(Q33610983)

28 July 2017

1 reference

title

The molecular genetics of the Ehlers-Danlos syndrome (English)

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28 July 2017

main subject

Ehlers-Danlos syndrome

0 references

author name string

Burrows NP

series ordinal

1

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28 July 2017

language of work or name

1 reference

1 March 1999

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Clinical and Experimental Dermatology

28 July 2017

published in

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28 July 2017

volume

24

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28 July 2017

issue

2

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28 July 2017

page(s)

99-106

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Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

28 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.1999.00427.X

Ehlers-Danlos syndrome has varied molecular mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.1999.00427.X

A Heritable Disorder of Connective Tissue

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.1999.00427.X

A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.1999.00427.X

Patients with Ehlers-Danlos syndrome type IV lack type III collagen

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.1999.00427.X

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.1999.00427.X

Ehlers-Danlos syndrome type IV: a subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagen

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.1999.00427.X

Dermatosparaxis in children. A case report and review of the newly recognized phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.1999.00427.X

A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.1999.00427.X

Exclusion of the alpha 1(II) collagen structural gene as the mutant locus in type II Ehlers-Danlos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.1999.00427.X

Ehlers-Danlos syndrome type I: a clinical and ultrastructural study of a family with reduced amounts of collagen type III.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.1999.00427.X

Chromosome 6q deletions: a report of two additional cases and a review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.1999.00427.X

Fetal membrane collagens: identification of two new collagen alpha chains

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.1999.00427.X

Another look at collagen V and XI molecules.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.1999.00427.X

A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.1999.00427.X

Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.1999.00427.X

A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.1999.00427.X

Targeted disruption of decorin leads to abnormal collagen fibril morphology and skin fragility

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.1999.00427.X

Lumican regulates collagen fibril assembly: skin fragility and corneal opacity in the absence of lumican

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.1999.00427.X

Tenascin-X deficiency is associated with Ehlers-Danlos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.1999.00427.X

X-linked Recessive Inheritance in the Ehlers-Danlos Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.1999.00427.X

International nosology of heritable disorders of connective tissue, Berlin, 1986

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.1999.00427.X

Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.1999.00427.X

10.1046/J.1365-2230.1999.00427.X

21 January 2018

Identifiers

DOI

1 reference

28 July 2017

1 reference