Lista de obras - Malgorzata Srebniak - Dominio Público Uruguay

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

artículo científico publicado en 2013

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

artículo científico publicado en 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 ⬇️

artículo científico publicado el 1 de febrero de 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

artículo científico publicado en 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.

artículo científico publicado en 2012

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

artículo científico publicado en 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.

artículo científico publicado en 2006

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.

artículo científico publicado en 2016

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

artículo científico publicado el 5 de agosto de 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2019

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

artículo científico publicado en 2015

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

artículo científico publicado el 14 de enero de 2011

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

Social and medical need for whole genome high resolution NIPT

artículo científico publicado en 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)

artículo científico publicado en 2005

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2020

The usefulness of calyculin a for cytogenetic prenatal diagnosis.

artículo científico publicado en 2005

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

artículo científico publicado en 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

artículo científico publicado en 2015

[Chromosome instability syndromes]

artículo científico publicado en 2006

Lista de obras de Malgorzata Srebniak

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

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

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

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

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

Another Rare Prenatal Case of Post-Zygotic Mosaic Trisomy 17

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.

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

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

Cellular toxicity of oxycholesterols.

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

Clinical experience of unexpected findings in prenatal array testing

Cytogenetic analysis of an asymmetric potato hybrid

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Social and medical need for whole genome high resolution NIPT

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

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

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

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

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

The influence of calyculin A on lymphocytes in vitro

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

The usefulness of calyculin a for cytogenetic prenatal diagnosis.

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

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

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

[Chromosome instability syndromes]