(Q42047155)

English

Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation

scientific article

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Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation (English)

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

hereditary hemorrhagic telangiectasia

0 references

author name string

Jamie McDonald

1

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Friederike Gedge

2

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Allene Burdette

3

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

James Carlisle

4

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Changkuoth Jock Bukjiok

5

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Michelle Fox

6

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Pinar Bayrak-Toydemir

7

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

publication date

18 September 2009

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

The Journal of Molecular Diagnostics

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

11

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

6

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

569-575

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765756

5 June 2018

Predicting the effects of amino acid substitutions on protein function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765756

5 June 2018

Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765756

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765756

5 June 2018

Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765756

5 June 2018

Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765756

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765756

5 June 2018

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765756

5 June 2018

Human non-synonymous SNPs: server and survey

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765756

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765756

5 June 2018

Mutational analysis of activin/transforming growth factor-beta type I and type II receptor kinases in human pituitary tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765756

5 June 2018

The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765756

5 June 2018

Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765756

5 June 2018

Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765756

17 August 2018

A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765756

17 August 2018

Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765756

17 August 2018

Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765756

17 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765756

17 August 2018

High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765756

17 August 2018

Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765756

17 August 2018

Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765756

17 August 2018

A newborn with hereditary haemorrhagic telangiectasia and an unusually severe phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/19767588

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The natural history of epistaxis in hereditary hemorrhagic telangiectasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/19767588

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations

1 reference

https://pubmed.ncbi.nlm.nih.gov/19767588

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

https://pubmed.ncbi.nlm.nih.gov/19767588

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.2353/JMOLDX.2009.080148

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

ResearchGate publication ID

0 references

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