Search filters

Authors whose works are in public domain in at least one jurisdiction

List of works by Malgorzata Srebniak

0.5 Mb array as a first-line prenatal cytogenetic test in cases without ultrasound abnormalities and its implementation in clinical practice

scientific article published on 06 June 2013

A familial deletion of 16q21 characterized by an SNP array and associated with a normal phenotype

scientific article published on 30 April 2013

Abnormal non-invasive prenatal test results concordant with karyotype of cytotrophoblast but not reflecting abnormal fetal karyotype

scientific article published on June 2014

Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature ⬇️

scientific article published on February 1, 2014

An incomplete trisomy 3 rescue resulting in a marker chromosome and UPD(3)--difficulties in interpretation

scientific article published on 01 October 2008

Another Rare Prenatal Case of Post-Zygotic Mosaic Trisomy 17

scientific article published on 20 March 2013

Another rare case of a child with de novo terminal 9p deletion and co-existing interstitial 9p duplication: clinical findings and molecular cytogenetic study by array-CGH.

scientific article published on 5 September 2012

Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow

scientific article published on 22 June 2011

Benefits and burdens of using a SNP array in pregnancies at increased risk for the common aneuploidies

scientific article published on 01 March 2015

Cellular toxicity of oxycholesterols.

scientific article

Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing

scientific article published in 2023

Clinical experience of unexpected findings in prenatal array testing

scientific article published on 14 July 2016

Cytogenetic analysis of an asymmetric potato hybrid

scientific article published on 01 January 2002

Cytogenetic confirmation of a positive NIPT result: evidence-based choice between chorionic villus sampling and amniocentesis depending on chromosome aberration.

scientific article published on 10 February 2016

Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism ⬇️

scientific article published on August 5, 2013

Does non‐invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population‐based register study

scientific article published in 2021

Enlarged NT (≥3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPT.

scientific article published on 07 September 2016

Estimates of live birth prevalence of children with Down syndrome in the period 1991-2015 in the Netherlands.

scientific article published on 5 March 2017

False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review

scientific article

Frequency of submicroscopic chromosome aberrations in pregnancies without increased risk for structural chromosome aberrations: a systematic review of literature and meta-analysis.

scientific article published on 27 May 2017

Genetic characterization of Polish ccRCC patients: somatic mutation analysis of PBRM1, BAP1 and KDMC5, genomic SNP array analysis in tumor biopsy and preliminary results of chromosome aberrations analysis in plasma cell free DNA

scientific article

Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities.

scientific article published on 13 March 2012

Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?

scientific article published on 02 June 2016

Is it feasible to select fetuses for prenatal WES based on the prenatal phenotype?

scientific article published on 10 September 2019

Is prenatal cytogenetic diagnosis with genomic array indicated in pregnancies at risk for a molecular or metabolic disorder?

scientific article

Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis ⬇️

scientific article published on January 14, 2011

Non-invasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast

scientific article published on 13 June 2020

Non‐invasive prenatal diagnosis for translocation carriers—YES please or NO go?

scientific article published in 2021

Patient-friendly integrated first trimester screening by NIPT and fetal anomaly scan

scientific article published in 2021

Phenotypic variability of atypical 22q11.2 deletions not including TBX1

scientific article published on 14 August 2012

Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype

scientific article published on 13 August 2019

Pregnant couples at increased risk for common aneuploidies choose maximal information from invasive genetic testing

scientific article published on 28 October 2014

Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs

scientific article published on 02 September 2015

Prenatal and postnatal findings in small-for-gestational-age fetuses without structural ultrasound anomalies at 18-24 weeks.

scientific article

Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders - genetic counseling and pregnancy outcome in 57 cases.

scientific article

Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS.

scientific article

Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect

scientific article published on 2 December 2011

SNP array detects chromosome aberrations that we thought do not exist: the first case of an isochromosome Xp (i(X)(p10))

scientific article published on 27 April 2014

Social and medical need for whole genome high resolution NIPT

scientific article published on 01 December 2019

Subfertile couple with inv(2),inv(9) and 16qh+

scientific article published on 01 January 2004

Subfertile couple with t(4;22)(q23;q11.2)

scientific article published on 01 January 2005

The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents' Experiences.

scientific article published on 25 May 2016

The first de novo non-mosaic 14q11.2q13.1 tetrasomy of paternal origin

scientific article published on 20 January 2016

The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies

scientific article published on 14 April 2017

The influence of calyculin A on lymphocytes in vitro

scientific article published on 01 January 2003

The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies

scientific article published on 29 November 2020

The usefulness of calyculin a for cytogenetic prenatal diagnosis.

scientific article

Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification

scientific article published on 6 November 2013

Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?

scientific article published on 27 September 2018

Whole-genome array as a first-line cytogenetic test in prenatal diagnosis

scientific article published on 01 April 2015

[Chromosome instability syndromes]

scientific article published on 01 May 2006

Paulina is supported by:

About Paulina

Help