Lista de obras - Joanna Trubicka - Dominio Público Uruguay

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

article

A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23

artículo científico publicado en 2011

A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium

artículo científico publicado en 2011

A novel founder CHEK2 mutation is associated with increased prostate cancer risk

artículo científico publicado en 2004

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

artículo científico publicado en 2017

A sex-specific association between a 15q25 variant and upper aerodigestive tract cancers

artículo científico publicado en 2011

ALK Expression Is a Novel Marker for the WNT-activated Type of Pediatric Medulloblastoma and an Indicator of Good Prognosis for Patients

artículo científico publicado en 2017

Abstracts

article by L. Bie et al published 1 April 2013 in Neuro-Oncology

Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome

artículo científico publicado en 2016

Breast cancer susceptibility genes

article

CDKN2A common variant and multi-organ cancer risk--a population-based study

artículo científico publicado en 2006

CYP1B1 and predisposition to breast cancer in Poland

article

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

artículo científico publicado en 2016

Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma

artículo científico publicado en 2017

Contrast enhancement pattern predicts poor survival for patients with non-WNT/SHH medulloblastoma tumours

artículo científico publicado en 2015

Correction: A Genome-Wide Association Study of Upper Aerodigestive Tract Cancers Conducted within the INHANCE Consortium.

artículo científico publicado en 2011

DNA and RNA analyses in detection of genetic predisposition to cancer

artículo científico publicado en 2012

DNA testing for variants conferring low or moderate increase in the risk of cancer

artículo científico publicado en 2008

Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

artículo científico publicado en 2016

Familial association of laryngeal, lung, stomach and early-onset breast cancer

Genetic contribution to all cancers: the first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology

article

Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3

scientific journal article

Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma

artículo científico publicado en 2006

Germline mutations in theCHEK2 kinase gene are associated with an increased risk of bladder cancer

artículo científico publicado en 2007

Identification of a novel inherited ALK variant M1199L in the WNT type of medulloblastoma

artículo científico publicado en 2016

Identification of a novel inherited ALK variant M1199L in the WNT type of medulloblastoma

Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report

artículo científico publicado en 2017

Immunohistochemical detection of ALK protein identifies APC mutated medulloblastoma and differentiates the WNT-activated medulloblastoma from other types of posterior fossa childhood tumors

artículo científico publicado en 2018

Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria).

artículo científico publicado en 2011

International Lung Cancer Consortium: coordinated association study of 10 potential lung cancer susceptibility variants

artículo científico publicado en 2010

Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.

artículo científico publicado en 2013

Low-risk Genes and Multi-organ Cancer Risk in the Polish Population

artículo científico publicado en 2006

Lung cancer susceptibility locus at 5p15.33

artículo científico publicado en 2008

MB-02CONTRAST ENHANCEMENT PATTERN IS ASSOCIATED WITH MOLECULAR TYPE OF MEDULLOBLASTOMA TUMOURS AND PREDICTS POOR SURVIVAL FOR PATIENTS.

artículo científico publicado en 2016

MB-04A NOVEL GERMLINE MUTATION IN ALK GENE (M1199L) IDENTYFIED IN THE WNT TYPE OF MEDULLOBLASTOMA.

artículo científico publicado en 2016

MBRS-18. ALK EXPRESSION AT THE PROTEIN LEVEL IS A MARKER FOR THE DIFFERENTIATION DIAGNOSIS OF THE WNT-ACTIVATED TYPE OF PEDIATRIC MEDULLOBLASTOMA

MEDULLOBLASTOMA

Medulloblastoma with transitional features between Group 3 and Group 4 is associated with good prognosis.

artículo científico publicado en 2018

Molecular identification of CNS NB-FOXR2, CNS EFT-CIC, CNS HGNET-MN1 and CNS HGNET-BCOR pediatric brain tumors using tumor-specific signature genes

scientific article published on 10 July 2020

Molecular studies of Polish patients with respiratory chain complex I deficiency

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

artículo científico publicado en 2018

Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease

artículo científico publicado en 2017

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre

artículo científico publicado en 2016

P02.03 ALK expression can differentiate the WNT-activated type of medulloblastoma from choroid plexus carcinoma and ependymoma

Pattern of Relapse and Treatment Response in WNT-Activated Medulloblastoma

artículo científico publicado en 2020

Pediatric Medulloblastoma: The Role of Heterozygous Germ-Line Mutations in the NBN Gene

article

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases

artículo científico publicado en 2017

Recurrent PALB2 mutations and the risk of cancers of bladder or kidney in Polish population

artículo científico publicado en 2021

Risk-Adapted Treatment Strategies with Pre-Irradiation Chemotherapy in Pediatric Medulloblastoma: Outcomes from the Polish Pediatric Neuro-Oncology Group

artículo científico publicado en 2023

Sensorineural hearing loss in GSD type I patients. A newly recognized symptomatic association of potential clinical significance and unclear pathomechanism

scientific article published on 10 November 2021

Smoking related cancers and loci at chromosomes 15q25, 5p15, 6p22.1 and 6p21.33 in the Polish population

artículo científico publicado en 2011

TBIO-13. CONSTITUTIONAL MOSAICISM OF CLINICALLY IMPORTANT GENETIC MARKERS IN PEDIATRIC BRAIN TUMORS DETECTED BY NEXT-GENERATION SEQUENCING

TBIO-14. SUBEPENDYMAL GIANT CELL ASTROCYTOMA (SEGA) - A CLINICAL, HISTOPATHOLOGICAL AND MOLECULAR STUDY

The 3020insC Allele of NOD2 Predisposes to Cancers of Multiple Organs

artículo científico publicado en 2005

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort

scientific article published on 10 November 2018

The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies

artículo científico publicado en 2017

The new molecular p.M177T identified in two unrelated patients with clinical features of SCO2-dependent cytochrome c oxidase deficiency

Transcriptional profiling of paediatric ependymomas identifies prognostically significant groups

artículo científico publicado en 2021

Variant alleles of the CYP1B1 gene are associated with colorectal cancer susceptibility

artículo científico publicado en 2010

[Clinical and diagnostic aspects of Barth syndrome (X-linked cardiomyopathy)]

artículo científico publicado en 2011

Lista de obras de Joanna Trubicka

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23

A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium

A novel founder CHEK2 mutation is associated with increased prostate cancer risk

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

A sex-specific association between a 15q25 variant and upper aerodigestive tract cancers

ALK Expression Is a Novel Marker for the WNT-activated Type of Pediatric Medulloblastoma and an Indicator of Good Prognosis for Patients

Abstracts

Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome

Breast cancer susceptibility genes

CDKN2A common variant and multi-organ cancer risk--a population-based study

CYP1B1 and predisposition to breast cancer in Poland

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma

Contrast enhancement pattern predicts poor survival for patients with non-WNT/SHH medulloblastoma tumours

Correction: A Genome-Wide Association Study of Upper Aerodigestive Tract Cancers Conducted within the INHANCE Consortium.

DNA and RNA analyses in detection of genetic predisposition to cancer

DNA testing for variants conferring low or moderate increase in the risk of cancer

Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

Familial association of laryngeal, lung, stomach and early-onset breast cancer

Genetic contribution to all cancers: the first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology

Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3

Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma

Germline mutations in theCHEK2 kinase gene are associated with an increased risk of bladder cancer

Identification of a novel inherited ALK variant M1199L in the WNT type of medulloblastoma

Identification of a novel inherited ALK variant M1199L in the WNT type of medulloblastoma

Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report

Immunohistochemical detection of ALK protein identifies APC mutated medulloblastoma and differentiates the WNT-activated medulloblastoma from other types of posterior fossa childhood tumors

Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria).

International Lung Cancer Consortium: coordinated association study of 10 potential lung cancer susceptibility variants

Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.

Low-risk Genes and Multi-organ Cancer Risk in the Polish Population

Lung cancer susceptibility locus at 5p15.33

MB-02CONTRAST ENHANCEMENT PATTERN IS ASSOCIATED WITH MOLECULAR TYPE OF MEDULLOBLASTOMA TUMOURS AND PREDICTS POOR SURVIVAL FOR PATIENTS.

MB-04A NOVEL GERMLINE MUTATION IN ALK GENE (M1199L) IDENTYFIED IN THE WNT TYPE OF MEDULLOBLASTOMA.

MBRS-18. ALK EXPRESSION AT THE PROTEIN LEVEL IS A MARKER FOR THE DIFFERENTIATION DIAGNOSIS OF THE WNT-ACTIVATED TYPE OF PEDIATRIC MEDULLOBLASTOMA

MEDULLOBLASTOMA

Medulloblastoma with transitional features between Group 3 and Group 4 is associated with good prognosis.

Molecular identification of CNS NB-FOXR2, CNS EFT-CIC, CNS HGNET-MN1 and CNS HGNET-BCOR pediatric brain tumors using tumor-specific signature genes

Molecular studies of Polish patients with respiratory chain complex I deficiency

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre

P02.03 ALK expression can differentiate the WNT-activated type of medulloblastoma from choroid plexus carcinoma and ependymoma

Pattern of Relapse and Treatment Response in WNT-Activated Medulloblastoma

Pediatric Medulloblastoma: The Role of Heterozygous Germ-Line Mutations in the NBN Gene

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases

Recurrent PALB2 mutations and the risk of cancers of bladder or kidney in Polish population

Risk-Adapted Treatment Strategies with Pre-Irradiation Chemotherapy in Pediatric Medulloblastoma: Outcomes from the Polish Pediatric Neuro-Oncology Group

Sensorineural hearing loss in GSD type I patients. A newly recognized symptomatic association of potential clinical significance and unclear pathomechanism

Smoking related cancers and loci at chromosomes 15q25, 5p15, 6p22.1 and 6p21.33 in the Polish population

TBIO-13. CONSTITUTIONAL MOSAICISM OF CLINICALLY IMPORTANT GENETIC MARKERS IN PEDIATRIC BRAIN TUMORS DETECTED BY NEXT-GENERATION SEQUENCING

TBIO-14. SUBEPENDYMAL GIANT CELL ASTROCYTOMA (SEGA) - A CLINICAL, HISTOPATHOLOGICAL AND MOLECULAR STUDY

The 3020insC Allele of NOD2 Predisposes to Cancers of Multiple Organs

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort

The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies

The new molecular p.M177T identified in two unrelated patients with clinical features of SCO2-dependent cytochrome c oxidase deficiency

Transcriptional profiling of paediatric ependymomas identifies prognostically significant groups

Variant alleles of the CYP1B1 gene are associated with colorectal cancer susceptibility

[Clinical and diagnostic aspects of Barth syndrome (X-linked cardiomyopathy)]