(Q46583211)

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

scientific article published on 8 April 2008

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Europe PubMed Central

PubMed publication ID

23 December 2017

http://europepmc.org/abstract/MED/18495117

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

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Europe PubMed Central

PubMed publication ID

23 December 2017

http://europepmc.org/abstract/MED/18495117

hereditary hemorrhagic telangiectasia

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7

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David Goldgar

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23 December 2017

http://europepmc.org/abstract/MED/18495117

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Pinar Bayrak-Toydemir

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23 December 2017

http://europepmc.org/abstract/MED/18495117

Jamie McDonald

2

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23 December 2017

http://europepmc.org/abstract/MED/18495117

Rong Mao

3

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23 December 2017

http://europepmc.org/abstract/MED/18495117

Amit Phansalkar

4

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23 December 2017

http://europepmc.org/abstract/MED/18495117

Friederike Gedge

5

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23 December 2017

http://europepmc.org/abstract/MED/18495117

Jorge Robles

6

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23 December 2017

http://europepmc.org/abstract/MED/18495117

Elaine Lyon

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http://europepmc.org/abstract/MED/18495117

publication date

8 April 2008

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23 December 2017

http://europepmc.org/abstract/MED/18495117

Experimental and Molecular Pathology

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23 December 2017

http://europepmc.org/abstract/MED/18495117

85

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23 December 2017

http://europepmc.org/abstract/MED/18495117

1

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23 December 2017

http://europepmc.org/abstract/MED/18495117

45-49

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23 December 2017

http://europepmc.org/abstract/MED/18495117

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXMP.2008.03.006

7 January 2021

Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXMP.2008.03.006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXMP.2008.03.006

7 January 2021

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXMP.2008.03.006

7 January 2021

Strategies for multilocus linkage analysis in humans

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXMP.2008.03.006

7 January 2021

Construction of human linkage maps: likelihood calculations for multilocus linkage analysis.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXMP.2008.03.006

7 January 2021

SIFT: Predicting amino acid changes that affect protein function

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXMP.2008.03.006

7 January 2021

Hereditary haemorrhagic telangiectasia: a clinical analysis

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXMP.2008.03.006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXMP.2008.03.006

7 January 2021

Human non-synonymous SNPs: server and survey

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXMP.2008.03.006

7 January 2021

Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXMP.2008.03.006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXMP.2008.03.006

7 January 2021

Towards a structural basis of human non-synonymous single nucleotide polymorphisms

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXMP.2008.03.006

7 January 2021

Prediction of deleterious human alleles

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXMP.2008.03.006

7 January 2021

A full-likelihood method for the evaluation of causality of sequence variants from family data

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXMP.2008.03.006

7 January 2021

Identifiers

10.1016/J.YEXMP.2008.03.006

1 reference

Europe PubMed Central

PubMed publication ID

23 December 2017

http://europepmc.org/abstract/MED/18495117

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

23 December 2017

http://europepmc.org/abstract/MED/18495117

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