nov;15(11):1105-14, 2007.

19. Velissariou V, Sismani C, Christopoulou S, Kaminopetros P, Hatzaki A, Evangelidou P, Koumbaris G, Bartsocas CS, Stylianidou G, Skordis N, Diakoumakos A and Patsalis PC. Loss of the Y chromosome PAR2 region and additional rearrangements in two familial cases of satellited Y chromosomes: cytogenetic and molecular analysis. Eur J Med Genet. Jul-Aug;50(4):291-300, 2007.

20. Kousoulidou L, Parkel S, Zilina O, Palta P, Puusepp H, Remm M, Turner G, Boyle J, van Bokhoven H, de Brouwer A, Van Esch H, Froyen G, Ropers HH, Chelly J, Moraine C, Gecz J, Kurg A and Patsalis PC. Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH. Eur J Med Genet. 50(6):339-410, 2007

21. Bashiardes S, Salame N, Patsalis PC. Evaluation of whole genome amplification using multiple displacement amplification on a limited number of cells. Clinical Chemistry and Laboratory Medicine, 44(9):1158-1160, 2006.

22. Kleanthous M, Patsalis PC, Drousiotou A, Motazacker M, Christodoulou K, Cariolou M, Baysal E, Khrizi K, Moghimi B, Pourfarzad F, van Baal S, Deltas C, Najmabadii H, Patrinos GP. The Cypriot and Iranian National Mutation databases. Human Mutation, 27(6):598-9, 2006.

23. Patsalis PC. “Y-chromosome Microdeletions in 45,X/46,XY Patients”. Am J Med Genet A, Jun 1;140(11):1251-2, 2006.

24. Bricarelli FD, Kristofferson U, Hastings RJ, Cavani S (European Cytogenetic Association Permanent Working Group for Cytogenetics and Society) with contribution from Patsalis PC. European Cytogenetics Association Guidelines and Quality Assurance. European Cytogenetics Association Newsletter 17:13-32, 2006.

25. Patsalis PC, Kousoulidou L, Sismani C, Männik K, Kurg A. MAPH: From gels to microarrays. Eur J Med Genet 48:241-249, 2005.

26. Patsalis PC, et al. Identification of high frequency of Y chromosome deletions and correlation with the clinical phenotype and Y chromosome instability. Am J Med Genet, 135A:145-149, 2005.

27. Hadjiathanasiou CH, Skordis N, Sismani C, Kousoulidou L, Koumbaris G, Eftychi C, Stavrides G, Ioulianos A, Kitsiou-Tzeli S, Gala-Voumbouraki A, Kosmaidou Z, Kostantopoulos A and Patsalis PC. High frequency of Y chromosome deletions in patients with sex chromosome mosaicism: A putative mechanism of sex chromosome aneuploides. Pediatric, 68:245-256, 2005.

28. Patsalis PC, Skordis N, Sismani C, Kousoulidou L, Koumbaris G, Eftychi C, Stavrides G, Ioulianos A, Kitsiou-Tzeli S, Galla-Voumvouraki A, Kosmaidou Z, Hadjiathanasiou CG, McElreavey K. Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability. Am J Med Genet, 135A:145-149, 2005.

29. Skordis N, Lumbroso S, Perikleous M, Sismani C, Patsalis PC, Sultan C. Complete androgen insensitivity syndrome caused by the R855H mutation in the androgen receptor gene. J Pediatr Endocrinol Metab, Mar;18(3):309-13, 2005.

30. Skordis N, Patsalis PC, Bacopoulou I, Sismani C, Sultan C, Lumbroso S. 5alpha-reductase 2 gene mutations in three unrelated patients of Greek Cypriot origin: identification of an ancestral founder effect. J Pediatr Endocrinol Metab, Mar;18(3):241-6, 2005.

31. Patsalis PC. Conference Report of the 11th International workshop on fragile X and X-linked mental retardation. Genetic Counseling 15: (2) 239-240, 2004.

32. 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, 12(8):647-653, 2004. 

33. Augustidou-Savopoullou P, Karamberis S, Karida S, Xadjichrysanthou C, Aivazis B, Hadjisevastou C, Drousiotou A, Patsalis PC, Sewell B, Andersen B, Vianey-Savan C, Millington D. Reverse Cardiomyopathy in a child with β-oxidase fatty acid poly-heavey chain. New Pediatric Proceedings 3, 4: 293-298, 2003.

34. Patrikios I, Patsalis PC. Monounsaturated fatty acid oligomerization is responsible for the agglutination activity of heated virgin olive oil. Food Research International 36(9-10):985-990, 2003

35. Sismani K, Syrrou M, Christodoulou K, Hamel B, Chelly J, Yntema H, van Bokhoven H, Georgiou Y and Patsalis PC. A gene for Nonsyndromic X-Linked Mental Retardation (MRX77) Maps to Xq12-Xq21.33. American Journal of Medical Genetics, 122A:46-50, 2003.

36. Patsalis PC, Sismani C, Quintana-Murci L, Taleb-Bekkouche F, Krausz C, McElreavey K. Effects of transmission of Y chromosome AZFc deletions. Lancet Oct. 19;360(9341):1222-1224, 2002.

37. Ioulianos A, Sismani C, Fourouclas N, Patroclou T, Sergiou C and 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. International Journal of Andrology, 25:153-158, 2002.

38. Sismani C, Armour JAL, Flint J, Girgalli C, Regan R and Patsalis PC. Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay, European Journal Human Genetics, 9:527-532, 2001.

39. Velissariou V, Antoniadi T, Patsalis PC, Christopoulou S, Hatzipouliou A, Donoghue J, Bakou K, Kaminopetros P, Athanasiou V, Petersen MB. Prenatal diagnosis of two rare de novo stractural aberrations of Y chromosome: Cytogenetic and molecular analysis. Prenatal Diagnosis, 21:484-487, 2001.

40. Sismani C, Armour JAL, Flint J and Patsalis PC. Measurement of locus copy number at the end of human chromosomes: The development and testing of the new MAPH telomeric assay. Proceedings of Quantitative Molecular Cytogenetics: 2:165-170, 2001.

41. Mavrogiannis LA, Argyrokastritis A, Tsitzikas N, Dermitzakis E, Safaridou T, Patsalis PC, Moschonas N. ZNF232: structure and expression analysis of a novel human C(2)H(2) zinc finger gene(1), member of the SCAN/LeR domain subfamily. Biochimica et Biophysica Acta, April 16;1518(3):300-305, 2001.

42. Rose N, Patsalis PC. Clinical Cytogenetics Services in Cyprus. European Cytogenetic Association News letter 8:8-9,2001

43. Rosser H Z, Patsalis PC, et al., (multi-center study). Y-chromosomal diversity within Europe is clinal and influenced by geography rather than language. 2000. American Journal Human Genetics, 67:1526-1543, 2000 and errata 68:1075, 2001.

44. Armour JAL, Sismani C, Patsalis PC, Cross G. Simple, high-resolution measurement of locus copy number in complex genomes, Nucleic Acid Research, 15;28(2):605-609, 2000.

45. Hadjiathanasiou C, Theodorides C, Tsezou A, Tsingos C, Gourgiotis D, Kavazarakis E, Kyrou C, Galla A, Pasparaki A, Patsalis PC, Moschonas N, Kitsiou-Tzeli S. Cryptic mosaisism of chromosome Y in children with Turner Syndrome. Pediatric: 63:499-506, 2000.

46. Skordis N, Patsalis PC, Hettinger J, Krishnamari MRS, Philipps JA III. Identification of a novel point mutation in the AVP-NPII gene in autosomal dominant neurohypophyseal diabetes insipidous. Hormone Research, 53:239-245, 2000

47. Kitsiou S, Kavazarakis EM, Tsezou A, Galla A, Gourgiotis D, Theodoridis Ch, Hadjiathanasiou Ch, Karris C, Patsalis PC, Sismani C, Pasparaki A, Moschonas N. Genotype analysis of Turner Syndrome patients and correlation with phenotype. Human Genetics, 49-54, 1999.

48. Tsezou A, Hadjiathanasiou Ch, Gourgiotis D, Galla A, Kavazarakis EM, Pasparaki A, Kapsetaki M, Sismani C, Theodoridis Ch, Patsalis PC, Moschonas N, Kitsiou S. 1999. Molecular Genetics of Turner Syndrome: correlation with clinical phenotype and response to growth hormone therapy. Clinical Genetics, 56:441-446, 1999.

49. Allingham-Hawkins DJ, Patsalis PC, et al (multi-center study). Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study. American Journal of Medical Genetics 83: 322-325, 1999.

50. Patsalis PC, Sismani C, Stylianou S, Ioannou P, Joseph G, Manoli P, Holden J, Hettinger J. Genetic variation and intergenerational FMR1 CGG-repeat stability in l00 three generation families from the normal population. American Journal of Medical Genetics 84: 217-220, 1999.

51. Patsalis PC, Sismani C, Hettinger J, 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. American Journal of Medical Genetics: 184-190. 1999.

52. Patsalis PC, Sismani C, Hettinger J, Holden J, Lawson S, Chalifoux M, Wing M, Walker M, Leggo J. Frequencies of "gray-zone" and premutation-size FMR1 CGG-repeat alleles in patients with developmental disability in Cyprus and Canada. American Journal of Medical Genetics 84: 195-197, 1999.

53. Patsalis PC. FMRI-repeat analysis in patients with ovarian dysfunction or failure. American Journal of Medical Genetics 83:329-330, 1999.

54. Syrrou M, Georgiou I, Patsalis PC, Bouba I, Adonakis G, Pagoulatos G. Fragile X premutations and (TA)n estrogen receptor polymorphism in women with ovarian disfunction. American Journal of Medical Genetics 84: 306-308, 1999.

55. Karadina G, Bugge M, Nicolaides P, Vassilopoullos D, Abramopoullos D, Grigoriadou M, Albrecht B, Anneren G, Blennow B, von Beust G, Pajares IL, Brondum-Nielsen K, Clausen N, Galla-Voumvouraki A, Hahnemman JM, Hertz JM, Kitsiou-Tzelo S, Lacombe D, Miller K, Moncla A, Passarge E, Patsalis PC, Prieur M, Tsezou A, Vakemans M, Petersen MP. Origin of nondisjunction studies in trisomy 8 mosaicism. European Journal Human Genetics 6: 432-438, 1998.

56. Christodoulou R, Tsingis M, Staurou C, Eleftheriou A, Papapavlou P, Patsalis PC, Ioannou P, Pierides A, Deltas Constantinou C. Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease (ADMCKD). Human Molecular Genetics 7 (5): 905-911, 1998.

57. Koptides M, Constantinides R, Patsalis PC, Kyriakides G, Hadjigavriel MP, Pierides A, Deltas Constantinou C. 1998. Loss of heterozygocity in polycystic kidney disease with a missense mutation in the repeated region of PKD1. Human Genetics, 103:709-717, 1998.

58. Hadjiathanasiou C, Theodorides C, Kitsiou-Tzeli S, Tsezou A and Patsalis PC. Cryptic mosaisism of chromosome Y in children with Turner Syndrome. Pediatric: 61:192-198, 1998.

59. Syrrou M, Patsalis PC, Georgiou I, Alamanos I, Pagoulatos G. Variation in the number of FMR-1 microsatellite repeats in three subgroups of the Hellenic population. Human Biology 3, 70:621-629, 1998.

60. Patsalis PC, Sismani C, Hadjimarcou M, Kitsiou-Tzeli S, Tsezou A, Hadjiathanasiou C, Velissariou V , Lymberatou E, Moschonas N, Skordis N. Detection and incidence of cryptic Y-chromosome sequences in Turner syndrome patients. Clinical Genetics: 53: 249-257, 1998.

61. Syrrou M, Georgiou I, Gregoriadou G, Petersen MB, Kitsiou S, Pagoulatos G and Patsalis PC. FRAXA and FRAXE prevelance in Patients with Non-specific Mental Retardation in the Hellenic population. Genetic Epidemiology 15: 1: 103-109, 1998.

62. Skordis N, , Hadjimarkou M, Zera C, Kitsiou-Tseli S, Tsezou S, Moraitou-Lymberatou E, Kosmaidou-Aravidou Z, Belissariou V and Patsalis PC. Identification of the SRY gene in Turner Syndrome. Cyprus Medical Journal 15:3-5, 1997.

63. Patsalis PC, Skordis N. Prenatal Detection of 45,X/47,XXX: Confirmation with Cytogenetic and FISH after Birth and Clinical Evaluation in two cases. Hellenic Medical Journal 2, 73-77, 1997.

64. Patsalis PC, Hadjimarcou M, Velissariou V, Kitsiou-Tzeli S, Zera C, Syrrou M, Lyberatou E, Tsezou A, Galla A, Skordis N. Supernumerary Marker Chromosomes (SMCs) in Turner Syndrome are mostly derived from the Y chromosome. Clinical Genetics 3, 51:184-190, 1997.

65. Banga SS, Kim S, Hubbard K, Dasgupta T, Jha K, Patsalis PC, Hauptschein R, Gamberi B, Dalla-Favera R, Kraemer P and Ozer H. SEN6, a locus for SV40-mediated immortalization of Human cells, maps to 6q26-27. Oncogene 14:313-321, 1997.

66. Patsalis PC, Sismani K, Hadjimarcou M, Rose N, Stylianidou G, Koukoulli R, Anastasiadou V, Constantinou-Deltas CD, Middleton L. Cytogenetic and Fragile X Molecular Testing of Individuals with Mentally Retarded Population of Unknown Etiology. Genetic Counseling 8:1-6, 1997.

67. Constantinou Deltas C, Bashiardes E, Patsalis PC, Hadjimarcou M, Kroisel P M, Ioannou PA, Roses AD, Lee JE. Complete Coding Sequence, Exon/Intron Arrangement, and Chromosomal Localization of ZNF45, a KRAB-Domain-Containing Gene. Cytogenetics and Cell Genetics 75:230-233, 1996.

68. Ozer HL, Banga S S, Dasgupta T, Houghton J M, Hubbard K, Jha K, Kim S, Lenaham M,Pang Z , Pardinas J and Patsalis PC. SV40-mediated immortalization of human fibroblasts. Experimental Gerontology 31:303-310, 1996.

69. Patsalis PC, Syrrou M, Hadjimarcou M, Georgiou I, Constantinou-Deltas CD, Pagoulatos G. Evidence for High-Risk Haplotypes and (CGG)n Expansion in Fragile X Syndrome in the Hellenic Population of Greece and Cyprus. American Journal of Medical Genetics 64:234-238, 1996.

70. Patsalis PC, Ozer HL and Henderson AS. Sequence and STS of two new single copy DNA markers p21.6A (D6S116) and p21.14A (D6S122) on chromosome region 6q14-15; D6S122 highly homologous to Igk chain. Clinical Genetics 48:275-276, 1995.

71. McDowell K, Hadjiargyrou M, Patsalis PC and Henderson AS. Transcription of rDNA is essential for satellite association. Cytogenetics Cell Genetics, 66:63-67, 1994.

72. Hubbard-Smith K, Patsalis PC, Pardinas J, Jha K, Henderson AS, Ozer HL,. Altered chromosome 6 in immortal human fibroblast. Molecular Cellular Biology, 12:2273-2281, 1992.