Lista de obras - Piotr Kozlowski - Dominio Público Uruguay

A mosaic genetic structure of the human population living in the South Baltic region during the Iron Age.

artículo científico publicado en 2018

A prospective assessment of the Y402H variant in complement factor H, genetic variants in C-reactive protein, and risk of age-related macular degeneration

artículo científico publicado en 2006

Allelic imbalance of BRCA1 transcript in the IVS20 12-bp insertion carrier

scientific article published on 01 October 2000

An Overview of Circular RNAs and Their Implications in Myotonic Dystrophy

scientific article published on 06 September 2019

Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots.

artículo científico publicado en 2007

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

Arabidopsis thaliana population analysis reveals high plasticity of the genomic region spanning MSH2, AT3G18530 and AT3G18535 genes and provides evidence for NAHR-driven recurrent CNV events occurring in this location.

artículo científico publicado en 2016

Assessment of FSHR, AMH, and AMHRII variants in women with polycystic ovary syndrome.

artículo científico publicado en 2014

Association of common CRP gene variants with CRP levels and cardiovascular events.

artículo científico publicado en 2005

BARD1 is A Low/Moderate Breast Cancer Risk Gene: Evidence Based on An Association Study of the Central European p.Q564X Recurrent Mutation

artículo científico publicado en 2019

BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases

artículo científico publicado en 2020

CAG and CTG repeat polymorphism in exons of human genes shows distinct features at the expandable loci

scientific article published on 01 May 2007

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

artículo científico publicado en 2015

Combined SSCP/duplex analysis by capillary electrophoresis for more efficient mutation detection.

artículo científico publicado en 2001

Comprehensive analysis of microorganisms accompanying human archaeological remains.

artículo científico publicado en 2017

Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative)

artículo científico publicado en 2015

Copy number variation of genes involved in the hepatitis C virus-human interactome

artículo científico publicado en 2016

Copy number variation of microRNA genes in the human genome

artículo científico publicado en 2011

Design and generation of MLPA probe sets for combined copy number and small-mutation analysis of human genes: EGFR as an example.

artículo científico publicado en 2010

Different levels of let-7d expression modulate response of FaDu cells to irradiation and chemotherapeutics

artículo científico publicado en 2017

Economical protocol for combined single-strand conformation polymorphism and heteroduplex analysis on a standard capillary electrophoresis apparatus

scientific article published on January 2010

Expression characteristics of triplet repeat-containing RNAs and triplet repeat-interacting proteins in human tissues

artículo científico publicado en 2008

Faster and cheaper PCR on a standard thermocycler

artículo científico publicado en 1995

Germline Mutations in BRCA1 and BRCA2 in Polish Families Predisposed to Breast and Ovary Cancers.

artículo científico publicado en 1999

Global Increase in Circular RNA Levels in Myotonic Dystrophy

scientific article published on 18 July 2019

Goth migration induced changes in the matrilineal genetic structure of the central-east European population

article

High copy number variation of cancer-related microRNA genes and frequent amplification of DICER1 and DROSHA in lung cancer.

artículo científico publicado en 2015

High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancer.

artículo científico publicado en 2000

Influence of genetic variation in the C-reactive protein gene on the inflammatory response during and after acute coronary ischemia

artículo científico publicado en 2006

Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes - Providing evidence of cancer predisposition genes

artículo científico publicado en 2019

MLPA-Based Analysis of Copy Number Variation in Plant Populations.

scientific article published on 21 February 2017

MTTE: an innovative strategy for the evaluation of targeted/exome enrichment efficiency

artículo científico publicado en 2016

NPM1 alternative transcripts are upregulated in acute myeloid and lymphoblastic leukemia and their expression level affects patient outcome

Novel BRCA1 mutations and more frequent intron-20 alteration found among 236 women from Western Poland.

artículo científico publicado en 1997

Novel fluorescent-based reporter cell line engineered for monitoring homologous recombination events

artículo científico publicado en 2021

Oncogenomic portals for the visualization and analysis of genome-wide cancer data

artículo científico publicado en 2016

PCR-SSCP-HDX analysis of pooled DNA for more rapid detection of germline mutations in large genes. The BRCA1 example.

artículo científico publicado en 1996

Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and Ovarian Cancer

artículo científico publicado en 2021

Qualitative and quantitative effects of APOE genetic variation on plasma C-reactive protein, LDL-cholesterol, and apoE protein.

artículo científico publicado en 2006

Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy.

artículo científico publicado en 2018

Robust method for distinguishing heterozygous from homozygous transgenic alleles by multiplex ligation-dependent probe assay

scientific article published on 01 May 2007

Selection of reference genes for qPCR- and ddPCR-based analyses of gene expression in Senescing Barley leaves

artículo científico publicado en 2015

Simultaneous detection of mutations and copy number variation of NPM1 in the acute myeloid leukemia using multiplex ligation-dependent probe amplification

artículo científico publicado en 2016

Somatic Mutations in miRNA Genes in Lung Cancer-Potential Functional Consequences of Non-Coding Sequence Variants

artículo científico publicado en 2019

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

article

Structural basis of microRNA length variety.

artículo científico publicado en 2010

Structural factors determining DNA length limitations in conformation-sensitive mutation detection methods

scientific article published on 01 January 2005

Structures of trinucleotide repeats in human transcripts and their functional implications.

artículo científico publicado en 2003

Summary of BARD1 Mutations and Precise Estimation of Breast and Ovarian Cancer Risks Associated with the Mutations

scientific article published on 15 July 2020

TSC1 loss synergizes with KRAS activation in lung cancer development in the mouse and confers rapamycin sensitivity.

artículo científico publicado en 2010

The 30 kb deletion in the APOBEC3 cluster decreases APOBEC3A and APOBEC3B expression and creates a transcriptionally active hybrid gene but does not associate with breast cancer in the European population

artículo científico publicado en 2017

The oncogene AAMDC links PI3K-AKT-mTOR signaling with metabolic reprograming in estrogen receptor-positive breast cancer

artículo científico publicado en 2021

The preliminary association study of ADIPOQ, RBP4, and BCMO1 variants with polycystic ovary syndrome and with biochemical characteristics in a cohort of Polish women.

artículo científico publicado en 2018

The role of the precursor structure in the biogenesis of microRNA

artículo científico publicado en 2011

The use of a two-tiered testing strategy for the simultaneous detection of small EGFR mutations and EGFR amplification in lung cancer

artículo científico publicado en 2015

Trinucleotide repeats in human genome and exome.

artículo científico

Unpredictable changes of selected miRNA in expression profile of HNSCC.

artículo científico publicado en 2015

Variant Identification in BARD1 , PRDM9 , RCC1 , and RECQL in Patients with Ovarian Cancer by Targeted Next-generation Sequencing of DNA Pools

artículo científico publicado en 2022

Variant Identification in BARD1, PRDM9, RCC1, and RECQL in Patients with Ovarian Cancer by Targeted Next-generation Sequencing of DNA Pools

artículo científico publicado en 2022

qEva-CRISPR: a method for quantitative evaluation of CRISPR/Cas-mediated genome editing in target and off-target sites

scientific article published on 01 September 2018

Lista de obras de Piotr Kozlowski

A mosaic genetic structure of the human population living in the South Baltic region during the Iron Age.

A prospective assessment of the Y402H variant in complement factor H, genetic variants in C-reactive protein, and risk of age-related macular degeneration

Allelic imbalance of BRCA1 transcript in the IVS20 12-bp insertion carrier

An Overview of Circular RNAs and Their Implications in Myotonic Dystrophy

Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots.

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

Arabidopsis thaliana population analysis reveals high plasticity of the genomic region spanning MSH2, AT3G18530 and AT3G18535 genes and provides evidence for NAHR-driven recurrent CNV events occurring in this location.

Assessment of FSHR, AMH, and AMHRII variants in women with polycystic ovary syndrome.

Association of common CRP gene variants with CRP levels and cardiovascular events.

BARD1 is A Low/Moderate Breast Cancer Risk Gene: Evidence Based on An Association Study of the Central European p.Q564X Recurrent Mutation

BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases

CAG and CTG repeat polymorphism in exons of human genes shows distinct features at the expandable loci

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

Combined SSCP/duplex analysis by capillary electrophoresis for more efficient mutation detection.

Comprehensive analysis of microorganisms accompanying human archaeological remains.

Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative)

Copy number variation of genes involved in the hepatitis C virus-human interactome

Copy number variation of microRNA genes in the human genome

Design and generation of MLPA probe sets for combined copy number and small-mutation analysis of human genes: EGFR as an example.

Different levels of let-7d expression modulate response of FaDu cells to irradiation and chemotherapeutics

Economical protocol for combined single-strand conformation polymorphism and heteroduplex analysis on a standard capillary electrophoresis apparatus

Expression characteristics of triplet repeat-containing RNAs and triplet repeat-interacting proteins in human tissues

Faster and cheaper PCR on a standard thermocycler

Germline Mutations in BRCA1 and BRCA2 in Polish Families Predisposed to Breast and Ovary Cancers.

Global Increase in Circular RNA Levels in Myotonic Dystrophy

Goth migration induced changes in the matrilineal genetic structure of the central-east European population

High copy number variation of cancer-related microRNA genes and frequent amplification of DICER1 and DROSHA in lung cancer.

High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancer.

Influence of genetic variation in the C-reactive protein gene on the inflammatory response during and after acute coronary ischemia

Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes - Providing evidence of cancer predisposition genes

MLPA-Based Analysis of Copy Number Variation in Plant Populations.

MTTE: an innovative strategy for the evaluation of targeted/exome enrichment efficiency

NPM1 alternative transcripts are upregulated in acute myeloid and lymphoblastic leukemia and their expression level affects patient outcome

Novel BRCA1 mutations and more frequent intron-20 alteration found among 236 women from Western Poland.

Novel fluorescent-based reporter cell line engineered for monitoring homologous recombination events

Oncogenomic portals for the visualization and analysis of genome-wide cancer data

PCR-SSCP-HDX analysis of pooled DNA for more rapid detection of germline mutations in large genes. The BRCA1 example.

Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and Ovarian Cancer

Qualitative and quantitative effects of APOE genetic variation on plasma C-reactive protein, LDL-cholesterol, and apoE protein.

Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy.

Robust method for distinguishing heterozygous from homozygous transgenic alleles by multiplex ligation-dependent probe assay

Selection of reference genes for qPCR- and ddPCR-based analyses of gene expression in Senescing Barley leaves

Simultaneous detection of mutations and copy number variation of NPM1 in the acute myeloid leukemia using multiplex ligation-dependent probe amplification

Somatic Mutations in miRNA Genes in Lung Cancer-Potential Functional Consequences of Non-Coding Sequence Variants

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

Structural basis of microRNA length variety.

Structural factors determining DNA length limitations in conformation-sensitive mutation detection methods

Structures of trinucleotide repeats in human transcripts and their functional implications.

Summary of BARD1 Mutations and Precise Estimation of Breast and Ovarian Cancer Risks Associated with the Mutations

TSC1 loss synergizes with KRAS activation in lung cancer development in the mouse and confers rapamycin sensitivity.

The 30 kb deletion in the APOBEC3 cluster decreases APOBEC3A and APOBEC3B expression and creates a transcriptionally active hybrid gene but does not associate with breast cancer in the European population

The oncogene AAMDC links PI3K-AKT-mTOR signaling with metabolic reprograming in estrogen receptor-positive breast cancer

The preliminary association study of ADIPOQ, RBP4, and BCMO1 variants with polycystic ovary syndrome and with biochemical characteristics in a cohort of Polish women.

The role of the precursor structure in the biogenesis of microRNA

The use of a two-tiered testing strategy for the simultaneous detection of small EGFR mutations and EGFR amplification in lung cancer

Trinucleotide repeats in human genome and exome.

Unpredictable changes of selected miRNA in expression profile of HNSCC.

Variant Identification in BARD1 , PRDM9 , RCC1 , and RECQL in Patients with Ovarian Cancer by Targeted Next-generation Sequencing of DNA Pools

Variant Identification in BARD1, PRDM9, RCC1, and RECQL in Patients with Ovarian Cancer by Targeted Next-generation Sequencing of DNA Pools

qEva-CRISPR: a method for quantitative evaluation of CRISPR/Cas-mediated genome editing in target and off-target sites