Genotype–phenotype correlation in hereditary hemorrhagic telangiectasia: Mutations and manifestations-Reference-Cited by-同舟云学术

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Genotype–phenotype correlation in hereditary hemorrhagic telangiectasia: Mutations and manifestations

Published:2006 Issue:5 Volume:140A Page:463-470
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Bayrak-Toydemir Pınar,McDonald Jamie,Markewitz Boaz,Lewin Susan,Miller Franklin,Chou Lan-Szu,Gedge Friederike,Tang Wei,Coon Hillary,Mao Rong

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference29 articles.

1. Disease-associated mutations in conserved residues of ALK-1 kinase domain

2. Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?

3. The Activin Receptor-Like Kinase 1 Gene: Genomic Structure and Mutations in Hereditary Hemorrhagic Telangiectasia Type 2

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

5. Endoglin Expression Is Reduced in Normal Vessels but Still Detectable in Arteriovenous Malformations of Patients with Hereditary Hemorrhagic Telangiectasia Type 1

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1. Hereditary hemorrhagic telangiectasia – pediatric review;Current Opinion in Pediatrics;2024-09-10

2. Recurrence of Pulmonary Arteriovenous Malformation after Embolization in Patients with Pulmonary Hypertension;Journal of Vascular and Interventional Radiology;2024-08

3. Hepatic manifestations of hereditary haemorrhagic telangiectasia;Liver International;2024-06-07

4. Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1;Human Mutation;2024-05-18

5. Pulmonary Angiography: Arteriovenous Malformation and Pseudoaneurysm;IR Playbook;2024

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