(Q36281641)

13 August 2017

A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study (English)

1 reference

13 August 2017

1 reference

11

Giancarlo Logroscino

1 reference

13 August 2017

Nicoletta Resta

10

1 reference

ORCID Public Data File 2021

author name string

Paola Pierucci

1

1 reference

13 August 2017

Gennaro M Lenato

2

1 reference

13 August 2017

Patrizia Suppressa

3

1 reference

13 August 2017

Patrizia Lastella

4

1 reference

13 August 2017

Vincenzo Triggiani

5

1 reference

13 August 2017

Raffaella Valerio

6

1 reference

13 August 2017

Mario Comelli

7

1 reference

13 August 2017

Daniela Salvante

8

1 reference

13 August 2017

Alessandro Stella

9

1 reference

13 August 2017

Francesco Resta

12

1 reference

13 August 2017

Carlo Sabbà

13

1 reference

13 August 2017

language of work or name

1 reference

7 June 2012

1 reference

Orphanet Journal of Rare Diseases

13 August 2017

1 reference

13 August 2017

7

1 reference

13 August 2017

33

1 reference

Hereditary hemorrhagic telangiectasia: children need screening too.

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458963

Why is genetic screening for autosomal dominant disorders underused in families? The case of hereditary hemorrhagic telangiectasia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458963

Hereditary haemorrhagic telangiectasia: Pathophysiology, diagnosis and treatment

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458963

Cushing's syndrome: why is diagnosis so difficult?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458963

International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458963

The need for an interdisciplinary network of investigations on HHT.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458963

A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458963

Manifestations of hereditary hemorrhagic telangiectasia in children and adolescents

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458963

A rare and misdiagnosed bleeding disorder: hereditary hemorrhagic telangiectasia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458963

Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458963

Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458963

“Osler’s phenomenon”: misdiagnosing Cushing’s syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458963

Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458963

Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458963

Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458963

Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan

30 September 2017

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-33

Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-33

Reduced plasma levels of Ang-2 and sEng as novel biomarkers in hereditary hemorrhagic telangiectasia (HHT).

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458963

An update on autoinflammatory diseases. New concepts for new and old diseases

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458963

Racing against the clock: recognizing, differentiating, diagnosing, and referring the amyotrophic lateral sclerosis patient

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458963

Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458963

DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458963

Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458963

Patients with hereditary hemorrhagic telangiectasia have increased plasma levels of vascular endothelial growth factor and transforming growth factor-beta1 as well as high ALK1 tissue expression.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458963

Vascular Endothelial Growth Factor Serum Levels Are Elevated in Patients with Hereditary Hemorrhagic Telangiectasia

22 September 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-33

Effects of VEGF on Phenotypic Severity in Children With Hereditary Hemorrhagic Telangiectasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-33

Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin

21 January 2018

1 reference

12 December 2020

Mutation analysis in Spanish patients with hereditary hemorrhagic telangiectasia: deficient endoglin up-regulation in activated monocytes

1 reference

12 December 2020

Hereditary hemorrhagic telangiectasia

1 reference

12 December 2020

Clinical characteristics of subjects with symptoms of alpha1-antitrypsin deficiency older than 60 years

1 reference

12 December 2020

Relapsing polychondritis: case report and literature review

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-7-33

1 reference

Dimensions Publication ID

13 August 2017

0 references

1 reference

13 August 2017

PubMed publication ID

22676497

1 reference