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List of works by Małgorzata Rydzanicz

A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation

scientific article published on 17 October 2018

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

scientific article

A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.

scientific article

A rare mutation in a rare tumor-SMARCB1-deficient malignant glomus tumor

A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations

scientific article published on 3 April 2015

A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene

scientific article published on 08 January 2019

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

scientific article published on 12 March 2020

Accumulation of sequence variants in genes of Wnt signaling and focal adhesion pathways in human corneas further explains their involvement in keratoconus

scientific article published on 14 April 2020

Altered Levels of Proteins and Phosphoproteins, in the Absence of Early Causative Transcriptional Changes, Shape the Molecular Pathogenesis in the Brain of Young Presymptomatic Ki91 SCA3/MJD Mouse.

scientific article published on 14 June 2019

Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes

scientific article published on 29 January 2020

Analysis of Mutational Profile of Hypopharyngeal and Laryngeal Head and Neck Squamous Cell Carcinomas Identifies <i>KMT2C</i> as a Potential Tumor Suppressor

scientific article published on 19 May 2022

Answer to Finsterer about "Multisystem presentation of a homozygous POLG2 variant"

scientific article published on 09 March 2020

Application of next‑generation sequencing to identify mitochondrial mutations: Study on m.7511T>C in patients with hearing loss

scientific article published on 15 November 2017

Array-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype

scientific article published on 21 May 2015

Association of polymorphisms and haplotypes of the NBN gene with laryngeal cancer and multiple primary tumors of the head and neck

scientific article published on 5 April 2011

Author Correction: Hybrid de novo whole-genome assembly and annotation of the model tapeworm Hymenolepis diminuta

scientific article published on 10 February 2020

Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.

scientific article published on 16 August 2017

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

scientific article

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

scientific article published on 08 June 2016

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

scientific article published in January 2016

Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith–Kingsmore Phenotype with Recurrent Hypoglycemia—A Novel Phenotype and a Further Proof for Testing of an Affected Tissue

scientific article published on 15 July 2021

Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype.

scientific article

CYP1A1, CYP2D6, CYP2E1, NAT2, GSTM1 and GSTT1 polymorphisms or their combinations are associated with the increased risk of the laryngeal squamous cell carcinoma.

scientific article published on 15 April 2005

Changes in Nuclear Gene Expression Related to Mitochondrial Function Affect Extracellular Matrix, Collagens, and Focal Adhesion in Keratoconus

scientific article published on 01 September 2021

Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2

scientific article published on 01 October 2019

Chromosomal gains and losses indicate oncogene and tumor suppressor gene candidates in salivary gland tumors

article

Chromosome alterations reflect clonal evolution in squamous cell carcinoma of the larynx

scientific article published in July 2002

Clinico-pathological correlation in case of BRAT1 mutation

scientific article published on 01 January 2018

Collagen synthesis disruption and downregulation of core elements of TGF-β, Hippo, and Wnt pathways in keratoconus corneas

scientific article

Comparison of different deafening strategies based on ototoxic drugs on mouse animals model

scientific article published in January 2012

Comparison of rehabilitation results in deaf patients with and without genetically related hearing loss.

scientific article published in September 2008

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

scientific article published on 4 February 2016

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

scientific article

Contribution of polymorphism in codon 72 of TP53 gene to laryngeal cancer in Polish patients.

scientific article published on 16 December 2008

Cryptic MYC insertions in Burkitt lymphoma: New data and a review of the literature

scientific article published on 15 February 2022

Cyclin D1 gene (CCND1) polymorphism and the risk of squamous cell carcinoma of the larynx

scientific article published on 29 October 2005

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration

scientific article published on 05 August 2020

Developmental delay with hypotrophy associated with homozygous functionally relevant REV3L variant

scientific article published on 20 January 2021

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

scientific article published on 13 June 2018

Distribution of alcohol dehydrogenase (ADH1C) genotypes in subjects with tobacco smoke-associated laryngeal cancer

scientific article published in January 2008

Diversified expression of aryl hydrocarbon receptor dependent genes in human laryngeal squamous cell carcinoma cell lines treated with β-naphthoflavone.

scientific article published on 8 September 2014

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

scientific article published in March 2018

Erratum to: Simple technique for RNA purification from mouse inner ear hair cells

scientific article

Evidence against ZNF469 being causative for keratoconus in Polish patients

scientific article

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

article

Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy.

scientific article

FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects

scientific article published on 06 August 2019

FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy

scientific article published on 10 July 2019

Frequent chromosome Y loss in primary, second primary and metastatic squamous cell carcinomas of the head and neck region

article

Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the Gene

Further evaluation of differential expression of keratoconus candidate genes in human corneas

scientific article published on 20 August 2020

Gene Expression Profile of Human Mesenchymal Stromal Cells Exposed to Hypoxic and Pseudohypoxic Preconditioning—An Analysis by RNA Sequencing ⬇️

journal article from 'International Journal of Molecular Sciences' published in 2021

Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland

scientific article published on 21 November 2019

Genomic landscape of human erythroleukemia K562 cell line, as determined by next-generation sequencing and cytogenetics

Genomics and epigenomics of clear cell renal cell carcinoma: recent developments and potential applications

scientific article published on 07 August 2013

Genotoxicity of inhalation anaesthetics: DNA lesions generated by sevoflurane in vitro and in vivo.

scientific article

Germline missense NF1 mutation in an elderly patient with a blastic plasmacytoid dendritic cell neoplasm

scientific article published on 11 April 2019

Harnessing the potential of the environmental microbiome in forensic science

scientific article published in 2021

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

article

Human Pegivirus in Patients with Encephalitis of Unclear Etiology, Poland

article

Hybrid de novo whole-genome assembly and annotation of the model tapeworm Hymenolepis diminuta

scientific article published on 03 December 2019

IGF-1 gene polymorphisms in Polish families with high-grade myopia

scientific article

Identification of candidate genes and mutations in QTL regions for immune responses in chicken

scientific article published on 05 March 2015

Identification of novel suggestive loci for high-grade myopia in Polish families

scientific article published on 22 July 2011

Incidence of multiple (second) primary tumors of head and neck following tobacco smoking

scientific article published in January 2005

Increased risk of larynx cancer in heterozygous carriers of the I171V mutation of the NBS1 gene.

scientific article

Induction of expression of aryl hydrocarbon receptor-dependent genes in human HepaRG cell line modified by shRNA and treated with β-naphthoflavone

scientific article published on 28 October 2016

Influence of genetic polymorphisms on biomarkers of exposure and effects in children living in Upper Silesia.

scientific article published on 18 July 2013

Intracardiac tumor as a rare manifestation of genetic syndromes-presentation of a family with Gorlin syndrome and a literature review

scientific article published on 22 September 2020

Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression.

scientific article published on 15 March 2017

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

scientific article published on 14 July 2016

KTCNlncDB-a first platform to investigate lncRNAs expressed in human keratoconus and non-keratoconus corneas.

scientific article published on 10 January 2017

Leukoencephalopathy with Calcifications and Cysts-The First Polish Patient with Labrune Syndrome

scientific article published on 18 November 2020

Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.

scientific article

Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant

scientific article published on 29 February 2016

Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to , and as novel candidates for genes causing human Mendelian disorders

article

Metagenomic Analysis of Cerebrospinal Fluid from Patients with Multiple Sclerosis

scientific article published on 17 June 2016

Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.

scientific article published on 18 October 2017

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants

scientific article published on 18 October 2019

Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases

scientific article published on 20 December 2018

Multiple Differentially Methylated Regions Specific to Keratoconus Explain Known Keratoconus Linkage Loci

scientific article published on 01 April 2019

Mutation analysis of mitochondrial 12S rRNA gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss.

scientific article published on 28 March 2010

Mutational Analysis of Recurrent Meningioma Progressing From Atypical to Rhabdoid Subtype.

scientific article published on 15 October 2016

Mutational analysis of CDKN2A gene in a group of 390 larynx cancer patients

scientific article published on 19 August 2009

Mutational screening of the mitochondrial 12S rRNA gene in Polish patients with aminoglycoside-induced hearing loss

scientific article published in July 2011

Mutations in proteasome-related genes are associated with thyroid hemiagenesis

scientific article

Mutations of tumor suppressor gemne TP53 in tobacco smoke-associated tumors

scientific article published in January 2009

Myopia in systemic disorders

scientific article published in January 2009

Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?

scientific article published on 24 January 2019

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

scientific article published on 11 October 2018

New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation.

scientific article

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

scientific article

Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

scientific article published on 4 May 2016

Next-generation sequencing in the diagnosis of viral encephalitis: sensitivity and clinical limitations

scientific article published on 30 September 2020

Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes

scientific article published on 16 July 2021

Nonrandom DNA copy number changes related to lymph node metastases in squamous cell carcinoma of the lung

scientific article published on 01 January 2008

Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy

scientific article published on 28 March 2019

Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review

scientific article published on 22 November 2017

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.

scientific article

Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression

scientific article published on 25 September 2018

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

scientific article

Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus.

scientific article

Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.

scientific article

Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene

scientific article published on 31 January 2018

Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15.

scientific article published on 2 April 2018

Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene

scientific article published on 24 July 2020

Polymorphic variants of folate metabolism genes and the risk of laryngeal cancer

scientific article published in August 2009

Polymorphism of the DNA repair genes RAD51 and XRCC2 in smoking- and drinking-related laryngeal cancer in a Polish population

scientific article published on 19 December 2012

Polymorphisms of DNA repair genes and risk of squamous cell carcinoma of the head and neck in young adults.

scientific article published on 17 March 2012

Polymorphisms of the DNA repair genes XRCC1 and ERCC4 are not associated with smoking- and drinking-dependent larynx cancer in a Polish population

article

Predictive significance of selected gene mutations in relapsed and refractory chronic lymphocytic leukemia patients treated with ibrutinib

scientific article published on 15 November 2020

Primary progressive multiple sclerosis and neurofibromatosis type 1

scientific article published on 25 April 2019

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

scientific article published on 13 July 2020

Rearrangements involving the 13q chromosome arm committed to the progression of laryngeal squamous cell carcinoma

scientific article published on 01 August 2002

Reduced DNA Repair Capacity in Laryngeal Cancer Subjects

scholarly article published 2004

SDF1-3' a gene polymorphism is associated with laryngeal cancer.

scientific article

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

scientific article published on 4 July 2016

Screening of the general Polish population for deafness-associated mutations in mitochondrial 12S rRNA and tRNA Ser(UCN) genes.

scientific article published in April 2009

Search for Viral Infections in Cerebrospinal Fluid From Patients With Autoimmune Encephalitis

scientific article published on 07 October 2020

Search for viral agents in cerebrospinal fluid in patients with multiple sclerosis using real-time PCR and metagenomics

scientific article published on 28 October 2020

Second primary tumors (SPT) of head and neck: distinguishing of "true" SPT from micrometastasis by LOH analysis of selected chromosome regions.

scientific article published on January 2005

Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus

scientific article

Simple technique for RNA purification from mouse inner ear hair cells

scientific article

Single median maxillary central incisor syndrome and variant in SMO gene associated with SHH pathway

scientific article published on 13 April 2020

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

scientific article published on 22 April 2016

Sudden cardiac arrest in patients without overt heart disease: limited value of next generation sequencing

scientific article published on 07 November 2018

Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interaction

scientific article published on 06 August 2019

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

The Cys326 allele of the 8-oxoguanine DNA N-glycosylase 1 gene as a risk factor in smoking- and drinking-associated larynx cancer

scientific article published in December 2009

The MRN protein complex genes: MRE11 and RAD50 and susceptibility to head and neck cancers

scientific article published on 30 September 2013

The RNA-Binding Landscape of HAX1 Protein Indicates Its Involvement in Translation and Ribosome Assembly

The contribution of the mitochondrial COI/tRNA(Ser(UCN)) gene mutations to non-syndromic and aminoglycoside-induced hearing loss in Polish patients

scientific article published on 13 May 2011

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

scientific article published on 10 November 2018

The impact of genetic factors on the incidence of multiple primary tumors (MPT) of the head and neck

scientific article published on 01 June 2005

The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene

article

Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations

scientific article

Tyrosine kinase inhibitor-induced defects in DNA repair sensitize FLT3(ITD)-positive leukemia cells to PARP1 inhibitors.

scientific article

Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications

scientific article published on 14 December 2020

Variant c.2262A>C in DOCK9 Leads to Exon Skipping in Keratoconus Family

scientific article published in December 2015

Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion

scientific article published on 26 November 2019

Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes

scientific article published on 10 November 2020

[An analysis of the fundus changes in families with high myopia]

scientific article published on 01 January 2007

[Analysis of molecular background of hereditary haemorrhagic telangiectasia--Rendu-Osler-Weber disease--preliminary results].

scientific article

[Mutations in mitochondrial DNA in ocular diseases--Leher's hereditary optic neuropathy and Kearns' syndrome]

scientific article published on 01 January 2008

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