(Q36535540)

14 August 2017

0 references

Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? (English)

1 reference

14 August 2017

Ehlers-Danlos syndrome

0 references

1

Daniela Melis

0 references

Gerarda Cappuccio

object named as

Gerarda Cappuccio

2

1 reference

ORCID Public Data File 2021

author name string

Daniela Melis

1

1 reference

14 August 2017

Virginia Maria Ginocchio

3

1 reference

14 August 2017

Giorgia Minopoli

4

1 reference

14 August 2017

Maurizia Valli

5

1 reference

14 August 2017

Massimiliano Corradi

6

1 reference

14 August 2017

Generoso Andria

7

1 reference

14 August 2017

16 November 2012

1 reference

Italian Journal of Paediatrics

14 August 2017

1 reference

14 August 2017

38

1 reference

14 August 2017

65

1 reference

The Ehlers-Danlos syndrome, a disorder with many faces

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545852

ColVa1 and ColXIa1 are required for myocardial morphogenesis and heart valve development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545852

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.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545852

Ehlers-Danlos syndrome type VII: clinical features and molecular defects

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545852

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545852

Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545852

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.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545852

Successful mitral valve replacement in a patient with Ehlers-Danlos syndrome type VI

21 September 2018

1 reference

12 December 2020

Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndromes

1 reference

12 December 2020

[Vascular and/or cardiac manifestations of type IV Ehlers-Danlos syndrome. 9 cases]

1 reference

12 December 2020

Multiple floppy valves with all cardiac valves prolapsing: Clinical course and treatment

1 reference

12 December 2020

Identifiers

DOI

10.1186/1824-7288-38-65

1 reference

Dimensions Publication ID

14 August 2017

0 references

1 reference

14 August 2017

PubMed publication ID

23158907

1 reference