Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type (Q37789608)

23 August 2017

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type (English)

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23 August 2017

Ehlers-Danlos syndrome

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3

Anne De Paepe

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Fransiska Malfait

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1

object named as

Fransiska Malfait

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author name string

Richard J Wenstrup

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2

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PubMed ID

20847697

23 August 2017

language of work or name

English

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publication date

1 October 2010

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23 August 2017

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23 August 2017

12

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23 August 2017

10

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23 August 2017

597-605

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https://scigraph.springernature.com/pub.10.1097/gim.0b013e3181eed412

23 August 2017

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Oral health in prevalent types of Ehlers-Danlos syndromes.

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Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders

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Bleeding in the heritable connective tissue disorders: mechanisms, diagnosis and treatment

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Connective tissue disorders with spontaneous spinal cerebrospinal fluid leaks and intracranial hypotension: a prospective study

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21 January 2018

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21 January 2018

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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

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A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency

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Analysis of obstetric complications and uterine connective tissue in tenascin-X-deficient humans and mice

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Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type

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Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene

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Domains and maturation processes that regulate the activity of ADAMTS-2, a metalloproteinase cleaving the aminopropeptide of fibrillar procollagens types I-III and V

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Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

21 January 2018

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Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.

21 January 2018

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Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen

21 January 2018

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Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood

21 January 2018

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Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.

21 January 2018

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A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

21 January 2018

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Subependymal periventricular heterotopias in a patient with ehlers-danlos syndrome: a new case.

21 January 2018

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Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

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Periventricular heterotopia: new insights into Ehlers-Danlos syndrome

21 January 2018

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Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation

21 January 2018

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Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.

21 January 2018

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Ehlers-Danlos syndrome with subependymal periventricular heterotopias.

21 January 2018

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Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13

21 January 2018

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RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome

21 January 2018

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The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2).

21 January 2018

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Aneurysm syndromes caused by mutations in the TGF-beta receptor

21 January 2018

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Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome

21 January 2018

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Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

21 January 2018

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Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

21 January 2018

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Mutations in PYCR1 cause cutis laxa with progeroid features

21 January 2018

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Desmopressin responsiveness in children with Ehlers-Danlos syndrome associated bleeding symptoms.

21 January 2018

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The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.

21 January 2018

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Type V collagen: heterotypic type I/V collagen interactions in the regulation of fibril assembly

21 January 2018

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Type V collagen controls the initiation of collagen fibril assembly

21 January 2018

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Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages

21 January 2018

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COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS

21 January 2018

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Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).

21 January 2018

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Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS).

21 January 2018

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An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome

21 January 2018

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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

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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

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Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?

21 January 2018

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COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome

21 January 2018

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

21 January 2018

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10.1097/GIM.0B013E3181EED412

21 January 2018

Identifiers

DOI

1 reference

PubMed ID

20847697

Dimensions Publication ID

23 August 2017

0 references

1 reference

PubMed ID

20847697