List of works - Magdalena Koczkowska

Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example

scientific article published on 21 May 2015

Application of high-resolution genomic profiling in the differential diagnosis of liposarcoma.

scientific article published on 16 March 2017

Bayesian multilevel model of micro RNA levels in ovarian-cancer and healthy subjects

scientific article published on 29 August 2019

Cancer predisposing BARD1 mutations affect exon skipping and are associated with overexpression of specific BARD1 isoforms

scientific article published on September 2015

Chromosome 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency

scientific article published on 18 November 2014

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

scientific article published on 26 October 2019

Comparative genomic analysis of intracranial germ cell tumors - the preliminary study focused on Sonic Hedgehog signaling pathway.

scientific article published on 30 December 2017

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

article

Cytokine profiling in exhaled breath condensate after exercise challenge in asthmatic children with post-exercise symptoms

scientific article published on July 2016

Detection of BRCA1/2 mutations in circulating tumor DNA from patients with ovarian cancer.

scientific article published on 8 September 2017

Detection of somatic BRCA1/2 mutations in ovarian cancer - next-generation sequencing analysis of 100 cases

scientific article published on 11 May 2016

Erratum to: Glomerulopathy in patients with distal duplication of chromosome 6p

scientific article published on 26 April 2016

Erratum to: Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.

scientific article published on 9 February 2013

Exhaled nitric oxide correlates with IL-2, MCP-1, PDGF-BB and TIMP-2 in exhaled breath condensate of children with refractory asthma

scientific article published on 30 March 2015

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

scientific article published on 07 September 2018

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

scientific article published on 14 September 2016

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

scientific article published on 21 December 2017

Glomerulopathy in patients with distal duplication of chromosome 6p.

scientific article

Hedgehog signalling network gene status analysis in paediatric intracranial germ cell tumours

scientific article published on 01 January 2019

Malignant Gliomas as Second Neoplasms in Pediatric Cancer Survivors: Neuropathological Study.

scientific article

Mild phenotype of a large partial 13q trisomy

scientific article published on 01 October 2014

Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing

scientific article published on November 2014

On the significance of germline cytogenetic rearrangements at MYCN locus in neuroblastoma

scientific article published on 16 October 2013

Primary leiomyosarcoma of the mesentery in two sisters: clinical and molecular characteristics

scientific article published in April 2013

Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients

article

Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome

scientific article published on 20 December 2012

The outcome and predictive factors of sunitinib therapy in advanced gastrointestinal stromal tumors (GIST) after imatinib failure - one institution study

scientific article

List of works by Magdalena Koczkowska

Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example

Application of high-resolution genomic profiling in the differential diagnosis of liposarcoma.

Bayesian multilevel model of micro RNA levels in ovarian-cancer and healthy subjects

Cancer predisposing BARD1 mutations affect exon skipping and are associated with overexpression of specific BARD1 isoforms

Chromosome 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

Comparative genomic analysis of intracranial germ cell tumors - the preliminary study focused on Sonic Hedgehog signaling pathway.

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

Cytokine profiling in exhaled breath condensate after exercise challenge in asthmatic children with post-exercise symptoms

Detection of BRCA1/2 mutations in circulating tumor DNA from patients with ovarian cancer.

Detection of somatic BRCA1/2 mutations in ovarian cancer - next-generation sequencing analysis of 100 cases

Erratum to: Glomerulopathy in patients with distal duplication of chromosome 6p

Erratum to: Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.

Exhaled nitric oxide correlates with IL-2, MCP-1, PDGF-BB and TIMP-2 in exhaled breath condensate of children with refractory asthma

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

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

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Glomerulopathy in patients with distal duplication of chromosome 6p.

Hedgehog signalling network gene status analysis in paediatric intracranial germ cell tumours

Malignant Gliomas as Second Neoplasms in Pediatric Cancer Survivors: Neuropathological Study.

Mild phenotype of a large partial 13q trisomy

Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing

On the significance of germline cytogenetic rearrangements at MYCN locus in neuroblastoma

Primary leiomyosarcoma of the mesentery in two sisters: clinical and molecular characteristics

Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients

Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome

The outcome and predictive factors of sunitinib therapy in advanced gastrointestinal stromal tumors (GIST) after imatinib failure - one institution study