(Q42605404)

English

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

scientific article published on 9 September 2011

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21681854%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

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

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5 February 2020

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epidermolysis bullosa

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online database

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Peter C van den Akker

1

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Europe PubMed Central

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5 February 2020

11

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5 February 2020

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5 February 2020

Morris A Swertz

14

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5 February 2020

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Marcel F Jonkman

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5 February 2020

Trebor Rengaw

3

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5 February 2020

Leena Bruckner-Tuderman

4

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5 February 2020

Cristina Has

5

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5 February 2020

Johann W Bauer

6

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5 February 2020

Alfred Klausegger

7

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5 February 2020

Giovanna Zambruno

8

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5 February 2020

Daniele Castiglia

9

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5 February 2020

Jemima E Mellerio

10

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5 February 2020

Anthonie J van Essen

12

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5 February 2020

publication date

9 September 2011

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5 February 2020

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Europe PubMed Central

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5 February 2020

32

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5 February 2020

10

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5 February 2020

1100-1107

1 reference

Europe PubMed Central

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5 February 2020

Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

21 January 2018

Hereditary skin diseases of anchoring fibrils

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

21 January 2018

Immunohistochemical and mutation analyses demonstrate that procollagen VII is processed to collagen VII through removal of the NC-2 domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

21 January 2018

Premature termination codon mutations in the type VII collagen gene in recessive dystrophic epidermolysis bullosa result in nonsense-mediated mRNA decay and absence of functional protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

21 January 2018

Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

21 January 2018

High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

21 January 2018

Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

21 January 2018

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

21 January 2018

Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

21 January 2018

Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

21 January 2018

Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

21 January 2018

Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

21 January 2018

Mutational survey of recessive dystrophic epidermolysis bullosa in Tunisian families unveils a spectrum of private, ethnic specific and world wide recurrent mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

21 January 2018

Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

21 January 2018

The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

21 January 2018

Beyond standardization: dynamic software infrastructures for systems biology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

21 January 2018

XGAP: a uniform and extensible data model and software platform for genotype and phenotype experiments

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

21 January 2018

Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: Expansion of the mutation database and unusual phenotype–genotype correlations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

21 January 2018

Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

21 January 2018

Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

21 January 2018

Inversa Dystrophic Epidermolysis Bullosa Is Caused by Missense Mutations at Specific Positions of the Collagenic Domain of Collagen Type VII

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

21 January 2018

Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

7 January 2021

based on heuristic

inferred from DOI database lookup

Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

7 January 2021

based on heuristic

inferred from DOI database lookup

The prevalence of epidermolysis bullosa in Scotland

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

7 January 2021

based on heuristic

inferred from DOI database lookup

Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

7 January 2021

based on heuristic

inferred from DOI database lookup

Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

7 January 2021

based on heuristic

inferred from DOI database lookup

A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

7 January 2021

based on heuristic

inferred from DOI database lookup

A recurrent COL7A1 mutation, R2814X, in British patients with recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

7 January 2021

based on heuristic

inferred from DOI database lookup

The molecular basis of dystrophic epidermolysis bullosa in Mexico

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

7 January 2021

based on heuristic

inferred from DOI database lookup

Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: positional effects of premature termination codon mutations on clinical severity. Japanese Collaborative Study Group on Epidermolysis Bullosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

7 January 2021

based on heuristic

inferred from DOI database lookup

A frequent functional SNP in theMMP1promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21551

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.21551

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21681854%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

release_b2d5nmy7jvdtbjruwltd2ntc64

1 reference

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24 November 2022

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1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21681854%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

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