ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia

Somatic mosaicism: implications for disease and transmission genetics

(2015) Ian M. Campbell et al.   TRENDS IN GENETICS

National mutation study among Danish patients with hereditary haemorrhagic telangiectasia

(2013) P.M. Tørring et al.   CLINICAL GENETICS

ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension

(2011) M Eyries et al.   CLINICAL GENETICS

Cerebral abscesses in hereditary haemorrhagic telangiectasia: A clinical and microbiological evaluation

(2011) Stéphane Mathis et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

Identification of clinically relevant mosaicism in type I hereditary haemorrhagic telangiectasia

(2011) N. P. Lee et al.   JOURNAL OF MEDICAL GENETICS

Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients

(2011) D. H. Best et al.   JOURNAL OF MEDICAL GENETICS

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

(2010) J McDonald et al.   CLINICAL GENETICS

Hereditary hemorrhagic telangiectasia: from molecular biology to patient care

(2010) S. DUPUIS-GIROD et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia

(2009) M. E. Faughnan et al.   JOURNAL OF MEDICAL GENETICS