Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis

Characterization of five novel large deletions causing hereditary haemorrhagic telangiectasia

(2009) M Shoukier et al.   CLINICAL GENETICS

Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia

(2009) K Brakensiek et al.   CLINICAL GENETICS

Hereditary haemorrhagic telangiectasia: a clinical and scientific review

(2009) Fatima S Govani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Multiple Sequence Variants in Hereditary Hemorrhagic Telangiectasia Cases

(2009) Jamie McDonald et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

BMPR2mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia

(2008) Christina M. Rigelsky et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences

(2008) Rodica Gincul et al.   HEPATOLOGY