E Kanavakis

Summary

Affiliation: University of Athens
Country: Greece

Publications

  1. pmc Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype
    Carolina Sismani
    Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics Nicosia, Cyprus
    Mol Cytogenet 1:15. 2008
  2. ncbi Preimplantation genetic diagnosis in 10 couples at risk for transmitting beta-thalassaemia major: clinical experience including the initiation of six singleton pregnancies
    E Kanavakis
    First Department of Pediatrics, Athens University, St Sophia s Children s Hospital, Greece
    Prenat Diagn 19:1217-22. 1999
  3. ncbi Phenotypic and molecular diversity of haemoglobin H disease: a Greek experience
    E Kanavakis
    First Department Paediatrics, University of Athens, Greece
    Br J Haematol 111:915-23. 2000
  4. pmc Preimplantation genetic diagnosis in clinical practice
    E Kanavakis
    Medical Genetics, University of Athens, Aghia Sophia Children s Hospital, Athens 11527, Greece
    J Med Genet 39:6-11. 2002
  5. ncbi Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait
    Emmanuel Kanavakis
    Athens University, Aghia Sophia, Children s Hospital, Greece
    Dev Med Child Neurol 45:833-6. 2003
  6. ncbi Erythroid marrow activity and functional anemia in patients with the rare interaction of a single functional a-globin and beta-globin gene
    J Traeger-Synodinos
    Medical Genetics, Athens University, Aghia Sophia Children's Hospital, Athens, Greece
    Haematologica 86:363-7. 2001
  7. ncbi Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals
    E Kanavakis
    Medical Genetics, Athens University Cystic Fibrosis Unit, Aghia Sophia Children s Hospital, Athens, Greece
    Clin Genet 63:400-9. 2003
  8. ncbi Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis
    M Tzetis
    Department of Medical Genetics, Medical School, Athens University, Athens, Greece
    Clin Genet 71:451-7. 2007
  9. ncbi Hb Sitia [beta128(H6)Ala-->Val]: an unstable variant with a substitution in the alpha1beta1 interface
    I Papassotiriou
    Department of Clinical Biochemistry, Aghia Sophia Children s Hospital, Athens, Greece
    Hemoglobin 25:45-56. 2001
  10. ncbi Rapid and accurate quantitation of Hb Bart's and Hb H using weak cation exchange high performance liquid chromatography: correlation with the alpha-thalassemia genotype
    I Papassotiriou
    Department of Clinical Biochemistry, Aghia Sophia, Children s Hospital, Athens, Greece
    Hemoglobin 23:203-11. 1999

Collaborators

  • A Mavrou
  • A Kolialexi
  • F Tzortzatou-Stathopoulou
  • M Braoudaki
  • Maria Tzetis
  • M Fotoulaki
  • A Fretzayas
  • G Kokkali
  • A J Stratigos
  • P Nicolaidou
  • Kathryn Swoboda
  • Eleni Leze
  • J Kister
  • H Wajcman
  • Athanassia Sergounioti
  • Joanne Traeger-Synodinos
  • O Cogulu
  • S Kitsiou-Tzeli
  • Christina Vrettou
  • Sofia Kitsiou-Tzeli
  • K Kekou
  • H Fryssira
  • V Touliatou
  • C Sofocleous
  • Sophia Kitsiou-Tzeli
  • E Giannatou
  • Carolina Sismani
  • Christalena Sofocleous
  • P Sakellariou
  • S Kitsiou
  • Ioannis Papassotiriou
  • Alexandra Stamoulakatou
  • I Papassotiriou
  • C Christofidou
  • Marios Ioannides
  • Philippos C Patsalis
  • Angeliki Galani
  • Ariadni Kalpini-Mavrou
  • I Stefanaki
  • A Tsezou
  • M Kaliakatsos
  • Sofia K Leka
  • Stella Amenta
  • C Vrettou
  • C Karagianni
  • Giles Palmer
  • G Konstantinidis
  • A Panousopoulou
  • P Manta
  • K Gounaris
  • Andreas Pampanos
  • Athena Xaidara
  • Krinio Giannikou
  • A Stamoulakatou
  • A Katana
  • A Destouni
  • H Leze
  • G Palmer
  • Goula Stylianidou
  • Violetta Anastasiadou
  • Vasiliki Touliatou
  • Zoe Kosmaidou-Aravidou
  • Christodoulos Christodoulou
  • George Koumbaris
  • Eleftheria Papadopoulou
  • Christalena Sofokleous
  • O Papadopoulos
  • P Panagiotou
  • C Antoniou
  • A D Katsambas
  • H Gogas
  • I Spanos
  • G Dimisianos
  • D Polydorou
  • D Tsoutsos
  • V Nikolaou
  • D Lazaris
  • Th Karachalios
  • K Malizos
  • P Fytili
  • G Chouliaras
  • Dimitra Liapi
  • Danielle Prome
  • Helen Fryssira
  • Emmanuel Karavitakis
  • Sophia Kitsiou
  • Michael C Marden
  • Sotiris Giouroukos
  • Loretta Thomaidis
  • Evangelos Premetis

Detail Information

Publications43

  1. pmc Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype
    Carolina Sismani
    Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics Nicosia, Cyprus
    Mol Cytogenet 1:15. 2008
    ..In the sixth familial case, all carriers of the translocations had an abnormal phenotype...
  2. ncbi Preimplantation genetic diagnosis in 10 couples at risk for transmitting beta-thalassaemia major: clinical experience including the initiation of six singleton pregnancies
    E Kanavakis
    First Department of Pediatrics, Athens University, St Sophia s Children s Hospital, Greece
    Prenat Diagn 19:1217-22. 1999
    ..Three singleton pregnancies are still on-going and one ectopic pregnancy was terminated...
  3. ncbi Phenotypic and molecular diversity of haemoglobin H disease: a Greek experience
    E Kanavakis
    First Department Paediatrics, University of Athens, Greece
    Br J Haematol 111:915-23. 2000
    ..Together with the long-term follow-up in many patients, this report provides comprehensive information for management of Hb H disease and appropriate family counselling...
  4. pmc Preimplantation genetic diagnosis in clinical practice
    E Kanavakis
    Medical Genetics, University of Athens, Aghia Sophia Children s Hospital, Athens 11527, Greece
    J Med Genet 39:6-11. 2002
    ..Preimplantation genetic diagnosis (PGD) represents an alternative to prenatal diagnosis and allows selection of unaffected IVF embryos for establishing pregnancies in couples at risk for transmitting a genetic disorder...
  5. ncbi Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait
    Emmanuel Kanavakis
    Athens University, Aghia Sophia, Children s Hospital, Greece
    Dev Med Child Neurol 45:833-6. 2003
    ..An autosomal dominant mode of inheritance is suggested by the fact that both sexes are affected in two generations...
  6. ncbi Erythroid marrow activity and functional anemia in patients with the rare interaction of a single functional a-globin and beta-globin gene
    J Traeger-Synodinos
    Medical Genetics, Athens University, Aghia Sophia Children's Hospital, Athens, Greece
    Haematologica 86:363-7. 2001
    ..Significantly higher red cell 2,3-DPG levels were an unexpected finding, and the consequent increase in oxygen release capability resulted in a compensated functional anemia relative to hemoglobin levels...
  7. ncbi Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals
    E Kanavakis
    Medical Genetics, Athens University Cystic Fibrosis Unit, Aghia Sophia Children s Hospital, Athens, Greece
    Clin Genet 63:400-9. 2003
    ..Prenatal diagnosis was performed in 4 cases and 3 were counseled on the availability of a prenatal test...
  8. ncbi Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis
    M Tzetis
    Department of Medical Genetics, Medical School, Athens University, Athens, Greece
    Clin Genet 71:451-7. 2007
    ....
  9. ncbi Hb Sitia [beta128(H6)Ala-->Val]: an unstable variant with a substitution in the alpha1beta1 interface
    I Papassotiriou
    Department of Clinical Biochemistry, Aghia Sophia Children s Hospital, Athens, Greece
    Hemoglobin 25:45-56. 2001
    ..Since alanine at beta128(H6) interacts with several amino acids of the alpha1beta1 contact, its replacement by a larger residue results in a mild instability of the molecule and slight modifications of the oxygen binding properties...
  10. ncbi Rapid and accurate quantitation of Hb Bart's and Hb H using weak cation exchange high performance liquid chromatography: correlation with the alpha-thalassemia genotype
    I Papassotiriou
    Department of Clinical Biochemistry, Aghia Sophia, Children s Hospital, Athens, Greece
    Hemoglobin 23:203-11. 1999
    ..8-35%). Patients with nondeletional mutations (or association of alpha(0) deletion and nondeletional mutations) had notably higher Hb Bart's and Hb H levels when compared to patients with deletional genotypes...
  11. ncbi Steroid hormones polymorphisms and cholelithiasis in Greek population
    S Kitsiou-Tzeli
    Medical School, Department of Medical Genetics, Athens, University of Athens, Greece
    Liver Int 27:61-8. 2007
    ..Genetic variation in genes involved in steroid biosynthesis, metabolism and signal transduction have been suggested to play a role in gallstone disease...
  12. ncbi PGD for X-linked and gender-dependent disorders using a robust, flexible single-tube PCR protocol
    C Christofidou
    Department of Medical Genetics, Athens University, Aghia Sophia Children s Hospital, Athens, Greece
    Reprod Biomed Online 19:418-25. 2009
    ....
  13. ncbi Clinical manifestations in 17 Greek patients with Goldenhar syndrome
    V Touliatou
    Medical Genetics Laboratory, University of Athens, Aghia Sophia Children s Hospital, Greece
    Genet Couns 17:359-70. 2006
    ..Precise evaluation of GS patients and multidisciplinary care management is necessary to avoid possible complications of many systems and to offer appropriate genetic counselling to the family...
  14. ncbi An alpha-thalassemic hemoglobinopathy: homozygosity for the HB Agrinio alpha 2-globin chain variant
    J Traeger-Synodinos
    First Department of Pediatrics, University of Athens St Sophia s Children s Hospital, Greece
    Hemoglobin 22:209-15. 1998
    ....
  15. ncbi Gilbert syndrome associated with beta-thalassemia
    M Tzetis
    Medical Genetics, University of Athens, Aghia Sophia Children s Hospital, Greece
    Pediatr Hematol Oncol 18:477-84. 2001
    ..These results confirm that the (TA)7/(TA)7 GS genotype is one of the factors accounting for the hyperbilirubinemia observed in beta-thalassemia major, intermedia, and heterozygous individuals...
  16. ncbi Saethre-Chotzen syndrome with severe developmental delay associated with deletion of chromosomic region 7p15 --> pter
    V Touliatou
    Department of Medical Genetics, University of Athens, Choremio Research Laboratory, Aghia Sophia Children s Hospital, Athens, Greece
    Genet Couns 18:295-301. 2007
    ..The diagnosis of Saethre-Chotzen syndrome and the identification of the chromosomal abnormality in the patient facilitated genetic counseling of the family...
  17. ncbi Unilateral microtia in an infant with trisomy 18 mosaicism
    E Giannatou
    Department of Medical Genetics, Athens University, School of Medicine, Athens 11527, Greece
    Genet Couns 20:181-7. 2009
    ..Microtia/anotia is present in 1.46-4.36/10,000 live births in the general population while the combination of microtia/anotia with trisomy 18 has been reported in very few cases in the relevant bibliography...
  18. doi SMA prenatal diagnosis: a modified protocol to help differentiation between deletions and gene conversion
    K Kekou
    Department of Medical Genetics, Athens University, Aghia Sophia Children s Hospital, Hellas, Greece Electronic address
    Mol Cell Probes 29:71-3. 2015
    ..Application of a modified PCR procedure allowed discrimination between a deletion or a gene conversion event in a case of prenatal diagnosis. ..
  19. ncbi Impact of cytogenetic and molecular cytogenetic studies on hematologic malignancies
    A Kolialexi
    Medical Genetics, University of Athens School of Medicine, Athens, Greece
    Anticancer Res 25:2979-83. 2005
    ..Furthermore, multicolor FISH (SKY, M-FISH and CGH microarrays) combines the screening potential of cytogenetics with the accuracy of molecular genetics, allowing the visualization of the entire human genome in 24 different colors...
  20. ncbi Severe hypertriglyceridaemia in diabetic ketoacidosis: clinical and genetic study
    C Karagianni
    Second Department of Pediatrics, University of Athens, Athens, Greece
    Diabet Med 21:380-2. 2004
    ..Although these two mutations usually do not considerably impair lipolytic enzyme activity, the combination of both in this patient may play a role in the development of severe hypertriglyceridaemia...
  21. ncbi Asporin and knee osteoarthritis in patients of Greek origin
    M Kaliakatsos
    Department of Medical Genetics, Athens University, Aghia Sophia Children s Hospital, Athens, Greece
    Osteoarthritis Cartilage 14:609-11. 2006
    ..Genotyping Greek knee OA patients for the D repeats we determined that the D15 allele could be considered a risk allele for our population...
  22. ncbi Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene
    M Tzetis
    Department of Medical Genetics, Athens University, Aghia Sophia Children's Hospital, Thivon and Livadias, Athens, 11527, Greece
    Hum Genet 109:592-601. 2001
    ..Nonsense mutation E822X results in a severe reduction in mRNA levels to about 6% of wild type. Patients with the mutation have a severe clinical phenotype, with both the pancreatic and the pulmonary function affected...
  23. doi Mutation spectrum and phenotypic manifestation in FSHD Greek patients
    P Sakellariou
    Department of Medical Genetics, University of Athens, School of Medicine, Aghia Sophia Children s Hospital, Athens, Greece
    Neuromuscul Disord 22:339-49. 2012
    ....
  24. ncbi p53 codon 72 Pro homozygosity increases the risk of cutaneous melanoma in individuals with dark skin complexion and among noncarriers of melanocortin 1 receptor red hair variants
    I Stefanaki
    Department of Dermatology, University of Athens, A Sygros Hospital, Athens, Greece
    Br J Dermatol 156:357-62. 2007
    ..Numerous epidemiological studies have examined the role of this polymorphism in several human malignancies, including cutaneous cancers, with contradictory results...
  25. doi 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
    Sophia Kitsiou-Tzeli
    Department of Medical Genetics, Medical School, University of Athens, Athens, Greece
    Am J Med Genet A 152:1925-32. 2010
    ..Reporting of similar well-characterized clinical cases with clearly delineated breakpoints of the duplicated region will clarify the contribution of specific genes to the phenotype...
  26. ncbi Detection of 22q11.2 deletion among 139 patients with Di George/Velocardiofacial syndrome features
    S Kitsiou-Tzeli
    Medical Genetics, Athens University School of Medicine, Athens, Greece
    In Vivo 18:603-8. 2004
    ..Genetic reevaluation of 39 patients without the 22q11.2 deletion contributed to the classification of 14 (37%) under different syndromes, emphasizing the need for stricter referral criteria...
  27. ncbi CFTR gene mutations--including three novel nucleotide substitutions--and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease
    M Tzetis
    Department of Medical Genetics, Athens University, Aghia Sophia Children s Hospital, Thivon and Livadias, Greece
    Hum Genet 108:216-21. 2001
    ..01), and two COPD patients (P<0.05). These results confirm the involvement of the CFTR gene in asthma, DB and possibly in COPD...
  28. doi miR-15a and miR-24-1 as putative prognostic microRNA signatures for pediatric pilocytic astrocytomas and ependymomas
    M Braoudaki
    First Department of Pediatrics, National and Kapodistrian University of Athens, Choremeio Research Laboratory, Aghia Sophia Children s Hospital, Athens, Greece
    Tumour Biol 37:9887-97. 2016
    ....
  29. ncbi Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation
    Kathryn J Swoboda
    Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
    Ann Neurol 55:884-7. 2004
    ..Mutation analysis in classic sporadic AHC patients and in an additional five kindreds in which linkage to the ATP1A2 locus could not be excluded failed to identify additional mutations...
  30. ncbi Androgen insensitivity syndrome: clinical features and molecular defects
    Angeliki Galani
    Department of Medical Genetics, University of Athens, Athens, Greece
    Hormones (Athens) 7:217-29. 2008
    ..This review focuses on the clinical features and molecular pathophysiology of AIS and explores the relationship of the molecular defects in the AR gene to their clinical expression...
  31. ncbi Trigonocephaly and Wilson's disease in two siblings
    Ozgur Cogulu
    Department of Pediatrics, Ege University, Faculty of Medicine, Izmir, Turkey
    Clin Dysmorphol 14:161-4. 2005
    ..In addition, the female has renal agenesis and the male has a history of undescended testis. Karyotypes were normal and no mutation of the ATP7B gene has been identified in the patients or their parents...
  32. ncbi An evaluation of PGD in clinical genetic services through 3 years application for prevention of beta-thalassaemia major and sickle cell thalassaemia
    Joanne Traeger-Synodinos
    Medical Genetics, Athens University, Greece
    Mol Hum Reprod 9:301-7. 2003
    ..This report highlights advantages, limitations and approaches towards improvement when incorporating PGD within genetic services for a common recessive disease...
  33. ncbi Rapid screening of multiple beta-globin gene mutations by real-time PCR on the LightCycler: application to carrier screening and prenatal diagnosis of thalassemia syndromes
    Christina Vrettou
    Medical Genetics, Athens University, St Sophia s Children s Hospital, Athens 11527, Greece
    Clin Chem 49:769-76. 2003
    ..Hemoglobinopathies are priority genetic diseases for prevention programs. Rapid genotype characterization is fundamental in the diagnostic laboratory, especially when offering prenatal diagnosis for carrier couples...
  34. ncbi Multiplex sequence variation detection throughout the CFTR gene appropriate for preimplantation genetic diagnosis in populations with heterogeneity of cystic fibrosis mutations
    Christina Vrettou
    Medical Genetics, Athens University, Athens 11527, Greece
    Mol Hum Reprod 8:880-6. 2002
    ..This method proved robust and flexible for diagnosing diverse CF genotype combinations in single cells...
  35. ncbi Gilbert's syndrome as a predisposing factor for idiopathic cholelithiasis in children
    Sofia Kitsiou-Tzeli
    Haematologica 88:1193-4. 2003
    ..05) in a group of 30 children with cholelithiasis than in a control group of 40 healthy children, indicating that this genotype might be an underlying factor for gallstone initiation in otherwise healthy children...
  36. doi Rapid detection of fetal Mendelian disorders: thalassemia and sickle cell syndromes
    Joanne Traeger-Synodinos
    Department of Medical Genetics, National and Kapodistiran University of Athens, St Sophia s Children s Hospital, Athens, Greece
    Methods Mol Biol 444:133-45. 2008
    ..These assays are highly appropriate for rapid genotyping of parental and fetal DNA samples with respect to beta-thalassemia and sickle cell syndromes...
  37. ncbi A rare example that coinheritance of a severe form of beta-thalassemia and alpha-thalassemia interact in a "synergistic" manner to balance the phenotype of classic thalassemic syndromes
    Emmanuel Kanavakis
    Medical Genetics, Athens University, Athens, Greece
    Blood Cells Mol Dis 32:319-24. 2004
    ....
  38. ncbi 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
    Christina Vrettou
    Medical Genetics, Athens University, St Sophia s Children s Hospital, Athens, Greece
    Hum Mutat 23:513-21. 2004
    ..Overall, the protocol proved to be sensitive, accurate, reliable, rapid, and applicable for many genotype interactions, with internal monitoring of contamination, thus fulfilling all requirements for clinical PGD application...
  39. ncbi Clinical manifestations and molecular investigation of 50 patients with Williams syndrome in the Greek population
    Stella Amenta
    Medical Genetics, Athens University School of Medicine, Greece
    Pediatr Res 57:789-95. 2005
    ..The origin of deletions was more frequently maternal (59%), and a more severe phenotype seemed to be associated with those deletions. This is the first report on WS patients in the Greek population...
  40. ncbi The homozygous state for Hb Crete [beta129 (H7) Ala-->Pro] is associated with a complex phenotype including erythrocytosis and functional anemia
    Ioannis Papassotiriou
    Department of Clinical Biochemistry, Aghia Sophia Children s Hospital, 115 27 Athens, Greece
    Blood Cells Mol Dis 34:229-34. 2005
    ..The structural change in Hb Crete only partly explains all the pathological manifestations of this variant, and other mechanisms are discussed...
  41. ncbi Short stature and dysmorphology associated with defects in the SHOX gene
    Sofia K Leka
    Horemis Research Laboratory, Department of Medical Genetics, Athens University School of Medicine, Aghia Sofia Children s Hospital, Athens, Greece
    Hormones (Athens) 5:107-18. 2006
    ..Functional ongoing studies are expected to improve our understanding of the SHOX gene as comprising part of a genetic process responsible for normal growth and bone development...
  42. ncbi Rare thalassemic syndrome caused by interaction of Hb Questembert (alpha1 codon 131, TCT>CCT, Ser>Pro) with an alpha-thalassemia-2 deletion: implications for diagnosis and management
    Alexandra Stamoulakatou
    Hematology Laboratory, Aghia Sophia Children s Hospital, Athens, Greece
    Blood Cells Mol Dis 32:118-23. 2004
    ..There is minimal experience for the management of such atypical cases and this case illustrates that it is probably insufficient to monitor clinical status in patients with such hemoglobinopathies based only on the levels of hemoglobin...
  43. ncbi Distal del(4) (q33) syndrome: detailed clinical presentation and molecular description with array-CGH
    Sofia Kitsiou-Tzeli
    Department of Medical Genetics, University of Athens, Athens, Greece
    Eur J Med Genet 51:61-7. 2008
    ....