Alexandra V. Charlesworth

Nice, France

Last Updated: 09/26/2026

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Found 13 publications

Genotypic and Phenotypic Analysis of 34 Cases of Inherited Junctional Epidermolysis Bullosa caused by COL17A1 Mutations.

Genotypic and Phenotypic Analysis of 34 Cases of Inherited Junctional Epidermolysis Bullosa caused by COL17A1 Mutations.

Journal: The British journal of dermatology

Published: September 10, 2020

Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa.

Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa.

Journal: The British journal of dermatology

Published: May 09, 2019

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

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

Journal: Pediatric dermatology

Published: March 26, 2018

PLACK syndrome resulting from a new homozygous insertion mutation in CAST.

PLACK syndrome resulting from a new homozygous insertion mutation in CAST.

Journal: Journal of dermatological science

Published: February 14, 2017

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

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

Journal: The British journal of dermatology

Published: March 21, 2016

Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia.

Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia.

Journal: Experimental dermatology

Published: December 19, 2015

Genotypic and phenotypic analysis of 34 cases of inherited junctional epidermolysis bullosa caused by COL17A1 mutations.

Genotypic and phenotypic analysis of 34 cases of inherited junctional epidermolysis bullosa caused by COL17A1 mutations.

Journal: The British journal of dermatology

Published: October 06, 2015

Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases.

Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases.

Journal: Orphanet journal of rare diseases

Published: September 10, 2015

Oral erythromycin therapy in epidermolysis bullosa simplex generalized severe.

Oral erythromycin therapy in epidermolysis bullosa simplex generalized severe.

Journal: The British journal of dermatology

Published: January 21, 2015

Recessive epidermolysis bullosa due to composite heterozygote mutations in the COL7A1 gene

Recessive epidermolysis bullosa due to composite heterozygote mutations in the COL7A1 gene

Journal: Annales de dermatologie et de venereologie

Published: August 01, 2014

Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study.

Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study.

Journal: The British journal of dermatology

Published: November 14, 2013

Late-onset skin fragility in childhood: a case of junctional epidermolysis bullosa of late onset caused by a missense mutation in COL17A1.

Late-onset skin fragility in childhood: a case of junctional epidermolysis bullosa of late onset caused by a missense mutation in COL17A1.

Journal: The British journal of dermatology

Published: April 05, 2013

Showing 1-12 of 13

Last Updated: 09/26/2026