Lista de obras - Anna Walczak - Dominio Público Uruguay

A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.

artículo científico publicado en 2017

An association of the MCP-1 and CCR2 single nucleotide polymorphisms with colorectal cancer prevalence

artículo científico publicado en 2017

Analysis of the polymorphic variants of RAN and GEMIN3 genes and risk of Primary Open-Angle Glaucoma in the Polish population

artículo científico publicado en 2017

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations.

artículo científico publicado en 2017

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

artículo científico publicado en 2016

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

artículo científico publicado en 2018

DNA damage and repair of head and neck cancer cells after radio- and chemotherapy

artículo científico publicado en 2009

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

artículo científico publicado en 2018

Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features

artículo científico publicado en 2018

Evaluation of DNA double strand breaks repair efficiency in head and neck cancer

artículo científico publicado en 2011

Evaluation of polymorphisms in microRNA biosynthesis genes and risk of laryngeal cancer in the Polish population

artículo científico publicado en 2016

Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation

article

Exome sequencing reveals mutations inMFN2andGDAP1in severe Charcot-Marie-Tooth disease

scientific article published on 01 September 2014

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

article

Inverse association between obesity predisposing FTO genotype and completed suicide

artículo científico publicado en 2014

KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy

artículo científico publicado en 2016

Melatonin reduces oxidative stress in the erythrocytes of multiple sclerosis patients with secondary progressive clinical course

artículo científico publicado en 2013

MicroRNAs in glaucoma and neurodegenerative diseases

artículo científico publicado en 2016

Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines

artículo científico publicado en 2018

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

artículo científico publicado en 2018

Oxidative modification of patient's plasma proteins and its role in pathogenesis of multiple sclerosis

artículo científico publicado en 2011

Polymorphisms of the XRCC3 C722T and the RAD51 G135C genes and the risk of head and neck cancer in a Polish population

artículo científico publicado en 2010

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

scientific article published on 13 July 2020

SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression

artículo científico publicado en 2016

Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.

artículo científico publicado en 2016

The -2518 A/G MCP-1 Polymorphism as a Risk Factor of Inflammatory Bowel Disease ⬇️

artículo científico publicado el 1 de mayo de 2012

The lL-8 and IL-13 gene polymorphisms in inflammatory bowel disease and colorectal cancer

artículo científico publicado en 2012

Lista de obras de Anna Walczak

A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.

An association of the MCP-1 and CCR2 single nucleotide polymorphisms with colorectal cancer prevalence

Analysis of the polymorphic variants of RAN and GEMIN3 genes and risk of Primary Open-Angle Glaucoma in the Polish population

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations.

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

DNA damage and repair of head and neck cancer cells after radio- and chemotherapy

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

Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features

Evaluation of DNA double strand breaks repair efficiency in head and neck cancer

Evaluation of polymorphisms in microRNA biosynthesis genes and risk of laryngeal cancer in the Polish population

Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation

Exome sequencing reveals mutations inMFN2andGDAP1in severe Charcot-Marie-Tooth disease

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

Inverse association between obesity predisposing FTO genotype and completed suicide

KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy

Melatonin reduces oxidative stress in the erythrocytes of multiple sclerosis patients with secondary progressive clinical course

MicroRNAs in glaucoma and neurodegenerative diseases

Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines

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

Oxidative modification of patient's plasma proteins and its role in pathogenesis of multiple sclerosis

Polymorphisms of the XRCC3 C722T and the RAD51 G135C genes and the risk of head and neck cancer in a Polish population

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

SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression

Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.

The -2518 A/G MCP-1 Polymorphism as a Risk Factor of Inflammatory Bowel Disease ⬇️

The lL-8 and IL-13 gene polymorphisms in inflammatory bowel disease and colorectal cancer