Lista de obras -

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2017

Glomerulopathy in patients with distal duplication of chromosome 6p.

artículo científico publicado en 2016

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

artículo científico publicado en 2019

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

artículo científico publicado en 2018

Mild phenotype of a large partial 13q trisomy

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

Lista de obras de

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