Dorota Jurkiewicz

Summary

Affiliation: The Children's Memorial Health Institute
Country: Poland

Publications

  1. pmc Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome
    Dorota Jurkiewicz
    Department of Medical Genetics, The Children s Memorial Health Institute, Al Dzieci Polskich 20, 04 730, Warsaw, Poland
    J Appl Genet 55:329-36. 2014
  2. doi request reprint Four novel RSK2 mutations in females with Coffin-Lowry syndrome
    Dorota Jurkiewicz
    Children s Memorial Health Institute, Department of Medical Genetics, Warsaw, Poland
    Eur J Med Genet 53:268-73. 2010
  3. doi request reprint A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland
    Dorota Piekutowska-Abramczuk
    Department of Medical Genetics, Children s Memorial Health Institute, Al Dzieci Polskich 20, 04 730 Warsaw, Poland
    J Inherit Metab Dis 33:S373-7. 2010
  4. doi request reprint 11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency
    Dorota Jurkiewicz
    Department of Medical Genetics, Children s Memorial Health Institute, Warsaw, Poland
    Pediatr Int 57:486-91. 2015
  5. ncbi request reprint Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients
    Dorota Jurkiewicz
    Children s Memorial Health Institute, Department of Medical Genetics, Warsaw, Poland
    Hum Mutat 25:321. 2005
  6. doi request reprint Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene
    Elzbieta Ciara
    Department of Medical Genetics, The Children s Memorial Health Institute, Warsaw, Poland
    Eur J Med Genet 58:14-20. 2015

Collaborators

Detail Information

Publications6

  1. pmc Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome
    Dorota Jurkiewicz
    Department of Medical Genetics, The Children s Memorial Health Institute, Al Dzieci Polskich 20, 04 730, Warsaw, Poland
    J Appl Genet 55:329-36. 2014
    ..However, the distribution of mutations seen in this cohort was not substantively different than the mutation distribution in other reported populations...
  2. doi request reprint Four novel RSK2 mutations in females with Coffin-Lowry syndrome
    Dorota Jurkiewicz
    Children s Memorial Health Institute, Department of Medical Genetics, Warsaw, Poland
    Eur J Med Genet 53:268-73. 2010
    ..These results support including screening for large rearragements in the genetic analysis of female CLS patients...
  3. doi request reprint A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland
    Dorota Piekutowska-Abramczuk
    Department of Medical Genetics, Children s Memorial Health Institute, Al Dzieci Polskich 20, 04 730 Warsaw, Poland
    J Inherit Metab Dis 33:S373-7. 2010
    ..Our data allow us to suggest a probable Kashubian origin of the prevalent c.1528G>C mutation. ..
  4. doi request reprint 11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency
    Dorota Jurkiewicz
    Department of Medical Genetics, Children s Memorial Health Institute, Warsaw, Poland
    Pediatr Int 57:486-91. 2015
    ..4p15.5 duplication associated with deletion of 13q34 and FVII deficiency. Moreover, this report emphasizes the importance of detailed clinical as well as molecular examinations in patients with BWS features and developmental delay. ..
  5. ncbi request reprint Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients
    Dorota Jurkiewicz
    Children s Memorial Health Institute, Department of Medical Genetics, Warsaw, Poland
    Hum Mutat 25:321. 2005
    ..Family studies revealed that the specific mutations were inherited in 3 out of 11 investigated cases. No correlation between genotype and phenotype was observed...
  6. doi request reprint Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene
    Elzbieta Ciara
    Department of Medical Genetics, The Children s Memorial Health Institute, Warsaw, Poland
    Eur J Med Genet 58:14-20. 2015
    ..We documented three novel mutations in the BRAF gene and correlated clinical findings with causative mutations in the BRAF or MEK1/MEK2 genes. ..