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List of works by Maria M Sasiadek

1,3-Butadiene and its epoxides induce sister-chromatid exchanges in human lymphocytes in vitro

scientific article published on 01 October 1991

A TMC1 (transmembrane channel-like 1) mutation (p.S320R) in a Polish family with hearing impairment.

scientific article published on 6 January 2015

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

scientific article published on 2 October 2013

A new case of cerebro-facio-thoracic dysplasia in a 3-year-old girl with short stature and hypothyroidism

scientific article published on July 1, 2012

A novel p.E311K mutation of thyroid receptor beta gene in resistance to thyroid hormone syndrome, inherited in autosomal recessive trait.

scientific article published on 13 June 2012

A set of specific miRNAs is connected with murine and human gastric cancer.

scientific article published on 2 November 2012

Aberrant epigenetic patterns in the etiology of gastrointestinal cancers.

scientific article published on January 2008

Aberrant methylation of ERBB pathway genes in sporadic colorectal cancer.

scientific article published on November 2014

Alternations in genes expression of pathway signaling in esophageal tissue with atresia: results of expression microarray profiling.

scientific article

Analysis of adaptive response to bleomycin and mitomycin C

Analysis of global gene expression at seven brain regions of patients with schizophrenia

scientific article published on 03 July 2020

Apolipoprotein E and tau protein in vascular dementia

scientific article published on 01 July 2003

Assessment of chromosomal imbalances in CIMP-high and CIMP-low/CIMP-0 colorectal cancers.

scientific article published on 25 January 2012

Assessment of three epigenotypes in colorectal cancer by combined bisulfite restriction analysis.

scientific article

Basal cell carcinoma of the skin: whole genome screening by comparative genome hybridization revisited.

scientific article

Bendamustine alone or with rituximab modifies expression of apoptosis-regulating genes and proteins of CLL cells, depending on IGVH mutational status

scientific article published on 06 September 2018

Bleomycin-induced chromosome aberrations in head and neck cancer patients analyzed by classical cytogenetics and FISH

scientific article published on 01 May 2000

Broad phenotypic spectrum of germline 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia

scientific article published on 02 November 2020

CYP1A1 Ile462Val polymorphism and colorectal cancer risk in Polish patients

scientific article

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

scientific article published on January 2008

Cell-free fetal DNA testing in prenatal diagnosis: Recommendations of the Polish Gynecological Society and the Polish Human Genetics Society

scientific article published on 12 May 2017

Chromosome aberrations and gene mutations in patients with esophageal atresia.

scientific article published on December 2013

Classical and molecular cytogenetics in analysis of diepoxybutane-induced chromosome aberrations ⬇️

scientific article published on November 9, 1998

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

scientific article published on 20 March 2019

Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).

scientific article published in October 2008

Clinical examination of Leber hereditary optic neuropathy in patients with the same gene mutation

scientific article published in January 2002

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

scientific article published on 30 April 2018

Copy number alterations of chromosomal regions enclosing protein tyrosine phosphatase receptor-like genes in colorectal cancer

scientific article published on 9 August 2014

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

scientific article published on March 2004

Correlation between the adaptive response and individual sensitivity to monoepoxybutene in in vitro experiments on human lymphocytes

scientific article published on 01 May 1997

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

scientific article published on 6 July 2005

Customized Array Comparative Genomic Hybridization Analysis of 25 Phosphatase-encoding Genes in Colorectal Cancer Tissues.

scientific article published on January 2017

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

scientific article published in November 2006

Cytogenetic and molecular cytogenetic characterization of the stable ovarian carcinoma cell line (OvBH-1).

scientific article published on January 2006

Cytogenetic studies of workers from the rubber industry

scientific article published on June 1, 1992

DNA methylation analysis of a de novo balanced X;13 translocation in a girl with abnormal phenotype: evidence for functional duplication of the whole short arm of the X chromosome

scientific article published on 01 January 2010

Detection of viral DNA sequences in sporadic colorectal cancers in relation to CpG island methylation and methylator phenotype

scientific article

Determination and interpretation of MTHFR gene mutations in gynecology and internal medicine

scientific article published on 30 October 2019

Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs

scientific article published on 13 June 2018

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

scientific article published in March 2003

Expression Analysis of Tyrosine Phosphatase Genes at Different Stages of Renal Cell Carcinoma

scientific article published on 01 October 2020

FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine

scientific article published on 19 January 2018

First-episode schizophrenia is associated with a reduction of HERV-K methylation in peripheral blood

scientific article published on 03 December 2018

Freeman-Sheldon syndrome - phenotype and course of disease on the base of two cases confirmed by molecular study

scientific article published on 01 October 2011

Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy.

scientific article

Further evidence for depletion of peripheral blood natural killer cells in patients with schizophrenia: A computational deconvolution study

article

Genetic Factors Involved in Mandibular Prognathism.

scientific article published on 31 May 2017

Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?

scientific article published on 10 August 2020

Genome-wide analysis of gene expression after one year of venom immunotherapy

article

Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome

scientific article published on 14 September 2016

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

scientific article published on 13 December 2005

Gilbert syndrome: the UGT1A1*28 promoter polymorphism as a biomarker of multifactorial diseases and drug metabolism

scientific article published on April 2012

Glutathione S-transferase M1 genotype influences sister chromatid exchange induction but not adaptive response in human lymphocytes treated with 1,2-epoxy-3-butene

scientific article published on 01 February 1999

Heteroplasmy analysis in the Polish patients with 11778A mutation responsible for Leber hereditary optic neuropathy

scientific article published on 01 January 2002

High PTPRQ Expression and Its Relationship to Expression of PTPRZ1 and the Presence of KRAS Mutations in Colorectal Cancer Tissues

scientific article published on February 2016

High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate

scientific article published on 21 January 2015

Hirschsprung, RET-SOX and beyond: the challenge of examining non-mendelian traits (Review).

scientific article

Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia

article

Immunohistochemical and Western blot analysis of two protein tyrosine phosphatase receptors, R and Z1, in colorectal carcinoma, colon adenoma and normal colon tissues.

scientific article published on 18 November 2013

Immunological landscape of consensus clusters in colorectal cancer

scientific article published on 27 October 2017

Impairment of MLH1 and CDKN2A in oncogenesis of laryngeal cancer.

scientific article published on April 2004

Inactivation of the cyclin-dependent kinase inhibitor 2A (CDKN2A) gene in squamous cell carcinoma of the larynx.

scientific article published in March 2004

Individual sensitivity to the mutagenic agents in patients with larynx cancer

scientific article published on 01 January 2004

Influence of GSTT1, mEH, CYP2E1 and RAD51 polymorphisms on diepoxybutane-induced SCE frequency in cultured human lymphocytes

scientific article published on March 2004

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

scientific article

Interactions Between Variation in Candidate Genes and Environmental Factors in the Etiology of Schizophrenia and Bipolar Disorder: a Systematic Review

scientific article published on 18 August 2017

Intermediate- and Low-Methylation Epigenotypes Do Not Correspond to CpG Island Methylator Phenotype (Low and -Zero) in Colorectal Cancer

scientific article published on 21 November 2012

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

scientific article published in December 2010

Is c.1431-12G>A A common European mutation of SPINK5? report of a patient with Netherton Syndrome

scientific article published on December 2016

Lower LINE-1 methylation in first-episode schizophrenia patients with the history of childhood trauma

scientific article published on 27 July 2015

MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease

scientific article published on 25 May 2018

Markers of individual susceptibility and DNA repair rate in workers exposed to xenobiotics in a tire plant

scientific article published in January 2004

Maternal complex chromosome rearrangements involving five chromosomes 1, 4, 10, 12 and 20 ascertained through a del(4)(p14p15) detected in a mother's first affected daughter

scientific article published on 01 January 2007

May autophagy be a novel biomarker and antitumor target in colorectal cancer?

scientific article published on 14 September 2016

Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1.

scientific article published on 4 December 2015

Meta-analysis of association between Arg326Gln (rs1503185) and Gln276Pro (rs1566734) polymorphisms of PTPRJ gene and cancer risk

article

Microsatellite Instability in Thyroid Papillary Carcinoma and Multinodular Hyperplasia

scientific article published on 01 May 2000

Multilevel omic data clustering reveals variable contribution of methylator phenotype to integrative cancer subtypes

scientific article published on 13 June 2018

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

scientific article

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

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

New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation.

scientific article

Noonan-like/multiple giant cell lesion syndrome in two adult patients with SOS1 gene mutations

article

Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection

scientific article

Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.

scientific article

Opposite responses in two DNA repair capacity tests in lymphocytes of head and neck cancer patients.

scientific article published in January 2002

Pan-cancer analysis reveals presence of pronounced DNA methylation drift in CpG island methylator phenotype clusters

scientific article published on 29 September 2017

Personalized medicine in oncology. New perspectives in management of gliomas.

scientific article published on 5 March 2018

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations.

scientific article published on 12 November 2014

Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene

scientific article published on 31 January 2018

Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15.

scientific article published on 2 April 2018

Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene

scientific article published on 24 July 2020

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

Polymorphisms in nucleotide excision repair genes and basal cell carcinoma of the skin

scientific article

Prenatal diagnosis of triploidy

scientific article

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

scientific article published on January 2007

Progressive development of sonographic features in prenatal diagnosis of Apert syndrome--case report and literature review

scientific article published on December 1, 2010

Protein tyrosine phosphatase receptor-like genes are frequently hypermethylated in sporadic colorectal cancer.

scientific article

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

scientific article published on 13 July 2020

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

scientific article published in September 2015

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

scientific article published on 30 September 2006

Recommendations for prenatal diagnostics of the Polish Society of Gynaecologists and Obstetricians and the Polish Society of Human Genetics

scientific article published on 16 February 2022

Reduced expression of connexin 31.1 in larynx cancer is not caused by GJB5 mutations

scientific article published in October 2004

Reduced number of peripheral natural killer cells in schizophrenia but not in bipolar disorder.

scientific article

Response to the commentary by Gholami and Amoli

scientific article published on 08 February 2020

Single nucleotide polymorphisms in theRET gene and their correlations with Hirschsprung disease phenotype

article

Sister-chromatid exchanges induced by 1.3-butadiene and its epoxides in CHO cells

scientific article published on 01 May 1991

Somatic mosaicism in esophageal atresia

scientific article published in December 2014

Studies of the cell cycle regulatory proteins P16, cyclin D1 and retinoblastoma protein in laryngeal carcinoma tissue

scientific article published on 01 September 2004

Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine

scientific article

The BAX gene as a candidate for negative autophagy-related genes regulator on mRNA levels in colorectal cancer

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

The Comparison Between Molecular Tumour Profiling in Microdissected and Surgical Tissue Samples

scientific article published on 01 March 2018

The CpG island methylator phenotype correlates with long-range epigenetic silencing in colorectal cancer.

scientific article

The First Evidence of Infection in a Colon Adenocarcinoma From an Immunocompetent Patient

scholarly article by Żaneta Kopacz et al published 2019 in Frontiers in cellular and infection microbiology

The Influence of Tumor Microenvironment on ATG4D Gene Expression in Colorectal Cancer Patients

article

The PTPN13 Y2081D (T>G) (rs989902) polymorphism is associated with an increased risk of sporadic colorectal cancer.

scientific article published on 15 May 2017

The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problem

scientific article published on 14 November 2007

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

scientific article published on 01 August 2006

Toward a unified theory of childhood trauma and psychosis: A comprehensive review of epidemiological, clinical, neuropsychological and biological findings.

scientific article published on 16 February 2017

Transcriptomic Profiling for the Autophagy Pathway in Colorectal Cancer

scientific article published on 26 September 2020

Transposable Elements and Their Epigenetic Regulation in Mental Disorders: Current Evidence in the Field

scientific article published on 25 June 2019

Tyrosine phosphatases as a superfamily of tumor suppressors in colorectal cancer

scientific article published on December 6, 2011

Uncommon constellation of multiglandular deficiency with 2 mutations in AIRE gene in an 18-year-old girl - 12 years of observation

scientific article published in January 2014

Vitamin D receptor gene polymorphisms in relation to the risk of colorectal cancer in the Polish population

scientific article

[Chromosome Y microdeletions in the pathogenesis of male infertility]

scientific article published on 01 September 2002

[Difficult therapeutic decision making in treatment of children with oesophageal atresia and trisomy of chromosome 18 - comments by geneticist, surgeon, neonatologist, paediatrician and anaesthesiologist]

scientific article published on 01 January 2011

[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

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

scientific article published on 01 January 2019

[Prenatal diagnosis of triploidy]

scientific article published on 01 April 2005

[The role of genetic and environmental factors in the etiology of esophageal atresia and tracheo-esophageal fistula]

scientific article published on 07 March 2014

[The role of ret gene in the pathogenesis of Hirschsprung disease]

scientific article published on 01 July 2004

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