List of works - Katarzyna Wertheim-Tysarowska

A novel de novo mutation p.Ala428Asp in KRT5 gene as a cause of localized epidermolysis bullosa simplex

scientific article published on 20 May 2019

A novel p.Ser282Pro variant is associated with autosomal dominant hereditary pancreatitis

scientific article published on 03 March 2017

Amelioration of junctional epidermolysis bullosa due to exon skipping.

scientific article

CHRONIC PANCREATITIS IN A PATIENT WITH THE p.Asn34Ser HOMOZYGOUS SPINK1 MUTATION--OWN EXPERIENCE.

scientific article published in July 2015

Chymotrypsinogen C Genetic Variants, Including c.180TT, Are Strongly Associated With Chronic Pancreatitis in Pediatric Patients.

scientific article published on 29 September 2017

Clinical Practice Guidelines for Epidermolysis Bullosa Laboratory Diagnosis

scientific article published on 09 August 2019

Clinical characteristics of rare CFTR mutations causing cystic fibrosis in Polish population

scientific article published on 22 May 2020

Coexistence of KRT14 and KRT5 mutations in a Polish patient with epidermolysis bullosa simplex

scientific article published on 01 February 2014

Cystic fibrosis emerging therapies

scientific article published on January 2014

Disease-specific databases: why we need them and some recommendations from the Human Variome Project Meeting, May 28, 2011.

scientific article

Epidermal barrier - molecular structure and disorders in selected ichthyoses

scientific article published in January 2016

Gene conversion between cationic trypsinogen (PRSS1) and the pseudogene trypsinogen 6 (PRSS3P2) in patients with chronic pancreatitis

scientific article

Genetic analysis in inherited metabolic disorders--from diagnosis to treatment. Own experience, current state of knowledge and perspectives

scientific article published on January 2015

Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single family.

scientific article published on 18 November 2017

Hypercalciuria in a child with acral peeling skin syndrome: a case report

scientific article published in January 2015

Inherited skin diseases - a review of selected genodermatoses

scientific article published on 01 July 2012

Is c.1431-12G>A A common European mutation of SPINK5? report of a patient with Netherton Syndrome

scientific article published on December 2016

Lipoid proteinosis: a first report of mutation Val10Gly in the signal peptide of the ECM1 gene.

scientific article published on 24 April 2018

Loss of function TRPV6 variants are associated with chronic pancreatitis in nonalcoholic early-onset Polish and German patients

scientific article published in December 2021

Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy

scientific article

Novel KRT14 mutation causing epidermolysis bullosa simplex with variable phenotype.

scientific article published in September 2014

Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations

scientific article published on 01 December 2019

Novel and recurrent COL7A1 mutation in a Polish population

scientific article published on 01 January 2012

Novel and recurrent variants of ATP2C1 identified in patients with Hailey-Hailey disease

scientific article published on 25 January 2020

Novel de novo large deletion in cystic fibrosis transmembrane conductance regulator gene results in a severe cystic fibrosis phenotype.

scientific article

Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation

scientific article published on 2 October 2015

Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics

scientific article

The COL7A1 mutation database.

scientific article published on 20 December 2011

The Etiology and Clinical Course of Chronic Pancreatitis in Children With Early Onset of the Disease.

scientific article published on 24 September 2016

The clinical course of hereditary pancreatitis in children - A comprehensive analysis of 41 cases.

scientific article

The genetic basis of classical galactosaemia in Polish patients

scientific article published on 24 May 2021

The hybrid allele 1 of carboxyl-ester lipase (CEL-HYB1) in Polish pediatric patients with chronic pancreatitis

scientific article published on 26 April 2019

The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role

scientific article published on 20 May 2022

Transient bullous lesions - a case of de novo mutation in the COL7A1 gene in patient with Epidermolysis bullosa dystrophica

scientific article published on 01 April 2011

Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations

scientific article published on 20 October 2014

[Genodermatoses - pathogenesis and molecular diagnostics]

scientific article published on 01 December 2018

List of works by Katarzyna Wertheim-Tysarowska

A novel de novo mutation p.Ala428Asp in KRT5 gene as a cause of localized epidermolysis bullosa simplex

A novel p.Ser282Pro variant is associated with autosomal dominant hereditary pancreatitis

Amelioration of junctional epidermolysis bullosa due to exon skipping.

CHRONIC PANCREATITIS IN A PATIENT WITH THE p.Asn34Ser HOMOZYGOUS SPINK1 MUTATION--OWN EXPERIENCE.

Chymotrypsinogen C Genetic Variants, Including c.180TT, Are Strongly Associated With Chronic Pancreatitis in Pediatric Patients.

Clinical Practice Guidelines for Epidermolysis Bullosa Laboratory Diagnosis

Clinical characteristics of rare CFTR mutations causing cystic fibrosis in Polish population

Coexistence of KRT14 and KRT5 mutations in a Polish patient with epidermolysis bullosa simplex

Cystic fibrosis emerging therapies

Disease-specific databases: why we need them and some recommendations from the Human Variome Project Meeting, May 28, 2011.

Epidermal barrier - molecular structure and disorders in selected ichthyoses

Gene conversion between cationic trypsinogen (PRSS1) and the pseudogene trypsinogen 6 (PRSS3P2) in patients with chronic pancreatitis

Genetic analysis in inherited metabolic disorders--from diagnosis to treatment. Own experience, current state of knowledge and perspectives

Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single family.

Hypercalciuria in a child with acral peeling skin syndrome: a case report

Inherited skin diseases - a review of selected genodermatoses

Is c.1431-12G>A A common European mutation of SPINK5? report of a patient with Netherton Syndrome

Lipoid proteinosis: a first report of mutation Val10Gly in the signal peptide of the ECM1 gene.

Loss of function TRPV6 variants are associated with chronic pancreatitis in nonalcoholic early-onset Polish and German patients

Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy

Novel KRT14 mutation causing epidermolysis bullosa simplex with variable phenotype.

Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations

Novel and recurrent COL7A1 mutation in a Polish population

Novel and recurrent variants of ATP2C1 identified in patients with Hailey-Hailey disease

Novel de novo large deletion in cystic fibrosis transmembrane conductance regulator gene results in a severe cystic fibrosis phenotype.

Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation

Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics

The COL7A1 mutation database.

The Etiology and Clinical Course of Chronic Pancreatitis in Children With Early Onset of the Disease.

The clinical course of hereditary pancreatitis in children - A comprehensive analysis of 41 cases.

The genetic basis of classical galactosaemia in Polish patients

The hybrid allele 1 of carboxyl-ester lipase (CEL-HYB1) in Polish pediatric patients with chronic pancreatitis

The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role

Transient bullous lesions - a case of de novo mutation in the COL7A1 gene in patient with Epidermolysis bullosa dystrophica

Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations

[Genodermatoses - pathogenesis and molecular diagnostics]