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List of works by Cristina Has

'Double trouble': diagnostic challenges in genetic skin disorders

scientific article published on 17 December 2014

A COL7A1 variant leading to in-frame skipping of exon 15 attenuates disease severity in recessive dystrophic epidermolysis bullosa

scientific article published on 26 August 2015

A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases

scientific article published on 17 June 2015

A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation

scientific article published on 11 May 2019

A Silent COL17A1 Variant Alters Splicing and Causes Junctional Epidermolysis Bullosa

scientific article published on 01 April 2019

A case of Kindler syndrome with severe esophageal stenosis

scientific article published on 29 December 2014

A childhood subepidermal autoimmune bullous disease resembling mechanobullous epidermolysis bullosa acquisita

scientific article published on 26 July 2015

A multistep approach to the diagnosis of rare genodermatoses

scientific article

A novel IKBKG mutation in a patient with incontinentia pigmenti and features of hepatic ciliopathy.

scientific article published on 8 March 2018

A novel large FERMT1 (KIND1) gene deletion in Kindler syndrome

scientific article published on 01 October 2008

A novel mutation in the FERMT1 gene in Turkish siblings with Kindler syndrome

scientific article published on 10 April 2015

A unique LAMB3 splice-site mutation with founder effect from the Balkans causes lethal epidermolysis bullosa in several European countries

scientific article published on 7 April 2016

APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa

scientific article published on 01 August 2018

Absence of the Integrin α3 Subunit Induces an Activated Phenotype in Human Keratinocytes

scientific article published on 03 February 2017

Acral lamellar Ichthyosis - expanding the phenotype of temperature-sensitive keratinization disorders

scientific article published on 19 December 2017

Acromelanosis albo-punctata: a distinct inherited dermatosis with acral spotty dyspigmentation without systemic involvement.

scientific article published on 19 June 2012

Advances in understanding the molecular basis of skin fragility.

scientific article published on 6 March 2018

Alitretinoin in punctate palmoplantar keratoderma

scientific article published on 19 December 2018

Altered Notch signaling in Dowling-Degos disease: Additional mutations in POGLUT1 and further insights into disease pathogenesis

scientific article published on 09 November 2018

Amino acid duplication in the coiled-coil structure of collagen XVII alters its maturation and trimerization causing mild junctional epidermolysis bullosa

scientific article published in February 2017

Amino acid substitution in the C-terminal domain of collagen XVII reduces laminin-332 interaction causing mild skin fragility with atrophic scarring

scientific article published on 12 October 2018

An unusual type of telangiectatic naevus with underlying and surrounding dilated veins: report of four cases

scientific article published on 18 December 2019

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients

scientific article published on 24 July 2019

Betulin-Based Oleogel to Improve Wound Healing in Dystrophic Epidermolysis Bullosa: A Prospective Controlled Proof-of-Concept Study

scientific article

Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out"

scientific article published on 11 July 2019

Biologika-Therapie mit Anti-IL-17A-Antikörper verbessert kongenitale ichthyosiforme Verhornungsstörung

scientific article published on 01 January 2019

Blaschko line acne on pre-existent hypomelanosis reflecting a mosaic FGFR2 mutation.

scientific article published on 5 March 2015

Burnlike scars: A sign suggestive of KLHL24-related epidermolysis bullosa simplex

scientific article published on 25 March 2018

C-terminal truncation impairs glycosylation of transmembrane collagen XVII and leads to intracellular accumulation

scientific article published on 09 August 2006

CRISPR/Cas9-Mediated In Situ Correction of LAMB3 Gene in Keratinocytes Derived from a Junctional Epidermolysis Bullosa Patient

article

Cell‐based therapies for epidermolysis bullosa – from bench to bedside

scientific article published on November 1, 2012

Chronic colitis due to an epithelial barrier defect: the role of kindlin-1 isoforms.

scientific article published in December 2007

Chronic tissue damage: a common pathomechanism of genodermatoses

scientific article published on 01 July 2019

Clinical Practice Guidelines for Epidermolysis Bullosa Laboratory Diagnosis

scientific article published on 09 August 2019

Combined anti-inflammatory and low-dose antiproliferative therapy for squamous cell carcinomas in recessive dystrophic epidermolysis bullosa

scientific article published on 02 September 2019

Compound heterozygosity for dominant and recessive DSG1 mutations in a patient with atypical SAM syndrome (severe dermatitis, multiple allergies, metabolic wasting)

scientific article published on 07 November 2016

Confirmation of Psoriasis Susceptibility Loci on Chromosome 6p21 and 20p13 in French Families

scientific article published in June 2007

Congenital bullous poikiloderma (Kindler syndrome) - new mutation

scholarly article by Larissa Lennartz et al published 18 October 2012 in JDDG

Congenital bullous poikiloderma (Kindler syndrome) - new mutation

scientific article published on 18 October 2012

Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects)

scientific article published on March 27, 2012

Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

scientific article published on 04 February 2020

Consistency of the proteome in primary human keratinocytes with respect to gender, age, and skin localization

scientific article published on 30 May 2013

Constitutional absence of epithelial integrin α3 impacts the composition of the cellular microenvironment of ILNEB keratinocytes

article

Crucial role of posttranslational modifications of integrin α3 in interstitial lung disease and nephrotic syndrome

scientific article published on 25 March 2015

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

Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.

scientific article published on March 2015

Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations

scientific article published on 28 June 2008

Editorial: Skin Blistering Diseases

scientific article published on 02 April 2019

Ein neues Forum für seltene Hauterkrankungen

scientific article published on 01 June 2019

Epidemiology of inherited epidermolysis bullosa in Romania and genotype-phenotype correlations in patients with dystrophic epidermolysis bullosa.

scientific article published on 8 September 2014

Epidermal Basement Membrane in Health and Disease.

scientific article

Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy

scientific article published on 16 August 2018

Epidermolysis bullosa

Epidermolysis bullosa pruriginosa due to a glycine substitution mutation in the COL7A1-gene

scientific article published on 01 January 2006

Epidermolysis bullosa simplex ogna revisited.

scientific article

Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype-phenotype correlation and in silico modeling analysis

scientific article published on 04 December 2018

Epidermolysis bullosa simplex: greater penetrance due to a keratin 5 gene variant.

scientific article published on 8 June 2013

Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone

scientific article published on 05 April 2018

Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.

scientific article

Extending the phenotypic spectrum associated with mosaicism for GJB2 mutations

scientific article published on 12 May 2019

Extensive postzygotic mosaicism for a novel keratin 10 mutation in epidermolytic ichthyosis

scientific article published on 01 May 2014

FERMT1 promoter mutations in patients with Kindler syndrome

article

Flightless I, a contributing factor to skin blistering in Kindler syndrome patients?

scientific article published on 06 November 2019

Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort

scientific article published on 05 June 2009

Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hünermann-Happle syndrome.

scientific article published in May 2002

Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4

scientific article published on 06 September 2019

Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa.

scientific article published on 29 June 2016

Hemidesmosomes: how much plakins do they need?

scientific article published on 26 February 2016

Homozygous Nonsense Mutation and Additional Deletion of an Amino Acid in BPAG1e Causing Mild Localized Epidermolysis Bullosa Simplex

scientific article published on 01 May 2017

Incontinentia pigmenti in a newborn with a novel nonsense mutation in the NEMO gene

scientific article published on 01 February 2007

Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes

scientific article published on 28 June 2018

Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification

scientific article

Integra®-Dermal Regeneration Template and Split-Thickness Skin Grafting: A Therapy Approach to Correct Aplasia Cutis Congenita and Epidermolysis Bullosa in Carmi Syndrome.

scientific article

Intronic ITGA3 Mutation Impacts Splicing Regulation and Causes Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa

scientific article published on 15 February 2016

Isolation and Culture of Epidermolysis Bullosa Cells and Organotypic Skin Models

scientific article published on 01 January 2019

Junctional Epidermolysis Bullosa: Allelic Heterogeneity and Mutation Stratification for Precision Medicine

scientific article published on 01 January 2018

Junctional epidermolysis bullosa with LAMB3 splice-site mutations.

scientific article published on 24 February 2015

KLHL16 Degrades Epidermal Keratins

scientific article published on 23 February 2018

Kindler syndrome in a patient with colitis and primary sclerosing cholangitis: coincidence or association?

scientific article published on 15 March 2018

Kindler syndrome with severe mucosal involvement in childhood

scientific article published on 01 April 2014

Kindler syndrome: a rare case report from Greece

scientific article published on 25 February 2019

Lack of effect of topical statins in linear porokeratosis

scientific article published on 19 June 2020

Large deletions targeting the triple-helical domain of collagen VII lead to mild acral dominant dystrophic epidermolysis bullosa.

scientific article published on 24 November 2017

Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies.

scientific article published on 28 November 2014

Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.

scientific article published on 27 February 2014

Mild recessive dystrophic epidermolysis bullosa associated with two compound heterozygous COL7A1 mutations

scientific article published on March 1, 2011

Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020

scientific article published on 23 April 2020

Molecular and diagnostic aspects of genetic skin fragility.

scientific article published on 22 September 2006

Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.

scientific article

Molecular genetic assays for inherited epidermolysis bullosa

scientific article published on 01 July 2011

Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations

scientific article published on 4 September 2013

Molecular pathology of the basement membrane zone in heritable blistering diseases:: The paradigm of epidermolysis bullosa.

scientific article

Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility

scientific journal article

Mosaicism in the skin: lumping or splitting?

scientific article published on 01 January 2017

Multiple facets of desmoglein 1 mutations

scientific article published on 01 September 2018

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency

scientific article published on 18 November 2018

Natural history and clinical outcome of junctional epidermolysis bullosa generalized intermediate due to a LAMA3 mutation.

scientific article

Natural history of growth and anaemia in children with epidermolysis bullosa: a retrospective cohort study

scientific article published on 05 September 2019

Natürlicher Verlauf des Kindler-Syndroms und Neigung zu Hautkrebs - Fallbericht und Literaturübersicht

scientific article published on 01 March 2018

Novel and recurrent AAGAB mutations: clinical variability and molecular consequences.

scientific article published on 5 April 2013

Novel and recurrent KIND1 mutations in two patients with Kindler syndrome and severe mucosal involvement

scientific article published on 01 January 2007

Novel keratin 14 mutations in patients with severe recessive epidermolysis bullosa simplex

scientific article published on 13 April 2006

Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda.

scientific article

Oxidative stress and mitochondrial dysfunction in Kindler syndrome

scientific article

PORCN mutations in focal dermal hypoplasia: coping with lethality

scientific article published in May 2009

Peeling Skin Disorders: A Paradigm for Skin Desquamation

scientific article published on 01 August 2018

Phased-array of microcoils allows MR microscopy of ex vivo human skin samples at 9.4 T.

scientific article published on 26 July 2014

Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases

article

Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations

scientific article

Postzygotic HRAS mutation in heterochromia of straight scalp hair

scientific article published on 11 July 2019

Practical aspects of molecular diagnostics in genodermatoses

scientific article published in January 2016

Processing of the laminin-332 α chain: from bedside to bench

scientific article published on 01 May 2014

Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy

scientific article published on 01 April 2022

Recurrent MVD mutation in European patients with disseminated porokeratosis

scientific article published on 07 August 2020

Recurring staphylococcal scalded skin syndrome-like bullous mastocytosis: the utility of cytodiagnosis and the rapid regression with steroids.

scientific article published on May 2002

Research Techniques Made Simple: Immunofluorescence Antigen Mapping in Epidermolysis Bullosa

scientific article

RhoA activation by CNFy restores cell-cell adhesion in kindlin-2-deficient keratinocytes.

scientific article published on 12 May 2014

Secukinumab for the treatment of SAM syndrome associated with desmoglein-1 deficiency

scientific article published on 18 November 2020

Single Amino Acid Deletion in Kindlin-1 Results in Partial Protein Degradation Which Can Be Rescued by Chaperone Treatment

scientific article published on 28 January 2016

Skin fragility caused by biallelic KRT10 mutations: an intriguing form of self-improving epidermolytic ichthyosis

scientific article published on 26 September 2019

Successful Multidisciplinary Treatment of Chronic Facial Wounds in Junctional Epidermolysis Bullosa

scientific article published on 01 July 2018

Target-sequence Capture and High Throughput Sequencing Identify a De novo CARD14 Mutation in an Infant with Erythrodermic Pityriasis Rubra Pilaris.

scientific article

Targeting epidermal lipids for treatment of Mendelian disorders of cornification.

scientific article published on 07 March 2014

The "Kelch" Surprise: KLHL24, a New Player in the Pathogenesis of Skin Fragility

scientific article published in June 2017

The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism

scientific article published on 01 August 2000

The Position of Targeted Next-generation Sequencing in Epidermo-lysis Bullosa Diagnosis

scientific article

The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome

scientific article published on 04 September 2013

The mysteries of mosaicism: phenotypic variability in a family with incontinentia pigmenti.

scientific article published on 13 June 2016

Therapies for inherited skin fragility disorders.

scientific article published on May 2015

UV-B-induced cutaneous inflammation and prospects for antioxidant treatment in Kindler syndrome.

scientific article published on 23 October 2016

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

scientific article published on 20 October 2014

Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn

scientific article published on 30 January 2020

Verrucous carcinoma in epidermolysis bullosa simplex is possibly associated with a novel mutation in the keratin 5 gene

scientific article published on September 7, 2012

Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations

scientific article published on 11 November 2014

[Hereditary blistering disorders]

scientific article published on 01 October 2004

[Hereditary photodermatoses]

scientific article published on 01 December 2006

[Rare diseases are common]

scientific article published on 01 June 2014

[Role of the dermatologist in recognizing syndromes]

scientific article published on 01 July 2019

[Rudolf Happle celebrates his 80th birthday]

scientific article published on 01 April 2018

[Syndromes with skin fragility]

scientific article published on 01 July 2019

[The many facets of inherited skin fragility]

scientific article published on 01 June 2014