B Nowakowska

Summary

Affiliation: Instytut Matki i Dziecka
Country: Poland

Publications

  1. ncbi A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH
    Beata Nowakowska
    Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
    Am J Med Genet A 143:1885-9. 2007
  2. ncbi Application of metaphase HR-CGH and targeted Chromosomal Microarray Analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features
    B Nowakowska
    Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
    Am J Med Genet A 146:2361-9. 2008
  3. ncbi Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections
    M Smyk
    Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
    Am J Med Genet B Neuropsychiatr Genet 147:799-806. 2008
  4. ncbi Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father
    M Smyk
    Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
    Am J Med Genet A 143:866-70. 2007

Collaborators

Detail Information

Publications4

  1. ncbi A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH
    Beata Nowakowska
    Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
    Am J Med Genet A 143:1885-9. 2007
    ..Our data confirm the previous observations that application of the whole genome array-CGH should be considered in selected patients with undiagnosed MR and dysmorphic features...
  2. ncbi Application of metaphase HR-CGH and targeted Chromosomal Microarray Analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features
    B Nowakowska
    Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
    Am J Med Genet A 146:2361-9. 2008
    ..Additionally, application of both methods together increased the detection rates of genomic imbalances in the tested groups...
  3. ncbi Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections
    M Smyk
    Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
    Am J Med Genet B Neuropsychiatr Genet 147:799-806. 2008
    ..Our data confirm previous observations that MECP2 is the most important dosage-sensitive gene responsible for neurologic development in patients with duplications on the distal part of chromosome Xq...
  4. ncbi Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father
    M Smyk
    Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
    Am J Med Genet A 143:866-70. 2007
    ..Our findings confirm the utility of aCGH and indicate that for a more accurate estimate of the recurrence risk for a completely penetrant autosomal dominant disorder, parental somatic mosaicism should be considered in healthy parents...