Malgorzata Srebniak

Summary

Affiliation: Erasmus MC
Country: The Netherlands

Publications

  1. doi request reprint 0.5 Mb array as a first-line prenatal cytogenetic test in cases without ultrasound abnormalities and its implementation in clinical practice
    Malgorzata I Srebniak
    Department of Clinical Genetics, Erasmus MC, Rotterdam 3015GE, The Netherlands
    Hum Mutat 34:1298-303. 2013
  2. pmc Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow
    Malgorzata Srebniak
    Department of Clinical Genetics, Erasmus Medical Center, Dr Molewaterplein 50, Rotterdam, The Netherlands
    Eur J Hum Genet 19:1230-7. 2011
  3. pmc Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities
    Malgorzata I Srebniak
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Mol Cytogenet 5:14. 2012
  4. pmc Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect
    Malgorzata I Srebniak
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Dr Molewaterplein 50, 3015 GE, The Netherlands
    Mol Cytogenet 4:27. 2011
  5. pmc Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis
    Diane Van Opstal
    Department of Clinical Genetics, Erasmus Medical Centre, PO Box 2040, 3000 CA Rotterdam, The Netherlands
    Mol Cytogenet 4:2. 2011

Collaborators

Detail Information

Publications5

  1. doi request reprint 0.5 Mb array as a first-line prenatal cytogenetic test in cases without ultrasound abnormalities and its implementation in clinical practice
    Malgorzata I Srebniak
    Department of Clinical Genetics, Erasmus MC, Rotterdam 3015GE, The Netherlands
    Hum Mutat 34:1298-303. 2013
    ..In cases of fetal ultrasound abnormalities or intrauterine fetal death (IUFD), high-resolution analysis should be done. In other cases, we advise replacing karyotyping by SNP array analysis with 0.5 Mb resolution...
  2. pmc Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow
    Malgorzata Srebniak
    Department of Clinical Genetics, Erasmus Medical Center, Dr Molewaterplein 50, Rotterdam, The Netherlands
    Eur J Hum Genet 19:1230-7. 2011
    ..The latter issue regarding the right of the future child itself to decide whether or not to know this information needs to be addressed...
  3. pmc Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities
    Malgorzata I Srebniak
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Mol Cytogenet 5:14. 2012
    ....
  4. pmc Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect
    Malgorzata I Srebniak
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Dr Molewaterplein 50, 3015 GE, The Netherlands
    Mol Cytogenet 4:27. 2011
    ..We used the HumanCytoSNP-12 array of Illumina to visualize the CNVs and map the breakpoints. CONCLUSIONS: We suggest that a CNV at 18p11.32 (528,050-2,337,486) may represent a new benign euchromatic variant...
  5. pmc Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis
    Diane Van Opstal
    Department of Clinical Genetics, Erasmus Medical Centre, PO Box 2040, 3000 CA Rotterdam, The Netherlands
    Mol Cytogenet 4:2. 2011
    ..abstract:..