Anna Wawrocka

Summary

Publications

  1. pmc 11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia
    Anna Wawrocka
    Poznan University of Medical Sciences, 60 352, Poznan, Poland
    J Appl Genet 54:345-51. 2013
  2. doi request reprint PAX6 3' deletion in a family with aniridia
    Anna Wawrocka
    Department of Medical Genetics, Poznan University of Medical Science, Poznan, Poland
    Ophthalmic Genet 33:44-8. 2012
  3. pmc Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)
    Anna Skorczyk-Werner
    Department of Medical Genetics, Poznan University of Medical Sciences, 8, Rokietnicka Street, 60 806, Poznan, Poland
    J Appl Genet 56:317-27. 2015
  4. pmc Five novel CNGB3 gene mutations in Polish patients with achromatopsia
    Anna Wawrocka
    Chair and Department of Medical Genetics, Poznan University of Medical Science, Poland
    Mol Vis 20:1732-9. 2014
  5. doi request reprint Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome
    Magdalena Badura-Stronka
    Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland Center for Medical Genetics GENESIS, Poznan, Poland Electronic address
    Mitochondrion 13:831-4. 2013

Collaborators

Detail Information

Publications5

  1. pmc 11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia
    Anna Wawrocka
    Poznan University of Medical Sciences, 60 352, Poznan, Poland
    J Appl Genet 54:345-51. 2013
    ..It varies from point mutations to different size deletions in the 11p13 region which encompass partly or completely the PAX6 gene or cause a position effect. ..
  2. doi request reprint PAX6 3' deletion in a family with aniridia
    Anna Wawrocka
    Department of Medical Genetics, Poznan University of Medical Science, Poznan, Poland
    Ophthalmic Genet 33:44-8. 2012
    ..In the majority of cases the disease is caused by mutation in the PAX6 gene...
  3. pmc Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)
    Anna Skorczyk-Werner
    Department of Medical Genetics, Poznan University of Medical Sciences, 8, Rokietnicka Street, 60 806, Poznan, Poland
    J Appl Genet 56:317-27. 2015
    ..The location of this substitution, together with its predicted influence on the protein function, indicate that the p.Tyr175Phe mutation is the cause of FA in our patient...
  4. pmc Five novel CNGB3 gene mutations in Polish patients with achromatopsia
    Anna Wawrocka
    Chair and Department of Medical Genetics, Poznan University of Medical Science, Poland
    Mol Vis 20:1732-9. 2014
    ..To identify the genetic basis of achromatopsia (ACHM) in four patients from four unrelated Polish families...
  5. doi request reprint Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome
    Magdalena Badura-Stronka
    Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland Center for Medical Genetics GENESIS, Poznan, Poland Electronic address
    Mitochondrion 13:831-4. 2013
    ....