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List of works by Bettina Burger

A leaky voltage sensor domain of cardiac sodium channels causes arrhythmias associated with dilated cardiomyopathy

scientific article published in Scientific Reports

A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia

scientific article

Arginine- but not alanine-rich carboxy-termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti

scientific article published on 22 October 2019

Biophysical, Molecular, and Pharmacological Characterization of Voltage-Dependent Sodium Channels From Induced Pluripotent Stem Cell-Derived Cardiomyocytes

scientific article published on 11 October 2016

Buschke-Ollendorff syndrome in a three-generation family: influence of a novel LEMD3 mutation to tropoelastin expression

scientific article published on August 24, 2010

Description of the natural course and clinical manifestations of ichthyosis with confetti caused by a novel KRT10 mutation.

scientific article published on 5 December 2011

Detection of Merkel cell polyomavirus in epidermodysplasia-verruciformis-associated skin neoplasms.

scientific article published on 24 November 2010

Epidermodysplasia Verruciformis: Inborn Errors of Immunity to Human Beta-Papillomaviruses.

scientific article published on 12 June 2018

Epidermodysplasia verruciformis

scientific article published on 17 March 2014

Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature.

scientific article

Gene expression is stable in a complete CIB1 knockout keratinocyte model

scientific article published on 11 September 2020

HIV-positive child with epidermodysplasia verruciformis-like lesions and homozygous mutation in TMC6 ⬇️

scientific article published on November 13, 2010

Homozygosity for the c.917A → T (p.N306l) Polymorphism in the EVER2/TMC8 Gene of Two Sisters with Epidermodysplasia Verruciformis Lewandowsky-Lutz Originally Described by Wilhelm Lutz ⬇️

scientific article published on December 29, 2010

Immune-regulatory genes as possible modifiers of familial pityriasis rubra pilaris - lessons from a family with PRP and psoriasis

scientific article published on 24 July 2018

Increased epidermal expression and absence of mutations in CARD14 in a series of patients with sporadic pityriasis rubra pilaris

scientific article published on 01 May 2014

Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers

scientific article published on 13 June 2002

Lipid peroxidation as additional marker in patients with colorectal cancer. Results of a preliminary study.

scientific article published in September 2002

MicroRNA expression differs in cutaneous squamous cell carcinomas and healthy skin of immunocompetent individuals ⬇️

scientific article published on June 1, 2013

Mild clinical phenotype of Kindler syndrome associated with late diagnosis and skin cancer.

scientific article published on 11 October 2010

Muir-Torre syndrome

scientific article published on 02 April 2008

Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes

article

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: intrafamilial overlap of phenotypes in patients with the same KRT14 frameshift variant

scientific article published on 15 July 2019

Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease.

scientific article

Novel de novo mutation of MADH4/SMAD4 in a patient with juvenile polyposis

scientific article published on 01 July 2002

Prevalence of Skin Lesions in Familial Adenomatous Polyposis: A Marker for Presymptomatic Diagnosis? ⬇️

scientific article published on January 1, 2011

Risk of Cutaneous Squamous Cell Carcinoma Development in Renal Transplant Recipients Is Independent of TMC/EVER Alterations

scientific article published on 28 July 2015

SDHA gain-of-function engages inflammatory mitochondrial retrograde signaling via KEAP1-Nrf2

scientific article published on 16 September 2019

Spontaneous fading of reticular pigmentation in Naegeli-Franceschetti-Jadassohn syndrome

scientific article published on 26 June 2010

The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses

scientific article published on 01 August 2018

The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3' end of KRT10: from disease to a syndrome

scientific article published on 01 January 2015

The use of a colon cancer associated nuclear antigen CCSA-2 for the blood based detection of colon cancer

article

[Genodermatoses for practitioners--principles and concepts]

scientific article published on 01 September 2010

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