H Kokotas

Summary

Affiliation: University of Athens
Country: Greece

Publications

  1. doi Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history?
    Haris Kokotas
    Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Genet Test Mol Biomarkers 14:183-7. 2010
  2. pmc Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy
    Emmanouil Manolakos
    Bioiatriki S, A, Laboratory of Genetics, Athens, Greece
    Mol Cytogenet 4:6. 2011
  3. doi Erythrokeratodermia variabilis: report of two cases and a novel missense variant in GJB4 encoding connexin 30.3
    Haris Kokotas
    Department of Genetics, Aghia Sophia Children s Hospital, Athens, Greece
    Eur J Dermatol 22:182-6. 2012
  4. ncbi Biomarkers in primary open angle glaucoma
    Haris Kokotas
    Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Clin Chem Lab Med 50:2107-19. 2012
  5. pmc Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report
    Emmanouil Manolakos
    Genomedica SA, Piraeus, Greece
    Mol Cytogenet 1:24. 2008
  6. doi Detection of deafness-causing mutations in the Greek mitochondrial genome
    Haris Kokotas
    Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Dis Markers 30:283-9. 2011
  7. doi Age-related macular degeneration: genetic and clinical findings
    Haris Kokotas
    Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Clin Chem Lab Med 49:601-16. 2011
  8. doi Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss
    Haris Kokotas
    Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Int J Pediatr Otorhinolaryngol 75:89-94. 2011
  9. doi Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?
    Haris Kokotas
    Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    J Hum Genet 55:265-9. 2010
  10. doi Clinical and molecular aspects of aniridia
    H Kokotas
    Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Clin Genet 77:409-20. 2010

Collaborators

Detail Information

Publications16

  1. doi Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history?
    Haris Kokotas
    Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Genet Test Mol Biomarkers 14:183-7. 2010
    ....
  2. pmc Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy
    Emmanouil Manolakos
    Bioiatriki S, A, Laboratory of Genetics, Athens, Greece
    Mol Cytogenet 4:6. 2011
    ..The present case further demonstrates how molecular cytogenetic techniques applied in the parents were necessary for the genetic counseling of the family...
  3. doi Erythrokeratodermia variabilis: report of two cases and a novel missense variant in GJB4 encoding connexin 30.3
    Haris Kokotas
    Department of Genetics, Aghia Sophia Children s Hospital, Athens, Greece
    Eur J Dermatol 22:182-6. 2012
    ..The substitution was found to result in a p.E99K change of the Cx30.3 protein, an alteration predicted to have a benign rather than a damaging effect on the protein function...
  4. ncbi Biomarkers in primary open angle glaucoma
    Haris Kokotas
    Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Clin Chem Lab Med 50:2107-19. 2012
    ..The purpose of this study was to summarize the current knowledge regarding the non-genetic molecular markers which have been predicted to have an association with POAG but have not yet been validated...
  5. pmc Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report
    Emmanouil Manolakos
    Genomedica SA, Piraeus, Greece
    Mol Cytogenet 1:24. 2008
    ..32-qter) in the one chromosome 18, but furthermore revealed the presence of a duplication in q21.2 in the other chromosome 18. The case is discussed concerning comparable previously reported cases and the possible mechanisms of formation...
  6. doi Detection of deafness-causing mutations in the Greek mitochondrial genome
    Haris Kokotas
    Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Dis Markers 30:283-9. 2011
    ..Our findings strongly support our previously raised conclusion that mtDNA mutations are not a major risk factor for sensorineural deafness in the Greek population...
  7. doi Age-related macular degeneration: genetic and clinical findings
    Haris Kokotas
    Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Clin Chem Lab Med 49:601-16. 2011
    ..Here, we review the clinical aspects of AMD and summarize the genes which have been reported to have a positive association with the disease...
  8. doi Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss
    Haris Kokotas
    Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Int J Pediatr Otorhinolaryngol 75:89-94. 2011
    ..The G7444A mitochondrial DNA mutation affects COI/the precursor of tRNA(Ser(UCN)), encoding the first subunit of cytochrome oxidase. Here we report on the first Greek family with the G7444A mitochondrial DNA mutation...
  9. doi Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?
    Haris Kokotas
    Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    J Hum Genet 55:265-9. 2010
    ..Here we summarize evidence regarding modifying genes, and we discuss the effect of the coexistence of mitochondrial and GJB2 mutations in families reported to date...
  10. doi Clinical and molecular aspects of aniridia
    H Kokotas
    Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Clin Genet 77:409-20. 2010
    ..Here we review the data regarding the mechanisms and the mutations that relate to aniridia...
  11. doi Easy, rapid, and cost-effective methods for identifying carriers of recurrent GJB2 mutations causing nonsyndromic hearing impairment in the Greek population
    Haris Kokotas
    Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Genet Test Mol Biomarkers 14:189-92. 2010
    ..Developing easy, rapid, and cost-effective screening methods will facilitate the detection of GJB2 recurrent mutation carriers, at large, in the Greek population...
  12. doi The A1555G mitochondrial DNA mutation in Greek patients with non-syndromic, sensorineural hearing loss
    Haris Kokotas
    Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, Athens 11527, Greece
    Biochem Biophys Res Commun 390:755-7. 2009
    ..One of the cases was also found heterozygous for the frequent GJB2 35delG mutation, while the other case was negative. The A1555G mutation seems to be less common than in other European populations...
  13. doi Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population
    Haris Kokotas
    Department of Genetics, Institute of Child Health, Athens, Greece
    Am J Med Genet A 146:2879-84. 2008
    ..A strong linkage disequilibrium was found between the 35delG mutation and markers inside or flanking the GJB2 gene. Furthermore, we found a common haplotype with a previous study, suggesting a common founder for the 35delG mutation...
  14. ncbi Mitochondrial deafness
    H Kokotas
    Department of Genetics, Institute of Child Health, Athens, Greece
    Clin Genet 71:379-91. 2007
    ..This study reviews the different mitochondrial mutations, leading to syndromic and especially non-syndromic deafness...
  15. doi Investigating the impact of the Down syndrome related common MTHFR 677C>T polymorphism in the Danish population
    Haris Kokotas
    Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Dis Markers 27:279-85. 2009
    ....
  16. doi Sudden hearing loss in a family with GJB2 related progressive deafness
    Haris Kokotas
    Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, Thivon and Levadias, 115 27 Athens, Greece
    Int J Pediatr Otorhinolaryngol 72:1735-40. 2008
    ..We report an unusual family with four 35delG homozygous members, in which the parents were deaf-mute whilst both children had a postlingual progressive hearing loss. Furthermore, the son suffered from sudden hearing loss...