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Michael Bjorn Petersen

Short CV

1983 University of Copenhagen, Medical School
1992 University of Copenhagen, PhD on a linkage map of human chromosome 21
1996 University of Copenhagen, DMSc on polymorphisms on human chromosome 21 and their use in the study of Down syndrome
Training in cytogenetics (The John F. Kennedy Institute, Glostrup, Denmark) and molecular genetics (The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Since 1993 Director of Department of Genetics, Institute of Child Health, Athens, Greece.
Medical specialty: Clinical genetics.
More than 150 publications in PubMed.

Scientifc Interest

  • Monogenic eye disorders.
  • Genetics of deafness.
  • Mechanisms of chromosomal aneuploidies.
  • Genetic association studies in common disorders.

Further Activities

  • Genetic counselling
  • Syndromology

Memberships

  • European Society of Human Genetics
  • American Society of Human Genetics
  • Human Genome Organization (HUGO)

Research Group

Department of Genetics

Contact

“Aghia Sophia” Children’s Hospital

Department of Genetics
Institute of Child Health

Thivon & Livadeias
Doxiadis Building
GR-11527 Athens
Greece

Phone: +30 210 7467789
Fax: +30 210 7700111

Email:
mpetersen[at]ich.gr

Website:
www.ich.gr

Key Publications

  1. Bugiani M, Gyftodimou Y, Tsimpouka P, Lamantea E, Katzaki E, d’Adamo P, Nakou S, Georgoudi N, Grigoriadou M, Tsina E, Kabolis N, Milani D, Pandelia E, Kokotas H, Gasparini P, Giannoulia-Karantana A, Renieri A, Zeviani M, Petersen MB.
    Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.
    Am J Med Genet 2008;146A:2221-2226.
  2. Wirtz MK, Konstas AG, Samples JR, Kaltsos K, Economou A, Dimopoulos A, Georgiadou I, Petersen MB.
    Myocilin variations and familial glaucoma in Taxiarchis, a small Greek village.
    Mol Vis 2008;14:774-781.
  3. Hewitt AW, Samples JR, Allingham RR, Jarvela I, Kitsos G, Krishnadas SR, Richards JE, Lichter PR, Petersen MB, Sundaresan P, Wiggs JL, Mackey DA, Wirtz MK.
    Investigation of founder effects for the Thr377Met myocilin mutation in glaucoma families from differing ethnic backgrounds.
    Mol Vis 2007;13:487-492.
  4. Yang Z, Kitsos G, Tong Z, Payne M, Gorezis S, Psilas K, Grigoriadou M, Zhao Y, Kamaya S, Aperis G, Petersen MB, Zhang K.
    A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family.
    J Med Genet 2006;43:e57.
  5. Petersen MB, Kitsos G, Samples JR, Gaudette ND, Economou-Petersen E, Sykes R, Rust K, Grigoriadou M, Aperis G, Choi D, Psilas K, Craig JE, Kramer PL, Mackey DA, Wirtz MK.
    A large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variability.
    Invest Ophthalmol Vis Sci 2006;47:620-625.
  6. Samples JR, Kitsos G, Economou-Petersen E, Steinkamp P, Sykes R, Rust K, Patzer C, Grigoriadou M, Aperis G, Psilas K, Petersen MB, Wirtz MK.
    Refining the primary open-angle glaucoma GLC1C region on chromosome 3 by haplotype analysis.
    Clin Genet 2004;65:40-44.
  7. Kitsos G, Eiberg H, Economou-Petersen E, Wirtz MK, Kramer PL, Aspiotis M, Tommerup N, Petersen MB, Psilas K.
    Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree.
    Eur J Hum Genet 2001;9:452-457.
  8. Kitsos G, Eiberg H, Economou-Petersen E, Wirtz MK, Kramer PL, Aspiotis M, Tommerup N, Petersen MB, Psilas K.
    Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree.
    Eur J Hum Genet 2001;9:452-457.

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