Name:
SOPHIA KITSIOU-TZELI
Place and date of birth:
Present Academic Position:
Athens, 1950
Professor of Medical Genetics, Athens University Medical
School, Department of Medical Genetics, Aghia Sophia
Children’s Hospital Athens, Greece
Education
 Degree in Medicine, MD. Athens University Medical School, 1974
 PhD (with honors), Athens University Medical School, 1978
 Specialty in Pediatrics, Athens University Medical School, 1979
 Certificate Research Fellow, Massachussetts General Hospital, Harvard Medical
School, Boston, USA, 1981
Position and Academic Degrees
1980-1981 : Research Fellow, Genetics Unit / Cytogenetics Laboratory / Embryology Teratology Unit, Massachussetts General Hospital, Harvard Medical School,
Boston, MA, USA
1982-2000 : Head of Cytogenetics Laboratory, 2nd Department of Pediatrics, Athens
University Medical School, Aglaia Kyriakou Children’s Hospital, Athens,
Greece
1982-1991 : Lecturer in Pediatrics, Athens University Medical School
1991-2000 : Assistant Professor of Medical Genetics, Athens University Medical School
2000-2012 : Head of the Prenatal Diagnosis Laboratory and Clinics of Medical Genetics,
Department of Medical Genetics, Choremio Research Laboratory, Athens
University Medical School, Aghia Sophia Children’s Hospital, Athens,
Greece
2000-2012 : Associate Professor of Medical Genetics, Athens University Medical School
2012-present : Professor of Medical Genetics, Athens University Medical School
2012-present: Head of the Prenatal Diagnosis Laboratory, Cytogenetics Laboratory and
Clinics of Medical Genetics, Department of Medical Genetics (Chairman:
Prof. E Kanavakis), Choremio Research Laboratory, Athens University
Medical School, Aghia Sophia Children’s Hospital, Athens, Greece
Main Scientific Interests: Clinical Genetics, Genetic Counseling, Cytogenetics, Molecular
Cytogenetics, Molecular Genetics, Prenatal Genetic Diagnosis, Embryology Teratology
Publications in International Medical Journals
: 130
123 already published (Pub Med: as Sophia Kitsiou-Tzeli or Sophia Kitsiou or
Kitsiou-Tzeli Sophia or Tzeli SK, or Tzelli SK)
2 already accepted (Pub Med)
5 already published in International Medical Journals not listed in Pub Med
Lectures-Abstracts in International Conferences
Publications in International Medical Books
Publications in Greek Medical Journals
Lectures-Abstracts in Greek Conferences
Publications in Greek Medical Books
:155
: 10
: 71
:216
: 45
Authorship of Book:
“Congenital Birth Defect and Teratogenic Agents” Sophia Kitsiou-Tzeli, Zeta Medical Press,
Athens, Greece, 1992.
LIST OF PUBLICATIONS ( SCI)
Search: Kitsiou-Tzeli S, Kitsiou-Tzelli S, Tzeli-Kitsiou S, Kitsiou S, Tzeli S.K,.
International Joubert Syndrome Related Disorders Study Group
1.
Kafetzis DA, Sinaniotis CA, Kitsiou-Tzeli S, Papadatos CJ.
Tobramycin dosage in infants and children.
Lancet 1978; 2(8102): 1264.
2.
Hadjigeorgiou E, Kitsiou S, Psaroudakis A, Segos C, Nicolopoulos D,
Kaskarelis D.
Antepartum aminophylline treatment for prevention of the respiratory distress
syndrome in premature infants.
Am J Obstet Gynecol 1979; 135(2):257-260.
3. Kilsiou-Τzeli S, Dellagramaticas HD, Papas CB, Ladas ID, Bartsocas CS.
Unusual ocular findings in an infant with cri-du-chat syndrome.
J Med Genet 1983; 20(4):304-307.
4. Kitsiou-Tzeli S, Hallett JJ, Atkins L, Latt SA, Holmes LB.
Familial t (4;21)(q2.4;q2.2) leading to unbalanced offspring with partial
duplication of 4q and of 21 q without manifestations of the Down syndrome.
Am J Med Genet 1984; 18(4):725-729.
5. Antonarakis SE, Kittur SD, Metaxotou C, Bartsocas C, Kitsiou S, Watkins PC,
Patel AS, Warren AC, Gusella JF, Groner Y, Charkavarti A, Meyers DA,
Kazazian JR.
Linkage map on chromosome 21q and the association of a DNA haplotype with a
propensity to nondisjunction and trisomy 21.
Ann N Y Acad Sci 1985; 450:95-107.
6. Kitsiou S, Bartsocas CS, Alexiou D, Mourtzinis.
Unusual pathologic findings in a girl with Wolf-Hirschhorn syndrome, del (4p).
Pediatr Pathol 1986; 6(2-3): 161-165
(Pediatr Pathol Lab Med από το έτος 1998)
7. Kitsiou S, Bartsocas CS.
Unusual association of XYY chromosomal constitution with colobomas of iris,
myopia, increased lipoproteins, mental retardation and convulsions.
Ann Genet 1986; (4):264-265
(Eur J Med Genet από το έτος 2004)
8. Malamitsi-Puchner A, Kitsiou S, Bartsocas CS.
Severe Proteus syndrome in an 18-month-old boy.
Am J Med Genet 1987; 27(1): 119-125.
9. Kitsiou S, Tsezou A, Bartsocas CS, Tapratzi P, Kourakis G, Papas C,
Dellagrammaticas H.
Complex chromosome rearrangement in a retarded girl with malformations.
Ann Genet 1987; 30(1):59-61
(Eur J Med Genet από το έτος 2004
10. Kitsiou S, Saxoni-Papageorgiou P, Haidemenaki T, Gala A, Koukoutsakis P,
Slavrinadis C, Plassara M, Sinaniotis C.
Sister chromatid exchanges in peripheral lymphocytes of children vaccinated
against rubella and measles-mumps-rubella.
Acta Paediatr Scand 1988; 77(6): 879-884.
11. Kitsiou S, Siapera M, Amos J, Atkins L, Bartsocas CS.
Polymorphism of restriction fragment length in the detection of the precise status
of monosomy 21 in a deformed retarded girl
(Etudes de polymorphismes de la longueur des fragments de restriction afin de
détecter l’état précis de la monosomie 21 d’une fillette malformée et retardée)
J Genet Hum 1988; 36(l-2):99-102.
12. Galla A. Kitsiou-Tzeli S, Gourgiotis D, Hadjigeorgiou E, Yousef-Ayash H,
Kanarios J, Ritchardson K, Sinaniotis C.
Sister chromatid exchanges in peripheral lymphocytes in newborns treated with
phototherapy and vitamin E.
Acta Paediatr 1992; 81 (10):820-823.
13. Tsezou A, Kitsiou-Tzeli S, Kosmidis H, Paidousi K, Katsouyanni K, Sinaniotis
C.
Constitutive heterochromatin polymorphisms in children with acute
lymphoblastic leukemia.
Pediatr Hemat Oncol 1993; 10(1):7-11.
14. Apostolopoulos TD, Kyriakidis MK, Kitsiou S, Galla-Voumvouraki AD,
Tsezou AN, Toutouzas PK.
45,X Turner syndrome with normal ovarial function and multiple malformations
of the aorta.
Postgrad Med J 1994; 70(829):838-840
15. Kitsiou-Tzeli S, Galla-Voumvouraki A, Tsezou A, Kavazarakis E, Skardoutsou
A, Koukoutsakis P, Sinaniotis C.
Cytogenetic studies in children on long-term anticonvulsant therapy.
Acta Paediatr 1994; 83(6):672-673.
16. Bajalica S, Blennow E, Tsezou A, Galla-Voumvouraki A, Alevizaki M,
Sinaniotis C, Kitsiou-Tzeli S.
Partial disomy of Xp and the presence of SRY in a phenotypic female.
J Med Genet 1995; 32(12): 987-990.
17. Tsezou A, Kitsiou-Tzeli S, Galla A, Gourgiotis A, Papageorgiou J, Mitrou S,
Molyvdas PA, Sinaniotis C.
High nitrate content in drinking water: cytogenetic effects in exposed children.
Arch Environ Health 1996; 51(6):458-461.
18. Bugge M, Blennow E, Friedrich U, Petersen MB, Pedeutour F, Tsezou A, Orum
A, Hermann S, Lyngbye T, Sarri C, Avramopoulos D, Kitsiou S, Lambert JC,
Guzda M, Tommerup N, Brondum-Nielsen K.
Tetrasomy 18p de novo: parental origin and different mechanisms of formation.
Eur J Hum Genet 1996; 4(3): 160-167.
19. Patsalis PC, Hadjimarcou MI, Velissariou V, Kitsiou-Tzeli S, Zera Chr, Syrrou
M, Lyberatou E, Tsezou A, Galla A, Skordis N.
Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly
derived from the Y chromosome
Clin Genet 1997; 51(3):184-190.
20. Syrrou M, Georgiou I, Grigoriadou M, Petersen MB, Kitsiou S, Pagoulatos G,
Patsalis PC.
FRAXA and FRAXE prevalence in patients with nonspecific mental retardation
in the Hellenic population.
Genet Epidemiol 1998; 15(1): 103-109.
21. Karadima G, Bugge M, Nicolaidis P, Vassilopoulos D, Avramopoulos D,
Grigoriadou M, Albrecht B, Passarge E, Anneren G, Blennow E, Clausen N,
Galla-Voumvouraki A, Tsezou A, Kitsiou-Tzeli S, Hahnemman JM, Hertz JM,
Houge G, Kuklik M, Macek M, Lacombe D, Miller K, Moncla A, Lopez-Pajares
I, Patsalis PC, Prieur M, Vekemans M, von Buest G, Brondum-Nielsen K,
Petersen MB.
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism.
Eur J Hum Genet 1998; 6(5):432-438.
22. Patsalis PC, Sismani C, Hadjimarcou MI, Kitsiou-Tzeli S, Tsezou A,
Hadjiathanasiou CG, Velissariou V, Lymberatou E, Moschonas NK, Skordis N.
Detection and incidence of cryptic Y chromosome sequences in Turner
syndrome patients.
Clin Genet 1998; 53(4):249-257.
23. Papadopoulos NG, Papadaki E, Kitsiou-Tzeli S, Farmakakis T, Fretzayas A.
A case of non-Fanconi anemia bone marrow dysfunction with familial
involvement.
Pediatr Hemat Oncol 1998; 15(3): 277-281.
24. Tsezou A, Hadjiathanasiou C, Gourgiotis D, Galla A, Kavazarakis E, Pasparaki
A, Kapsetaki M, Sismani C, Theodoridis C, Patsalis PC, Moschonas N, Kitsiou
S.
Molecular genetics of Turner syndrome: correlation with clinical phenotype and
response to growth hormone therapy.
Clin Genet 1999; 56(6): 441-446.
25. Papadopoulos N, Papadaki E, Kitsiou S, Farmakis Th, Fretzayas A,
Diagnosis of Fanconi anemia
Pediatr Hemat Oncol 16(3): 273, 1999
26. Kavazarakis E, Tsezou A, Tzetis M, Hadjidimoula A, Kitsiou S, Kanavakis E.
Gilbert syndrome: analysis of the promoter region of the uridine diphosphate-
glucuronosyltransferase 1 gene in the Greek population.
Eur J Pediatr 2000; 159(11):873-874.
27. Tsezou A, Kitsiou S, Galla A, Petersen MB, Karadima G, Syrrou M, Sahlen S,
Blennow E.
Molecular cytogenetic characterization and origin of two de novo duplication
9p cases.
Am J Med Genet 2000; 13:91(2):102-106.
28. Tsezou A, Tzetis M, Kitsiou S, Kavazarakis E, Galla A, Kanavakis E.
A Caucasian boy with Gilbert's syndrome heterozygous for the (TA)(8) allele.
Haematologica (Hematol J) 2000; 85(3):319
29. Tzetis M, Kanavakis E, Tsezou A, Ladis V, Pateraki E, Georgakopoulou T,
Kavazarakis E, Maragoudaki E, Karpathios T, Kitsiou-Tzeli S.
Gilbert syndrome associated with beta-thalassemia.
Pediatr Hemat Oncol 2001; 18(8): 477-484.
30. Tsenghi C, Tzeli- Kitsiou S.
Greece: the Hellenic Association of Medical Geneticists (Ιnternational
Genetics)
Genet Med 2001; 3(3):221.
31. Fretzayas A, Moustaki M, Kitsiou S, Mathioudakis J, Karpathios T.
Splenic granulomatous lesions in immunocompetent pediatric patients with
visceral leishmaniasis.
Scand J Infect Dis 2001; 33(11):865-867.
32. Kitsiou-Tzeli S, Kanavakis E, Tzetis M, Kavazarakis E, Galla A, Tsezou A.
Gilbert's syndrome as a predisposing factor for idiopathic cholelithiasis in
children.
Haematologica (Hematol J) 2003; 88(10): 1193-1194.
33. Kitsiou S, Kolialexi A, Mavrou A.
Mosaic Cri-du-Chat syndrome in a patient exhibiting three 5p cell lines.
Prenatal Diag 2004;24(7):578-579.
34. Kolialexi A, Tsangaris GT, Antsaklis A, Kitsiou-Tzeli S, Mavrou A.
Use of annexin V for the identification of fetal cells in maternal circulation.
In Vivo 2004; 18(5): 629-632.
35. Kanaka-Gantenbein C, Kitsiou S, Mavrou A, Stamoyannou L, Kolialexi A,
Kekou K, Liakopoulou M, Chrousos G.
Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X
syndrome harboring three SHOX genes: offspring of a father with mosaic
Klinefelter syndrome but with two maternal X chromosomes.
Horm Res 2004; 61(5): 205-210.
36. Kitsiou-Tzeli S, Kolialexi A, Fryssira A, Galla – Vouvmouraki A, Salavoura K,
Kanariou M, Tsangaris GT, Kanavakis E, Mavrou A.
Detection of 22q11.2 deletion among 139 patients with Di George /
Velocardiofacial syndrome features.
In Vivo 2004; 18(5): 603-608.
37. Kitsiou-Tzeli S, Kolialexi A, Mavrou A.
Endocrine manifestations in DiGeorge and other microdeletion syndromes
related to 22q11.2.
Hormones (Athens) Int J Endocrinol 2005; 4(4):200-209.
38. 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 A 2005; 135(2): 145-149.
39. Nicolaidou P, Kostaridou S, Mavri A, Galla A, Kitsiou S, Stamoulakatou A.
Glucose-6-phosphate dehydrogenase deficiency and Gilbert syndrome: a gene
interaction underlies severe jaundice without severe hemolysis.
Pediatr Hemat Oncol 2005; 22(7):561-566.
40. Kolialexi A, Tsangaris GT, Kitsiou S, Kanavakis E, Mavrou A.
Impact of cytogenetic and molecular cytogenetic studies on hematologic
malignancies.
Anticancer Res 2005; 25(4):2979-2983.
41. Amenta S, Sofocleous C, Kolialexi A, Thomaidis L, Giouroukos S, Karavitakis
E, Mavrou A, Kitsiou S, Kanavakis E, Fryssira H.
Clinical manifestations and molecular investigation of 50 patients with Williams
syndrome in the Greek population.
Pediatr Res 2005; 57(6):789-795.
42. Touliatou V, Fryssira H, Mavrou A, Kanavakis E, Kitsiou-Tzeli S.
Clinical manifestations in 17 Greek patients with Goldenhar syndrome.
Genet Counsel 2006; 17(3):359-370.
43. Leka SK, Kitsiou-Tzeli S, Kalpini-Mavrou A, Kanavakis E.
Short stature and dysmorphology associated with defects in the SHOX gene.
Hormones (Athens) Int J Endocrinol 2006; 5(2):107-118.
44. Kitsiou-Tzeli S, Papadopoulou A, Kanaka-Gantenbein C, Fretzayas A,
Daskalopoulos D, Kanavakis E, Nicolaidou P.
Does the rare A172G mutation of PTPN11 gene convey a mild Noonan
syndrome phenotype?
Horm Res 2006; 66(3): 124-131.
45. Salavoura K, Valari M, Kolialexi A, Mavrou A, Kitsiou S.
A case of Ehlers Danlos syndrome type VI.
Genet Counsel 2006; 17(3):291 -294.
46. Kolialexi A, Kitsiou S, Fryssira H, Sofocleous C, Kouvidi E, Tsangaris GT,
Salavoura K, Mavrou A.
Identification of autosomal supernumerary chromosome markers (SMCs) by
fluorescent in situ hybridization (FISH).
In Vivo 2006; 20(4):473-478.
47. Fretzayas A, Kitsiou S, Tsezou A, Alexaki A, Nicolaidou P.
UGT1A1 promoter polymorphism as a predisposing factor of
hyperbilirubinaemia in neonates with acute pyelonephritis.
Scand J Infect Dis 2006; 38(6-7):537-540.
48. Nicolaidou P, Papadopoulou A, Georgouli H, Matsinos YC, Tsapra H, Fretzayas
A, Giannoulia-Karantana A, Kitsiou S, Douros K, Papassotiriou I, Chrousos GP.
Calcium and vitamin D metabolism in hypocalcemic vitamin D-resistant rickets
carriers.
Horm Res 2006; 65(2):83-88.
49.
Fretzayas A, Kitsiou S, Papadopoulou A, Nicolaidou P.
Clinical expression of co-inherited Dubin-Johnson and thalassaemic
heterozygous states.
Digest Liver Dis 2007; 39(4):369-374.
50. Kolialexi A, Tsangaris GT, Anagnostopoulos A, Chondros D, Bagiokos V.
Kitsiou S, Kanavakis B, Mavrou A.
Two-way trafficking of Annexin V positive cells between mother and fetus:
determination of apoptosis at delivery.
Prenatal Diag 2007; 27(4):348-351.
51. Moschovi M, Touliatou V, Papadopoulou A, Mayakou MA, Nicolaidou PN,
Kitsiou-Tzeli S.
Rhabdomyosarcoma in a patient with Noonan syndrome phenotype and review
of the literature.
J Pediatr Hematol Oncol 2007; 29(5): 341-344.
52. Voutoufianakis S, Psoni S, Vorgia P, Tsekoura F, Kekou K, Traeger-Synodinos
J, Kitsiou S, Kanavakis Ε, Fryssira H.
Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic
features of spinal muscular atrophy (SMA) type II and Rett syndrome
Eur J Paediatr Neurol 2007;11(4):235-239.
53. Kanaka-Gantenbein Ch, Papandreou E. Stefanaki K, Fryssira H, Kolialexi A,
Sophocleous C, Mavrou A, Kitsiou-Tzeli S, Chrousos GP.
Spontaneous ovulation in a true hermaphrodite with normal male phenotype
and a rare 46,XX/47,XXY Klinefelter's mosaic karyotype.
Horm Res 2007; 68(3): 139-144.
54. Kitsiou-Tzeli S, Giannatou E, Spanos I, Nicolaidou P, Fretzayas A, Tzetis M,
Lazaris D, Kanavakis E, Tsezou A.
Steroid hormones polymorphisms and cholelithiasis in Greek population.
Liver Int 2007; 27(l):61-68.
55. Kitsiou-Tzeli S, Sismani C, Ioannides M, Bashiardes S, Ketoni A, Touliatou V,
Kolialexi A, Mavrou A, Kanavakis E, Patsalis PC.
Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric
deletion.
Eur J Med Genet 2007; 50(1):73-78.
56. Mavrou A, Kouvidi E, Antsaklis A, Souka A, Kitsiou Tzeli S, Kolialexi A.
Identification of nucleated red blood cells in maternal circulation: a second step
in screening for fetal aneuploidies and pregnancy complications.
Prenatal Diag 2007; 27(2): 150-153.
57.
Touliatou V, Mavrou A, Kolialexi E, Kanavakis E, Kitsiou-Tzeli S.
Saethre Chotzen syndrome with severe developmental delay associated with
deletion of chromosomic region 7p15→pter
Genet Counsel 2007; 18(3): 295-301.
58.
Vogiatzakis N, Kekou K, Sofocleous C, Kitsiou S, Mavrou A, Bakoula C,
Kanavakis E.
Screening human genes for small alterations performing an enzymatic
cleavage mismatched analysis (ECMA) protocol
Mol Biotechnol 2007;37(3):212-219
59.
Tsezou A, Tzetis M, Giannatou E. Gennatas C, Pampanos A, Kanavakis E,
Kitsiou-Tzeli S.
Genetic polymorphisms in the UGT1A1 gene and breast cancer risk in Greek
women
Genet Test 2007;11(3):303-306
60. Fryssira H, Leventopoulos G, Psoni S, Kitsiou-Tzeli S, Stavrianeas N,
Kanavakis E
Tumor development in three patients with Noonan syndrome
Eur J Pediatr 2007; 167(9): 1025-1031
61. Tsezou A, Tzetis M, Gennatas C, Giannatou E, Pampanos A, Malamis G,
Kanavakis E,
Kitsiou S.
Association of repeat polymorphisms in the estrogen receptors alpha, beta
(ERS1, ESR2) and androgen receptor (AR) genes with the occurrence of breast
cancer
Breast 2008; 17(2): 159-166
62. Kitsiou-Tzeli S, Sismani C, Koumbaris G, Ioannides M, Kanavakis E, Kolialexi
A, Mavrou A, Touliatou V, Patsalis Ph.
Distal del(4)(q33) syndrome: Detailed clinical presentation and molecular
description with array-CGH
Eur J Med Genet 2008; 51(1): 61-67
63. Galani A, Sofocleous Ch, Karahaliou F, Papathanasiou A, Kitsiou-Tzeli S,
Kalpini-Mavrou A.
Sex-reversed phenotype in association with two novel mutations c. 2494 del A
and c.T3004 C in the ligand-binding domain of the androgen receptor gene
Fertil Steril 2008; 90(5): e1-4
64. Salavoura K, Kolialexi A, Sofocleous C, Kalatzidaki M, Pampanos A, Kitsiou S,
Mavrou A.
Complex rearrangements of chromosome 15 in two patients with mild/atypical
Prader-Willi phenotype
Genet Counsel 2008; 19 (2): 219-224
65. 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 10p12.1-1.2.2 → pter
originating from an unbalanced translocation onto 15qter and confirmed with
array CGH.
Prenatal Diag 2008; 28(8): 770-772
66. Sofocleous C, Kitsiou S, Fryssira H, Kolialexi A, Kalaitzidaki M, Roma E,
Tsangaris GT, Christofidou C, Metaxotou C, Kanavakis E, Mavrou A.
Ten years experience in Fragile X testing among mentally retarded indivisuals
in Greece: a molecular and epidemiological approach
Ιn Vivo 2008; 22: 451-456
67. Sismani C, Kitsiou-Tzeli S, Ιoannides M, Crhistodoulou C, Anastasiadou V,
Stylianidou G, Papadopoulou E, Kanavakis E, Kosmaidou J, Patsalis PC
Cryptic genomic imbalances in patients with abnormal phenotype and de novo
or familial apparently balanced tranlsocations
Molecular Cytogenetics 2008; 1(1): 15
68. Galani A, Kitsiou-Tzeli S, Sofokleous C, Kanavakis Em, Kalpini-Mavrou A.
Androgen insensitivity syndrome: clinical features and molecular defects
Ηormones (Athens), Int J Endocrinol 2008; 7(3): 217-229
69. Markouri M, Karpathios T, Dinopoulos A, Attilakos A, Fretzayas A, Bakoula C,
Kitsiou-Tzeli S.
Okamoto syndrome in a girl of Caucasian origin
Dev Med Child Neurol 2008; 50(12): 950-952
70. Tsezou A, Poultsides L, Kostopoulou F, Zintzaras E, Satra M, Kitsiou-Tzeli S,
Malizos KN.
Genetic susceptibility to chronic osteomyelitis: influence of interleukin 1 alpha
(IL-1alpha), IL-4, and IL-6 polymorphisms
Clin Vaccine Immunol 2008; 15(12): 1888-1890
71. Brancati F, Travaglini L, Zablocka D, Boltshauser E, Αccorsi P, Montagna G,
Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L, International Joubert
Syndrome Related Disorders Study Group, Dallapicola B, Gleeson JG, Valente
EM, Collaborators of the International Joubert Syndrome Related Disorders
Study Group: ... Tzeli SK, (Athens, Greece)...”
PPGRIP1L mutations are mainly associated with cerebelo-renal phenotype of
Joubert syndrome related disorders
Clin Genet 2008; 74(2): 164-170
72. Leventopoulos G, Kitsiou-Tzeli S, Psoni S, Mavrou A, Kanavakis E., Willems
P, Fryssira H.
Three novel mutations in Greek Sotos patients with rare clinical manifestations
Horm Res 2009; 71(1): 45-51
73. Brancati F, Iannicelli M, Travaglini L, Mazzotta A, Bertini E, Boltshauser E,
D’Arrigo S, Emma F, Fazzi E, Gallizzi R, Gentile M, Loncarevic D, MejaskiBosnjak V, Pantaleoni C, Rigoli L, Salpietro CD, Signorini S, Stringini CR,
Verloes A, Zabloka D, The International Joubert Syndrome Related Disorders
Study Group, Dallapiccola B, Gleeson JG, Valente EM
INTERNATIONAL JSRD STUDY GROUP. Other members are:... S. Kitsiou-Tzeli,
(Athens, Greece)...”
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert
Syndrome related disorder with liver involvement
Hum Mutat 2009; 30(2): E432-E442
74. Destouni A, Vrettou C, Antonatos D, Chouliaras G, Traeger-Synodinos J,
Patsilinakos S, Kitsiou-Tzeli S, Tsigas D, Kanavakis E.
Cell-free DNA of acute myocardial infraction patients during hospitalization
Act Cardiol 2009; 64(1): 51-57
75. Psoni S, Willems PJ, Kanavakis E, Mavrou A, Frissyra H, Traeger-Synodinos J,
Sofocleous C, Makrythanassis P, Kitsiou-Tzeli S
A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in
late-onset seizure disorder
Eur J Paediatr Neurol 2009; Μay 8 [Epub ahead of print]
doi: 10.1016/j.ejpm.2009.03.006
76. Leventopoulos G, Kitsiou-Tzeli S, Kritikos K, Psoni S, Mavrou A, Kanavakis E,
Fryssira H
A clinical study of Sotos syndrome patients with review of the literature
Pediatr Neurol 2009; 40(5):357-364
77. Tsezou A, Tzetis M, Giannatou E, Spanos I, Roma E, Fretzayas A, Kanavakis E,
Kitsiou-Tzeli S
Gilbert syndrome as a predisposing factor for cholelithiasis risk in the Greek
adult population
Genet Test Mol Biomarkers 2009; 13(1): 143-146
78. Kitsiou-Tzeli S, Manolakos E, Lagou M, Anagnostopoulou K, Kontodiou M,
Kosyakova N, Ewers E, Weise A, Garas A, Orru S, Liehr T, Metaxotou A
Characterization of a prenatally assessed de novo supernumerary minute ring
chromosome 20 in a phenotypically normal male
Molecular Cytogenetics 2009; 2: 1
79. Attilakos A, Prassouli A, Hadjigeorgiou G, Lagona E, Kitsiou-Tzeli S, Galla A,
Stasinopoulou A, Karpathios T
Acute acalculous cholecystitis in children with Epstein-Barr virus infection: a
role for Gilbert’s syndrome?
Int J Infect Dis 2009; 13(4): e161-164
80. Fretzayas A, Moustaki M, Kitsiou S, Nychtari G, Alexopoulou E
Long-term follow-up of a multifocal hepatic mesenchymal hamartoma
producing a-fetoprotein.
Pediatr Surg Int 2009; 25(4): 381-384
81. Lyle R, Bena F, Gagos S, Gehrig C, Lopez G, Schinzel A, Lespinasse J, Bottani
A, Dahoun S, Taine L, Doco-Fenzy M, Cornillet-Lefebvre P, Pelet A, Lyonnet
S, Toutain A, Colleaux L, Horst J, Kennerknecht I, Wakamatsu N, Descartes M,
Franklin JC, Florentin-Arar L, Kitsiou S, Ait Yahya-Graison E, Constantine M,
Sinet PM, Delabar JM, Antonarakis SE
Genotype-phenotype correlations in Down syndrome identified by array CGH in
30 cases of partial trisomy and partial monosomy chromosome 21.
82. Megremis S, Mitsioni A, Mitsioni AG, Fylaktou I, Kitsiou-Tzelli S, Stefanidis
CJ, Kanavakis E, Traeger – Synodinos J
Nucleotide variations in the NPHS2 gene in Greek children with steroidresistant nephrotic syndrome
Genet Test Mol Biomarkers 2009; 13(2): 249-256
83. Christophidou C, Sofocleous Ch, Vrettou C., Traeger-Synodinos J, Kekou K,
Palmer G, Kokkali G, Mavrou A. Kitsiou S, Kanavakis E.
Preimplantation genetic diagnosis(PGD) for X-linked and gender dependent
disorders using a robust, flexible single-tube PCR protocol
Reprod BioMed Online 2009; 19(3): 418-415
84. Giannatou E, Leze H, Katana A, Kolialexi A, Mavrou A, Kanavakis E, KitsiouTzeli S.
Unilateral microtia in a infant with trisomy 18 mocaism
Genet Counsel 2009; 20(2): 181-187
85. Dinopoulos A, Papadopoulou A, Manta P, Kekou K, Kanellopoulos T, Fretzayas
A,
Kitsiou S
Coinheritance of Noonan syndrome and Becker muscular dystrophy.
Neuromuscular Disorders 2009; Oct 27 [Epub ahead of print]
86. Pampanos A, Volaki K, Kanavakis E, Papandreou O, Youroukos S, Thomaidis
L, Karkelis S, Tzetis M, Kitsiou-Tzeli S.
A subsitution involving the NLGN4 gene associated with autistic behaviour in
the Greek population
Genet Test Mol Biomarkers 2009; 13(5): 611-615
87. Papanikolaou V, Iliopoulos D, Dimou I, Dubos S, Tsougos I, Theodorou K,
Kitsiou-Tzeli S, Tsezou A
The involvement of HER2 and p53 status in the regulation of telomerase in
irradiated breast cancer cells.
Int J Oncol 2009; 35(5): 1141-1149
88. Fretzayas A, Moustaki M, Kitsiou S, Nychari G, Nicolaidou P,
The clinical pattern of group C streptococcal pharyngitis in children
J Infect Chemother 2009;15(4): 228-232
89. Thienpont B, Dimitriadou E, Theodoropoulos K, Breckpot J, Fryssira H,
Kitsiou-Tzeli S, Tzoufi M, Vermeesch JR, Syrrou M, Devriendt K
Refining the locus of the Branchio-Otic-Syndrome 2(BOS 2) to a 525 Mb locus
on chromosome 1q31-3q32.1
Eur J Med Genet 2009; 52: 393-397
90. Kitsiou - Tzeli S, Traeger-Synodinos J, Giannatou I, Kaminopetros P, Roma E,
Makrithanasis P, Tsezou A
The c.504T > C (p Asn 168 Asn ) polymorphism in the ABCB 4 gene as a
predisposing factor for intrahepatic cholestasis of pregnancy in Greece
Liver Int 2009; Oct 13 [Epub ahead of print]
91. Psoni S, Sofocleous Ch, Traeger-Synodinos J, Kitsiou-Tzeli S, Kanavakis E,
Fryssira H
Phenotypic and genotypic variability in four males with MECP2gene sequence
variation including a novel deletion
Pediatr Res 2010; Jan 21 [Epub ahead of print]
92. Kitsiou-Tzeli S, Leze E, Salavoura K, Giannatou E, Fretzayas A, Makrithanassis
P, Kanavakis E.
Long term follow up of a woman with classic form of Ehlers-Danlos syndrome
associated with rare manifestations and review of the literature.
Genet Counsel 2009 (in press)
93. Kitsiou-Tzeli S, Petridou ET, Karagkiouzis T, Dessypris N, Makrithanasis P,
Sifakis S, Kanavakis E.
Knowledge and attitudes towards prenatal diagnostic procedures among
pregnant women in Greece
Fetal Diagn and Ther 2009(in press)
94. Kitsiou-Tzeli S, Tzetis M, Sofocleous C, Vrettou C, Xaidara A, Giannikou K,
Pampanos A, Mavrou A, Kanavakis E
De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal
origin: clinical description, array-CGH analysis and review of the literature
Am J Med Genet A 2009 (in press)
95. Kitsiou-Tzeli S , Vrettou C, Leze E, Makrythanasis P, Kanavakis E, Willems P
Milroy’s primary congenital lymphedema in a male infant and review of the
literature.
In Vivo 2009 (in press)
96. Vogiatzakis N, Kekou K, Sophocleous C, Kitsiou S, Mavrou A. Bakoula C,
Kanavakis E, Deltas C, Voskarides K.
SURVEYOR on the Spot: Strengths and Weaknesses in Molecular Diagnostics
Journal of Molecular Diagnostics 2010; 12(2) :265-266
97. Iannicelli M, Brancati F, Mougou-ZerelliS, Mazzotta A, Thomas S, Elkhartoufi
N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P,
D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J,
Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J,
Grammatico P; International JSRD Study Group, Dallapiccola B, Gleeson JG,
Attie-Bitach T, Valente EM.
Collaborators (194) Ali Pacha L, Tazir M, Zankl A, Leventer R, Grattan-Smith
P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K,
Moco C, Moreira A, Ae Kim C, Maegawa G, Loncarevic D, Mejaski-Bosnjak
V, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, QuijanoRoy S, Sigaudy S, de Lonlay P, Romano S, Verloes A, Touraine R, Koenig M,
Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Lemke J,
Dacou-Voutetakis C, Kitsiou Tzeli S, Pons R, Sztriha L, Halldorsson S,
Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D,
Michelson M, Ben-Zeev B, Di Giacomo M, Gentile M, Guanti G, D'Addato O,
Papadia F, Spano M, Bernardi F, Seri M, Benedicenti F, Stanzial F, Borgatti R,
Accorsi P, Battaglia S, Fazzi E, Giordano L, Izzi C, Pinelli L, Boccone L,
Guanciali P, Romoli R, Bigoni S, Ferlini A, Andreucci E, Donati MA, Genuardi
M, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno, Amorini M,
Briguglio M, Briuglia S, Rigoli L, Salpietro C, Tortorella G, Adami A, Marra G,
Riva D, Scelsa B, Spaccini L, Uziel G, Coppola G, Del Giudice E, Vitiello G,
Laverda AM, Ludwig K, Permunian A, Suppiej A, Macaluso C, Signorini S,
Uggetti C, Battini R, Di Giacomo M, Priolo M, Cilio MR, D'Amico A, Di
Sabato ML, Emma F, Leuzzi V, Parisi P, Stringini G, Zanni G, Pollazzon M,
Renieri A, Vascotto M, Silengo M, De Vescovi R, Greco D, Romano C,
Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Mégarbané A,
Matuleviciene A, Sabolic Avramovska V, Said E, de Jong MM, Prescott T,
Stromme P, von der Lippe C, Koul R, Rajab A, Azam M, Barbot C, JocicJakubi B, Gener Querol B, Martorell Sampol L, Rodriguez B, PascualCastroviejo I, Strozzi S, Fluss J, Teber S, Topcu M, Anlar B, Comu S, Karaca E,
Kayserili H, Yüksel A, Akgul M, Akcakus M, Al Gazali L, Nicholl D, Woods
CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Carr L, Hennekam R, Lees M,
McKay F, Yates L, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E,
Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty
C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Cjung WK,
De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A,
Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil
D.
Novel TMEM67 mutations and genotype-phenotype correlations in meckelinrelated ciliopathies.
Human Mutation 2010; 31(5): E1319-133
98. Makrythanasis P, Tzetis M, Rapti A, Τsipi M, Kitsiou S, Tsiamouri A, Poulou
M, Roussos CH, Kanavakis E.
CFTR, TNF, IFNA 10, IFNA 17 and IFNG genotyping as potential risk markers
in pulmonary sarcoidosis pathogenesis in Greek patients
Genetic Testing and Molecular Biomarkers 2010; 14(4): 577-584
99. Μanolakos E, Kefalas K, Neroutsou R, Lagou M, Kosyakova N, Ewers E,
Ziegler M, Weise A, Tsoplou P, Rapti S-M, Papoulidis I, Anastasakis E, Garas
A, Sotiriou S, Eleftheriades M, Peitsidis P, Malathrakis D, Thomaidis L, Kitsos
G, Orru S, Liehr T, Petersen MB, and Kitsiou-Tzeli S.
Characterization of 23 small supernumerary marker chromosomes detected at
prenatal diagnosis: The value of fluorescense in situ hybridization
Μοlecular Medicine Reports 2010 ; 3(6) :1015-1022
100. Papanikolaou V, Iliopoulos D, Dimou I, Dubos S, Kappas K, Theodorou K,
Kitsiou-Tzeli S, Tsezou A.
Survivin regulation by HER2 through NF-kB and c-myc in irradiated breast
cancer cells
Journal of Cellular and Molecular Medicine 2011; 15(7): 1542-1550
101.
Koumbaris G, Hatzisevastou – Loukidou H, Alexandrou A, Ioannides M,
Christodoulou C, Fitzgerald T, Rajan D, Clayton S, Kitsiou-Tzeli S, Vermeesch
JR, Skordis N, Antoniou P, Kurg A, Georgiou I, Carter NP, Patsalis PC.
FoSTeS/MMBIR and NAHR at the human proximal Xp region and the
mechanisms of human Xq isocrhomosome formation
Human Molecular Genetics 2011; 20 (10): 1925-1936
102. Syrigou A, Pitsios C, Panagiotou I, Chouliaras G, Kitsiou S, Kanariou M, RomaGiannikou E.
Food allergy - related pediatric constipation: The usefulnes of atopy patch test.
European Journal of Paediatrics 2011; 170(9):1173-1178
103. Manolakos E, Sarri C, Vetro A, Kefalas K, Leze E, Sofocleous C, Merou K,
Kokotas H, Papadopoulou A, Attilakos A, Petersen MB and Kitsiou-Tzeli S.
Combined 22q11.1-11.21 deletion with 15q11.2-q13.3 duplication identified by
array CGH in a 6 year old boy
Molecular Cytogenetics 2011; 4(1): 6
104. Megremis S, Mitsioni A, Fylaktou I, Kitsiou-Tzeli S, Komianou F, Stefanidis CJ,
Kanavakis E, Traeger-Synodinos J.
Broad and unexpected phenotypic expresion in Greek children with steroid
resistant nephrotic syndrome due to mutations in the Wilms’ Tumor 1 (WT1) gene
European Journal of Pediatrics 2011; 170(12): 1529-1534
105. Papadopoulou A, Issakidis M, Gole E, Kosma K, Frissyra H, Fretzayas A,
Nicolaidou-Karpathiou P, Kitsiou Tzeli S.
Phenotypic spectrum of 80 Greek patients referred as Noonan Syndrome and
PTPN 11 mutation analysis: The value of initial clinical assessment
European Journal of Pediatrics 2012; 171(1): 51-58
106. Papanikolaou V, Athanasiou E, Dubos S, Dimou I, Papathanasiou I, Kitsiou-Tzeli
S, Kappas C, Tsezou A.
hTERT regulation by NF-kB and c-myc in irradiated HER 2-positive breast
cancer cells
International Journal of Radiation Biology 2011; 87(6): 609-621
107. Kitsiou-Tzeli S, Willems P, Kosmadaki M, Leze E, Vrettou C, Kanavakis E,
Katsarou A.
Nevoid basal carcinoma syndrome (Gorlin syndrome) with a novel mutation
p.Leu1159fsx32 in the PTCH gene and pronounced androgenic alopecia in a
female, as a possibly related symptom
Journal of Dermatology 2011; 38(12): 1205-108
108.
Christopoulou G, Tzetis M, Konstantinidou AE, Tzezou A, Kanavakis E, KitsiouTzeli S , Velissariou V.
Clinical and molecular description of a fetus in prenatal diagnosis with a rare de
novo ring 10 and deletions of 12.59 Mb in 10p15.3-p14 and 4.22Mb in 10q26.3
European Journal of Medical Genetics 2012; 55(1): 75-79
109.
PsoniS, Sofocleous C, Synodinou-Traeger J, Kitsiou-Tzeli S, Kanavakis E,
Fryssira-Kani oura H.
MECP2 mutations and clinical correlations in Greek children with Rett syndrome
and associated neurodevelopmental disorders
Brain and Development 2012; 34(6):487-495
110.
Kitsiou-Tzeli S, Frysira H, Giannikou K, Syrmou A, Kosma K, Kakourou G, Leze
E, Sofocleous C ,Kanavakis E, Tzetis M.
Microdeletion and Microduplication 17q21.31 plus an additional CNV in patients
with intellectual disability, identified by array-CGH
Gene 2012; 492(1): 319-324
111.
Thomaidis L, Kitsiou-Tzeli S, Critselis E, Touliatou V, Drandakis H, Mantoudis
S, Leze E, Destouni A, Traeger-Synodinos J, Kafetzis D, Kanavakis E.
Psychomotor development of children born after Preimplantation Genetic
Diagnosis and parental stress evaluation
World Journal of Pediatrics 2012; Vol 8, (4);309-316
112.
Kitsiou-Tzeli S, Konstantinidou A, Sofocleous C, Kosma K, Syrmou A,
Giannikou K, Sifakis S, Makrythanasis P, Tzetis M.
Familial Pelizaeus-Merzbacher disease caused by a 320.6-kb Xq22.2 duplication
and the pathological findings of a male fetus.
Birth Defects Res A Clin Mol Teratol. 2012 Jun;94(6):494-8.
113.
Leze E, Thomaidis L, Kitsiou-Tzeli S, Kanavakis E.
Author reply.
World J Pediatr. 2013 Feb;9(1):90-1.
114. Kitsiou-Tzeli S, Deligiorgi M, Malaktari-Skarantavou S, Vlachopoulos C,
Megremis S, Fylaktou I, Traeger-Synodinos J, Kanaka-Gantenbein C, Stefanadis
C, Kanavakis E.
Sertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46,XY
phenotypic male with Frasier syndrome carrying a WT1 IVS9+4C>T
mutation.
Hormones (Athens). 2012 Jul;11(3):361-7.
115. Giannikou K, Fryssira H, Oikonomakis V, Syrmou A, Kosma K, Tzetis M,
Kitsiou-Tzeli S, Kanavakis E.
Further delineation of novel 1p36 rearrangements by array-CGH analysis:
narrowing the breakpoints and clarifying the "extended" phenotype.
Gene. 2012 Sep 15;506(2):360-8.
116. Tzetis M, Stefanaki K, Syrmou A, Kosma K, Leze E, Giannikou K,
Oikonomakis V, b Sofocleous C, Choulakis M, Kolialexi A, Makrythanasis P,
Kitsiou-Tzeli S.
An unusual case of Cat-Eye syndrome phenotype and extragonadal mature
teratoma: review of the literature.
Birth Defects Res A Clin Mol Teratol. 2012 Jul;94(7):561-6.
117.
Tzetis M, Kitsiou-Tzeli S, Frysira H, Xaidara A, Kanavakis E.
The clinical utility of molecular karyotyping using high-resolution arraycomparative genomic hybridization.
Expert Rev Mol Diagn. 2012 Jun;12(5):449-57.
Polycentric Studies as member of the International Joubert Syndrome Related
Disorders Study Group
118. Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barano G, Bertini
E, Boltshauser E, Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E,
Battini R, Cruse RP, Dobyns WB, Krishnamoorthy KS, Lagier-Tourenne C,
Magee A, Pascual-Castroviejo I, Salpietro CD, Sarco D, Dallapiccola B, Gleeson
JG, International Joubert Syndrome Related Disorders Study Group
Appendix “The members of the International JSRD Study Group are as follows:
… Sofia Kitsiou - Tzeli (Athens, Greece)…”
AH 11 gene mutations cause specific forms of Joubert Syndrome-Related
disorders
Ann Neurol 2006; 59: 527-537
119. Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J,
Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J,
Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group, Zankl
A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster
R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D,
Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S,
de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J,
Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, ... et al Expanding CEP290
mutational spectrum in ciliopathies
Am J Med Genet Α 2009; 149A(10): 2173-2180
120. Valente EM, Silhavy JL, Brancati F, Barrano G, Krishnaswami SR, Castori M,
Lancaster MA, Boltshauser E, Boccone L, Al-Gazali L, Fazz E, Signorini S, Louie
CM, Bellacchio E, International Joubert Syndrome Related Disorders Study
Group, Berlin E, Dallapiccola B, Gleeson JG.
Appendix “Other members of the International JSRD Study Group are: … Sofia
Kitsiou - Tzeli (Athens, Greece)…”
Mutations in CEP 290 which encodes a centrosomal protein cause pleiotropic
forms of Joubert Syndrome
Nat Genet 2006; 38(6): 623-625
121. Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL,
Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Brancati F,
Boltshauser E, D’Hooghe M, Fazzi E, Fenerci EY, Hennekam RC, Kissa A, Lees
MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro CD, Sherr EH,
Signorini S, Stromme P, Stuart B, Sztriha L, Viscochil DH, Yuksel A,
Dallapiccola B, International Joubert Syndrome Related Disorders Study Group,
Valente EM, Gleeson JC
Appendix “Other members of the International JSRD Study Group are: .... Sofia
Kitsiou-Tzeli, (Athens, Greece)...”
CEP 290 mutations are frequently indentified is the oculo-renal form of Joubert
syndrome-related disorders
Am J Hum Genet 2007; 81(1): 104-114
122. Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsch SE, Bertrand JY,
Audollent S, Attie-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali
BR, Lindner TH, Caspary T, Otto EA, Hildebrand F, Glas IA, Logan CV, Johnson
CA, Bennett C, Brancati F, The International Joubert Syndrome Related Disorders
(JSRD) Study Group, Valente EM, Woods CG, Cleeson JG
Supplemental Data: Other members of the International JSRD Study Group:...
Sofia Kitsiou-Tzeli, (Athens, Greece)...”
Mutations in the Cilia Gene ARL13B lead to the classical form of Joubert
Syndrome
Am J Hum Genet 2008; 83: 170-1
123. Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N,
Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E,
Chaouch M, Roberta Cilio M, de Jong MM, Kayserili H, Ogur G, Poretti A,
Signorini S, Uziel G, Zaki MS; the International JSRD Study Group, Johnson C,
Attié-Bitach T, Gleeson JG, Valente EM
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert
syndrome and related disorders.
Eur J Hum Genet. 2013 Feb 6.. [Epub ahead of print]
PUBLICATIONS IN INTERNATIONAL MEDICAL JOURNALS
NOT LISTED IN PUB MED
1. Κitsiou-Tzeli S, Bartsocas CS.
A 4q; 6p balanced reciprocal translocation
Ippocrates 1984; 8(2): 107-109.
2. Kitsiou-Tzeli S, Bartsocas CS, Papadatos CJ
Inherited pericentric inversion of chromosome Y in a Down’s syndrome
patient
Ippocrates 1984; 8(20):111-113.
3. Salavoura K, Mavrou A, Kolialexi A, Kanavakis E, Kitsiou S.
Partial trisomy 16q from maternal translocation 8;16 and review of the
literature
Balkan Journal of Medical Genetics 2004; 7(1 & 2): 27-32.
4. Kitsiou S, Mavrou A, Kolialexi A, Sofocleous C, Bakoula C, Kanavakis E,
Dakou-Voutetakis C.
Fluorescent in situ hybridization and molecular analysis of a short girl with a
45,X/46,X, idic(X) (qterp12.3::p12.3qter) karyotype
Balkan Journal of Medical Genetics 2005; 8(1 & 2): 39-43.
5. Roma - Giannikou E., Papazoglou ThA, Panayiotou JV, van Vliet CP, Kitsiou
S., Syriopoulou V, Geroulanos GC
Colon Polyps in Childhood: Increased Mucosal Eosinophilia in Juvenile
Polyps
Annals of Gastroenterology 2008; 21(4): 229-232.