List of works - Urszula Lechowicz

Analysis of causes and treatment of hearing loss in children from Department of Infant Diseases the Children's Memorial Health Institute, Warsaw

scientific article published in January 2011

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

Audio profiles in mitochondrial deafness m.1555A>G and m.3243A>G show distinct differences

scientific article

Case report: Rare among ultrarare—Clinical odyssey of a new patient with Ogden syndrome

scientific article published on 05 September 2022

Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy

scientific article published on 25 September 2017

FGFR1-4 RNA-Based Gene Alteration and Expression Analysis in Squamous Non-Small Cell Lung Cancer

scientific article published on 10 September 2022

Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen

scientific article

Longrange PCR-based next-generation sequencing in pharmacokinetics and pharmacodynamics study of propofol among patients under general anaesthesia.

scientific article published on 13 November 2017

MTHFR 677T is a strong determinant of the degree of hearing loss among Polish males with postlingual sensorineural hearing impairment

scientific article

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

Next-Generation Sequencing of 5' Untranslated Region of Hepatitis C Virus in Search of Minor Viral Variant in a Patient Who Revealed New Genotype While on Antiviral Treatment

scientific article published on 9 January 2016

Next-generation sequencing (NGS) in the identification of encephalitis-causing viruses: Unexpected detection of human herpesvirus 1 while searching for RNA pathogens.

scientific article

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

scientific article

Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.

scientific article

Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss

scientific article published on 14 August 2019

Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss.

scientific article published on 25 September 2015

Pathology of mitochondria in MELAS syndrome: an ultrastructural study.

scientific article

Post-Translational Modifications of Circulating Alpha-1-Antitrypsin Protein

scientific article published on 02 December 2020

Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype

scientific article

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

Tinnitus in patients with hearing loss due to mitochondrial DNA pathogenic variants

scholarly article by Urszula Lechowicz et al published August 2018 in European Archives of Oto-Rhino-Laryngology

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss

scientific article published on 2 December 2017

List of works by Urszula Lechowicz

Analysis of causes and treatment of hearing loss in children from Department of Infant Diseases the Children's Memorial Health Institute, Warsaw

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

Audio profiles in mitochondrial deafness m.1555A>G and m.3243A>G show distinct differences

Case report: Rare among ultrarare—Clinical odyssey of a new patient with Ogden syndrome

Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy

FGFR1-4 RNA-Based Gene Alteration and Expression Analysis in Squamous Non-Small Cell Lung Cancer

Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen

Longrange PCR-based next-generation sequencing in pharmacokinetics and pharmacodynamics study of propofol among patients under general anaesthesia.

MTHFR 677T is a strong determinant of the degree of hearing loss among Polish males with postlingual sensorineural hearing impairment

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

Next-Generation Sequencing of 5' Untranslated Region of Hepatitis C Virus in Search of Minor Viral Variant in a Patient Who Revealed New Genotype While on Antiviral Treatment

Next-generation sequencing (NGS) in the identification of encephalitis-causing viruses: Unexpected detection of human herpesvirus 1 while searching for RNA pathogens.

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

Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.

Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss

Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss.

Pathology of mitochondria in MELAS syndrome: an ultrastructural study.

Post-Translational Modifications of Circulating Alpha-1-Antitrypsin Protein

Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype

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

Tinnitus in patients with hearing loss due to mitochondrial DNA pathogenic variants

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss