List of works - Agnieszka Stembalska

A common nonsense mutation of the BLM gene and prostate cancer risk and survival

scientific article published on 2 October 2013

Analysis of adaptive response to bleomycin and mitomycin C

Cancer stem cells: the theory and perspectives in cancer therapy.

scientific article published on January 2008

Clinical Observation of a Child with Prenatally Diagnosed De Novo Partial Trisomy of Chromosome 20

scientific article published on 20 March 2019

Coexistent chronic myelogenous leukemia with squamous cell carcinoma of the larynx associated with NOD2/CARD15 mutation in a young adult

scientific article published on June 2016

Correlation among loss of heterozygosity, promoter methylation and protein expression of MLH1 in larynx cancer.

scientific article published on March 2004

Cri du chat syndrome determined by the 5p15.3-->pter deletion--diagnostic problems.

scientific article published on 6 July 2005

Cyclin D1 and MLH1 levels in laryngeal cancer are linked to chromosomal imbalance.

scientific article published in November 2006

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement

article

Epigenetic control of E-cadherin (CDH1) by CpG methylation in metastasising laryngeal cancer.

scientific article published in March 2003

Exonic deletions in the NF1 gene in patients with neurofibromatosis type I from the lower Silesian region of Poland.

scientific article

Fragile X syndrome in females - a familial case report and review of the literature

scientific article published on January 2016

Genetic variants in ATM, H2AFX and MRE11 genes and susceptibility to breast cancer in the polish population.

scientific article published on 20 April 2018

Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study)

scientific article published on 13 December 2005

Global DNA methylation status in laryngeal cancer

scientific article published on 01 June 2013

Hexasomy 13q31.3q34 due to two marker chromosomes with inverted duplication in a fetus with increased nuchal translucency

scientific article

In-silico analysis of Thr767Ile pathogenic variant in the MSH6 gene in family with endometrial cancer

scientific article published on 22 April 2019

Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency.

scientific article

Irrelevance of CHEK2 variants to diagnosis of breast/ovarian cancer predisposition in Polish cohort.

scientific article published in December 2010

Multiplex ligation-dependent probe amplification as a screening test in children with autism spectrum disorders

scientific article published on 01 January 2020

Mutations spectrum in hereditary disorders predisposing to occurrence of intestine polyposis in Poland.

scientific article

Novel mutation in the FOXC2 gene in three generations of a family with lymphoedema-distichiasis syndrome

scientific article published on 14 February 2012

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

article

Polymorphism in nucleotide excision repair gene XPC correlates with bleomycin-induced chromosomal aberrations

scientific article

Polymorphisms in methyl-group metabolism genes and risk of sporadic colorectal cancer with relation to the CpG island methylator phenotype

article

Prenatal diagnosis--principles of diagnostic procedures and genetic counseling.

scientific article published on January 2007

Recombinant chromosome 4 resulting from a maternal pericentric inversion in two sisters presenting consistent dysmorphic features.

scientific article published on 30 September 2006

Short stature in genetic syndromes: Selected issues

scientific article published on 01 March 2018

Significant involvement of chromosome 13q deletions in progression of larynx cancer, detected by comparative genomic hybridization.

scientific article published in January 2005

Ten new ATM alterations in Polish patients with ataxia-telangiectasia.

scientific article

The C/A polymorphism in intron 11 of the XPC gene plays a crucial role in the modulation of an individual's susceptibility to sporadic colorectal cancer

scientific article

Three distinct regions of deletion on 13q in squamous cell carcinoma of the larynx

scientific article published on 01 August 2006

Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.

scientific article published on 6 February 2014

[Diagnostic difficulties in Smith-Magenis Syndrome (SMS) on the basis of own experience and literature data]

scientific article published on 01 April 2012

[Familial chromosome X structural aberrations - case report]

scientific article published on 01 January 2010

[Genotype and phenotype of gastrointestinal symptoms analysis in children with cystic fibrosis]

scientific article published on 01 February 2005

[Multiplex Ligation - dependent Probe Amplification (MLPA) as a screening test in children with developmental defects and intellectual disability of unknown etiology]

scientific article published on 01 April 2011

[New molecular methods in prenatal invasive diagnostics].

scientific article

[Non-invasive fetal trisomy (NIFTY) test in prenatal diagnosis]

scientific article published on 01 April 2014

[Non-invasive prenatal test in the diagnosis of aneuploidy 13, 18 and 21--theoretical and practical aspects]

scientific article published on 01 February 2011

[Perinatal palliative care performed in obstetrics and neonatology wards and hospices for children - own experience]

scientific article published on 01 January 2019

[Pitt-Hopkins syndrome - own experience on the base of two case reports and literature review with special emphasis on differential diagnosis]

scientific article published on 01 January 2014

[Rapid diagnosis of the most common fetal aneuploidies with the QF-PCR method--a study of 100 cases].

scientific article published in September 2015

[Rapid-FISH--fast and reliable method of detecting common numerical chromosomal aberrations in prenatal diagnosis]

scientific article published on 01 December 2007

[Rett syndrome. Classical form and preserved speech variant as a different phenotype effect of deletion with the same starting point in MeCP2 gene - report of 2 cases]

scientific article published on 01 October 2011

List of works by Agnieszka Stembalska

A common nonsense mutation of the BLM gene and prostate cancer risk and survival

Analysis of adaptive response to bleomycin and mitomycin C

Cancer stem cells: the theory and perspectives in cancer therapy.

Clinical Observation of a Child with Prenatally Diagnosed De Novo Partial Trisomy of Chromosome 20

Coexistent chronic myelogenous leukemia with squamous cell carcinoma of the larynx associated with NOD2/CARD15 mutation in a young adult

Correlation among loss of heterozygosity, promoter methylation and protein expression of MLH1 in larynx cancer.

Cri du chat syndrome determined by the 5p15.3-->pter deletion--diagnostic problems.

Cyclin D1 and MLH1 levels in laryngeal cancer are linked to chromosomal imbalance.

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement

Epigenetic control of E-cadherin (CDH1) by CpG methylation in metastasising laryngeal cancer.

Exonic deletions in the NF1 gene in patients with neurofibromatosis type I from the lower Silesian region of Poland.

Fragile X syndrome in females - a familial case report and review of the literature

Genetic variants in ATM, H2AFX and MRE11 genes and susceptibility to breast cancer in the polish population.

Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study)

Global DNA methylation status in laryngeal cancer

Hexasomy 13q31.3q34 due to two marker chromosomes with inverted duplication in a fetus with increased nuchal translucency

In-silico analysis of Thr767Ile pathogenic variant in the MSH6 gene in family with endometrial cancer

Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency.

Irrelevance of CHEK2 variants to diagnosis of breast/ovarian cancer predisposition in Polish cohort.

Multiplex ligation-dependent probe amplification as a screening test in children with autism spectrum disorders

Mutations spectrum in hereditary disorders predisposing to occurrence of intestine polyposis in Poland.

Novel mutation in the FOXC2 gene in three generations of a family with lymphoedema-distichiasis syndrome

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

Polymorphism in nucleotide excision repair gene XPC correlates with bleomycin-induced chromosomal aberrations

Polymorphisms in methyl-group metabolism genes and risk of sporadic colorectal cancer with relation to the CpG island methylator phenotype

Prenatal diagnosis--principles of diagnostic procedures and genetic counseling.

Recombinant chromosome 4 resulting from a maternal pericentric inversion in two sisters presenting consistent dysmorphic features.

Short stature in genetic syndromes: Selected issues

Significant involvement of chromosome 13q deletions in progression of larynx cancer, detected by comparative genomic hybridization.

Ten new ATM alterations in Polish patients with ataxia-telangiectasia.

The C/A polymorphism in intron 11 of the XPC gene plays a crucial role in the modulation of an individual's susceptibility to sporadic colorectal cancer

Three distinct regions of deletion on 13q in squamous cell carcinoma of the larynx

Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.

[Diagnostic difficulties in Smith-Magenis Syndrome (SMS) on the basis of own experience and literature data]

[Familial chromosome X structural aberrations - case report]

[Genotype and phenotype of gastrointestinal symptoms analysis in children with cystic fibrosis]

[Multiplex Ligation - dependent Probe Amplification (MLPA) as a screening test in children with developmental defects and intellectual disability of unknown etiology]

[New molecular methods in prenatal invasive diagnostics].

[Non-invasive fetal trisomy (NIFTY) test in prenatal diagnosis]

[Non-invasive prenatal test in the diagnosis of aneuploidy 13, 18 and 21--theoretical and practical aspects]

[Perinatal palliative care performed in obstetrics and neonatology wards and hospices for children - own experience]

[Pitt-Hopkins syndrome - own experience on the base of two case reports and literature review with special emphasis on differential diagnosis]

[Rapid diagnosis of the most common fetal aneuploidies with the QF-PCR method--a study of 100 cases].

[Rapid-FISH--fast and reliable method of detecting common numerical chromosomal aberrations in prenatal diagnosis]

[Rett syndrome. Classical form and preserved speech variant as a different phenotype effect of deletion with the same starting point in MeCP2 gene - report of 2 cases]