I Dimeo

Summary

Affiliation: The Cyprus Institute of Neurology and Genetics
Country: Cyprus

Publications

  1. ncbi Molecular characterization of G6PD deficiency in Cyprus
    Anthi Drousiotou
    Department of Biochemical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Blood Cells Mol Dis 33:25-30. 2004
  2. ncbi Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches
    A Drousiotou
    Department of Biochemical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Clin Genet 79:385-90. 2011
  3. ncbi Hb Agrinio [alpha29(B10)Le-->uPro (alpha2)] in combination with --(MED I). Results in a severe form of Hb H disease
    Xenia Felekis
    The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Hemoglobin 32:237-46. 2008
  4. ncbi Evidence for balancing selection from nucleotide sequence analyses of human G6PD
    Brian C Verrelli
    Department of Biology, University of Maryland, College Park, MD 20742, USA
    Am J Hum Genet 71:1112-28. 2002
  5. ncbi Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis
    Aithala Gururaj
    Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University and Tawam Hospital, Al Ain, UAE
    J Child Neurol 20:57-60. 2005
  6. ncbi The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village
    Theodoros Georgiou
    Department of Biochemical Genetics, Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus
    Genet Test 9:126-32. 2005
  7. ncbi The cypriot and Iranian National Mutation Frequency Databases
    Marina Kleanthous
    The Cyprus Institute of Neurology and Genetics, Department of Molecular Genetics, Social Welfare and Rehabilitation Sciences University, Tehran, Iran
    Hum Mutat 27:598-9. 2006

Collaborators

  • Sarah A Tishkoff
  • Hossein Najmabadi
  • George P Patrinos
  • G Argyropoulos
  • Anthi Drousiotou
  • Marina Kleanthous
  • Theodoros Georgiou
  • A Drousiotou
  • Brian C Verrelli
  • Xenia Felekis
  • Aithala Gururaj
  • Yvan Campos
  • Jacques Loiselet
  • Th Georgiou
  • V Tiranti
  • R Mineri
  • G Stylianidou
  • Eleni Kalogerou
  • George Christopoulos
  • Kyriakos Kyriakou
  • Marios Phylactides
  • Andreani Kyrri
  • Sotiroulla Christou
  • Mehdi Motazacker
  • Babak Moghimi
  • Marios Cariolou
  • Farzin Pourfarzad
  • Sjozef van Baal
  • Constantinos Deltas
  • Kyproula Christodoulou
  • Kimia Khrizi
  • Philippos C Patsalis
  • Erol Baysal
  • Anna Caciotti
  • ALESSANDRA D'AZZO
  • Enrico Zammarchi
  • Josef Hertecant
  • Laszlo Sztriha
  • Amelia Morrone
  • Violetta Anastasiadou
  • Goula Stylianidou
  • Johan G Johansen
  • Nicoletta Andreou
  • Michalis Angastiniotis
  • Elias H Touma
  • Ahmed N Helal
  • Gerard Lefranc
  • Giovanni Destro-Bisol
  • Alain Froment
  • John H McDonald

Detail Information

Publications7

  1. ncbi Molecular characterization of G6PD deficiency in Cyprus
    Anthi Drousiotou
    Department of Biochemical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Blood Cells Mol Dis 33:25-30. 2004
    ....
  2. ncbi Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches
    A Drousiotou
    Department of Biochemical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Clin Genet 79:385-90. 2011
    ..A prenatal diagnosis was performed for the second family using qRT-PCR, thus establishing the usefulness of RT-PCR in prenatal diagnosis...
  3. ncbi Hb Agrinio [alpha29(B10)Le-->uPro (alpha2)] in combination with --(MED I). Results in a severe form of Hb H disease
    Xenia Felekis
    The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Hemoglobin 32:237-46. 2008
    ..Two homozygotes, as well as a number of simple, compound, and double heterozygotes for Hb Agrinio have been identified in Cyprus and their hematological indices are presented...
  4. ncbi Evidence for balancing selection from nucleotide sequence analyses of human G6PD
    Brian C Verrelli
    Department of Biology, University of Maryland, College Park, MD 20742, USA
    Am J Hum Genet 71:1112-28. 2002
    ..The present study demonstrates that nucleotide sequence analyses can reveal signatures of both historical and recent selection in the genome and may elucidate the impact that infectious disease has had during human evolution...
  5. ncbi Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis
    Aithala Gururaj
    Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University and Tawam Hospital, Al Ain, UAE
    J Child Neurol 20:57-60. 2005
    ..Their mutation analysis showed two novel mutations, which have not been described in an Arabic population...
  6. ncbi The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village
    Theodoros Georgiou
    Department of Biochemical Genetics, Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus
    Genet Test 9:126-32. 2005
    ..Our results indicate that the c.1445G>A mutation, which appears to be responsible for all GM1 gangliosidosis alleles in this Cypriot village, affects protein conformation...
  7. ncbi The cypriot and Iranian National Mutation Frequency Databases
    Marina Kleanthous
    The Cyprus Institute of Neurology and Genetics, Department of Molecular Genetics, Social Welfare and Rehabilitation Sciences University, Tehran, Iran
    Hum Mutat 27:598-9. 2006
    ....