Lista de obras -

A Heterozygous Frameshift Mutation in the V1 Domain of Keratin 5 in a Family with Dowling–Degos Disease

article

A Retrospective Review of Clinical Problems and Interventions in Patients Attending Epidermolysis Bullosa Podiatry Clinics Highlighting the Demand and Need for Specialized Services

scientific article published on 01 November 2020

A consensus approach to wound care in epidermolysis bullosa

artículo científico publicado en 2012

A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.

artículo científico publicado en 2010

A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita

artículo científico publicado en 2007

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

artículo científico publicado en 2018

An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome

artículo científico publicado en 2003

An unusual case of epidermolysis bullosa complicated by persistent oligoarticular juvenile idiopathic arthritis; lessons to be learned

artículo científico publicado en 2011

Autosomal Recessive Epidermolysis Bullosa Simplex Due to Loss of BPAG1-e Expression

article

Basic science of epidermolysis bullosa and diagnostic and molecular characterization: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005

artículo científico publicado en 2007

Beta blockers for infantile haemangiomas: where should we go from here?

scientific article published on 01 March 2019

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

artículo científico publicado en 2017

Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa

artículo científico publicado en 2020

Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait

artículo científico publicado en 2018

Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities

artículo científico publicado en 2006

Congenital anetoderma in a preterm infant

artículo científico publicado en 2008

Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.

artículo científico publicado en 2010

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

scientific article published on 04 February 2020

Considerations in surgical management of a Buschke-Lowenstein tumor in Netherton syndrome: A case report

artículo científico publicado en 2017

Costs of UK community care for individuals with recessive dystrophic epidermolysis bullosa: Findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study

artículo científico publicado en 2024

Dermatofibrosarcoma protuberans (DFSP) in children: A combined multidisciplinary approach

artículo científico publicado en 2020

Dilated cardiomyopathy in epidermolysis bullosa: a retrospective, multicenter study.

artículo científico publicado en 2010

Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa ⬇️

artículo científico publicado el 1 de octubre de 2003

EBGene trial: patient preselection outcomes for the European GENEGRAFT ex vivo phase I/II gene therapy trial for recessive dystrophic epidermolysis bullosa

scientific article published on 27 November 2019

Ectodermal dysplasia-skin fragility syndrome.

artículo científico publicado en 2010

Ectodermal dysplasia-skin fragility syndrome: two new cases and review of this desmosomal genodermatosis

artículo científico publicado en 2020

Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases

artículo científico publicado en 2020

Epidermolysis Bullosa with Pyloric Atresia and Significant Urologic Involvement

artículo científico publicado en 2016

Epidermolysis bullosa

artículo científico publicado en 2006

Epidermolysis bullosa

Epidermolysis bullosa and chronic wounds: a model for wound bed preparation of fragile skin

artículo científico

Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR

artículo científico publicado en 2014

Extracellular vesicles as biomarkers for the detection of a tumor marker gene in epidermolysis bullosa-associated squamous cell carcinoma.

artículo científico publicado en 2017

Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues

scientific article published on September 2009

Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part II. Other organs

artículo científico publicado en 2009

Foot care in epidermolysis bullosa: evidence-based guideline

scientific article published on 23 October 2019

Gastrostomy tube feeding in children with epidermolysis bullosa: consideration of key issues

artículo científico publicado en 2012

Generation and Clinical Application of Gene-Modified Autologous Epidermal Sheets in Netherton Syndrome: Lessons Learned from a Phase 1 Trial

scientific article published on 05 August 2019

Genitourinary tract involvement in epidermolysis bullosa.

artículo científico publicado en 2010

Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility

artículo científico publicado en 2012

HB-EGF induces COL7A1 expression in keratinocytes and fibroblasts: possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis Bullosa.

artículo científico publicado en 2011

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases

artículo científico publicado en 2011

Heterogeneous addiction to TGFβ signalling in recessive dystrophic epidermolysis bullosa associated cutaneous squamous cell carcinoma

artículo científico publicado en 2020

Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis

artículo científico publicado en 2019

Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children

artículo científico publicado en 2010

Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex

article

Ichthyosis Prematurity Syndrome: From Fetus to Adulthood

artículo científico publicado en 2016

Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.

artículo científico publicado en 2011

Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa-Associated Squamous Cell Carcinoma

artículo científico publicado en 2019

Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification

artículo científico publicado en 2014

Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis

artículo científico publicado en 2016

Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).

artículo científico publicado en 2002

Medical management of epidermolysis bullosa: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005.

artículo científico publicado en 2007

Meeting Report: The First Global Congress on Epidermolysis Bullosa, EB2020 London - Toward Treatment and Cure

scientific article published on 16 May 2020

Multidisciplinary Care of Epidermolysis Bullosa during the COVID-19 Pandemic - Consensus: Recommendations by an International Panel of Experts

artículo científico publicado en 2020

Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex

scientific article published on 19 January 2017

Neonatal aggressive systemic mastocytosis.

artículo científico publicado en 2017

Neonatal diagnosis of Kindler syndrome.

artículo científico publicado en 2005

New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter

artículo científico publicado en 2009

Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa

scientific article published on 13 December 2011

Osteopenia and osteoporosis in epidermolysis bullosa

artículo científico publicado en 2010

Outcomes and Predictors for Re-stenosis of Esophageal Stricture in Epidermolysis Bullosa: A Multicenter Cohort Study

artículo científico publicado en 2020

PLACK syndrome: the penny dropped

scientific article published on 12 September 2020

Perioperative care of patients with epidermolysis bullosa: proceedings of the 5th international symposium on epidermolysis bullosa, Santiago Chile, December 4-6, 2008.

artículo científico publicado en 2010

Phase I study protocol for ex vivo lentiviral gene therapy for the inherited skin disease, Netherton syndrome

artículo científico publicado en 2013

Phase I study protocol for ex-vivo lentiviral gene therapy for the inherited skin disease, Netherton Syndrome

artículo científico publicado en 2013

Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa

artículo científico publicado en 2019

Potential of Systemic Allogeneic Mesenchymal Stromal Cell Therapy for Children with Recessive Dystrophic Epidermolysis Bullosa

artículo científico publicado en 2015

Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa.

artículo científico publicado en 2008

Preclinical comparison of proteasome and ubiquitin E1 enzyme inhibitors in cutaneous squamous cell carcinoma: the identification of mechanisms of differential sensitivity.

artículo científico publicado en 2018

Prevalence, pathophysiology and management of itch in epidermolysis bullosa

artículo científico publicado en 2020

Progress in epidermolysis bullosa: summary of a workshop in CILAD-2010*.

artículo científico publicado en 2012

Pseudoporphyria induced by ultraviolet radiation

artículo científico publicado en 2019

Recalcitrant generalized eruption and low alkaline phosphatase: think zinc ⬇️

artículo científico publicado el 1 de marzo de 2011

Revertant mosaicism in recessive dystrophic epidermolysis bullosa

artículo científico publicado en 2010

Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa

scientific article published on 06 June 2019

Serum levels of high mobility group box 1 correlate with disease severity in recessive dystrophic epidermolysis bullosa

artículo científico publicado en 2013

Surgical management of epidermolysis bullosa: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005.

artículo científico publicado en 2007

The IVth International Symposium on Epidermolysis Bullosa, Santiago, Chile, 27-29 September 2007.

artículo científico publicado en 2008

The adverse effect profile of Acitretin in a paediatric dermatology population - longitudinal cohort study and recommendations for monitoring

scientific article published on 01 April 2020

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

artículo científico publicado en 2008

The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.

artículo científico publicado en 2011

The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen

artículo científico publicado en 2010

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

artículo científico publicado en 2013

The natural history of laryngo‐onycho‐cutaneous syndrome: A case series of six pediatric patients and literature review

artículo científico publicado en 2021

The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex

artículo científico publicado en 2015

The psychological functioning of children with epidermolysis bullosa and its relationship with specific aspects of disease

scientific article published on 25 November 2019

Use of an Investigator's Global Assessment Scale to Evaluate Disease Severity in Patients swith Epidermolysis Bullosa Simplex

artículo científico publicado en 2018

Wound healing in epidermolysis bullosa

artículo científico publicado en 2017

Lista de obras de

A Heterozygous Frameshift Mutation in the V1 Domain of Keratin 5 in a Family with Dowling–Degos Disease

A Retrospective Review of Clinical Problems and Interventions in Patients Attending Epidermolysis Bullosa Podiatry Clinics Highlighting the Demand and Need for Specialized Services

A consensus approach to wound care in epidermolysis bullosa

A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.

A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita

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

An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome

An unusual case of epidermolysis bullosa complicated by persistent oligoarticular juvenile idiopathic arthritis; lessons to be learned

Autosomal Recessive Epidermolysis Bullosa Simplex Due to Loss of BPAG1-e Expression

Basic science of epidermolysis bullosa and diagnostic and molecular characterization: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005

Beta blockers for infantile haemangiomas: where should we go from here?

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa

Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait

Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities

Congenital anetoderma in a preterm infant

Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.

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

Considerations in surgical management of a Buschke-Lowenstein tumor in Netherton syndrome: A case report

Costs of UK community care for individuals with recessive dystrophic epidermolysis bullosa: Findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study

Dermatofibrosarcoma protuberans (DFSP) in children: A combined multidisciplinary approach

Dilated cardiomyopathy in epidermolysis bullosa: a retrospective, multicenter study.

Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa ⬇️

EBGene trial: patient preselection outcomes for the European GENEGRAFT ex vivo phase I/II gene therapy trial for recessive dystrophic epidermolysis bullosa

Ectodermal dysplasia-skin fragility syndrome.

Ectodermal dysplasia-skin fragility syndrome: two new cases and review of this desmosomal genodermatosis

Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases

Epidermolysis Bullosa with Pyloric Atresia and Significant Urologic Involvement

Epidermolysis bullosa

Epidermolysis bullosa

Epidermolysis bullosa and chronic wounds: a model for wound bed preparation of fragile skin

Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR

Extracellular vesicles as biomarkers for the detection of a tumor marker gene in epidermolysis bullosa-associated squamous cell carcinoma.

Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues

Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part II. Other organs

Foot care in epidermolysis bullosa: evidence-based guideline

Gastrostomy tube feeding in children with epidermolysis bullosa: consideration of key issues

Generation and Clinical Application of Gene-Modified Autologous Epidermal Sheets in Netherton Syndrome: Lessons Learned from a Phase 1 Trial

Genitourinary tract involvement in epidermolysis bullosa.

Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility

HB-EGF induces COL7A1 expression in keratinocytes and fibroblasts: possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis Bullosa.

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases

Heterogeneous addiction to TGFβ signalling in recessive dystrophic epidermolysis bullosa associated cutaneous squamous cell carcinoma

Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis

Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children

Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex

Ichthyosis Prematurity Syndrome: From Fetus to Adulthood

Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.

Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa-Associated Squamous Cell Carcinoma

Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification

Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis

Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).

Medical management of epidermolysis bullosa: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005.

Meeting Report: The First Global Congress on Epidermolysis Bullosa, EB2020 London - Toward Treatment and Cure

Multidisciplinary Care of Epidermolysis Bullosa during the COVID-19 Pandemic - Consensus: Recommendations by an International Panel of Experts

Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex

Neonatal aggressive systemic mastocytosis.

Neonatal diagnosis of Kindler syndrome.

New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter

Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa

Osteopenia and osteoporosis in epidermolysis bullosa

Outcomes and Predictors for Re-stenosis of Esophageal Stricture in Epidermolysis Bullosa: A Multicenter Cohort Study

PLACK syndrome: the penny dropped

Perioperative care of patients with epidermolysis bullosa: proceedings of the 5th international symposium on epidermolysis bullosa, Santiago Chile, December 4-6, 2008.

Phase I study protocol for ex vivo lentiviral gene therapy for the inherited skin disease, Netherton syndrome

Phase I study protocol for ex-vivo lentiviral gene therapy for the inherited skin disease, Netherton Syndrome

Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa

Potential of Systemic Allogeneic Mesenchymal Stromal Cell Therapy for Children with Recessive Dystrophic Epidermolysis Bullosa

Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa.

Preclinical comparison of proteasome and ubiquitin E1 enzyme inhibitors in cutaneous squamous cell carcinoma: the identification of mechanisms of differential sensitivity.

Prevalence, pathophysiology and management of itch in epidermolysis bullosa

Progress in epidermolysis bullosa: summary of a workshop in CILAD-2010*.

Pseudoporphyria induced by ultraviolet radiation

Recalcitrant generalized eruption and low alkaline phosphatase: think zinc ⬇️

Revertant mosaicism in recessive dystrophic epidermolysis bullosa

Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa

Serum levels of high mobility group box 1 correlate with disease severity in recessive dystrophic epidermolysis bullosa

Surgical management of epidermolysis bullosa: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005.

The IVth International Symposium on Epidermolysis Bullosa, Santiago, Chile, 27-29 September 2007.