Hereditary haemorrhagic telangiectasia
R Hermann, CL Shovlin, RS Kasthuri, M Serra… - Nature reviews Disease …, 2025 - nature.com
Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited as an
autosomal dominant trait and caused by loss-of-function pathogenic variants in genes …
autosomal dominant trait and caused by loss-of-function pathogenic variants in genes …
Pomalidomide for epistaxis in hereditary hemorrhagic telangiectasia
H Al-Samkari, RS Kasthuri, VN Iyer… - … England Journal of …, 2024 - Mass Medical Soc
Background Hereditary hemorrhagic telangiectasia (HHT) is characterized by extensive
telangiectasias and arteriovenous malformations. The primary clinical manifestation is …
telangiectasias and arteriovenous malformations. The primary clinical manifestation is …
Executive summary of the 14th HHT international scientific conference
R Ola, J Hessels, A Hammill, C Friday, M Clancy… - Angiogenesis, 2023 - Springer
Abstract Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant vascular
disorder characterized by small, dilated clustered vessels (telangiectasias) and by larger …
disorder characterized by small, dilated clustered vessels (telangiectasias) and by larger …
Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous …
S Balachandar, TJ Graves, A Shimonty… - American Journal of …, 2022 - Wiley Online Library
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant multisystemic
vascular dysplasia, characterized by arteriovenous malformations (AVMs), mucocutaneous …
vascular dysplasia, characterized by arteriovenous malformations (AVMs), mucocutaneous …
Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants> 5 kb from coding DNA
S Xiao, Z Kai, D Murphy, D Li, D Patel… - The American Journal of …, 2023 - cell.com
Despite whole-genome sequencing (WGS), many cases of single-gene disorders remain
unsolved, impeding diagnosis and preventative care for people whose disease-causing …
unsolved, impeding diagnosis and preventative care for people whose disease-causing …
uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia
O Soukarieh, E Tillet, C Proust, C Dupont… - npj Genomic …, 2023 - nature.com
Abstract Hereditary Hemorrhagic Telangiectasia (HHT) is a rare, autosomal dominant,
vascular disorder. About 80% of cases are caused by pathogenic variants in ACVRL1 (also …
vascular disorder. About 80% of cases are caused by pathogenic variants in ACVRL1 (also …
Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of 'gene-negative'individuals recruited to the 100 …
CL Shovlin, FI Almaghlouth, A Alsafi, N Coote… - Journal of Medical …, 2024 - jmg.bmj.com
034 128–39 150 280). To visualise, HHT panel genes and the linkage intervals were plotted
on an ideogram of GRCh38 17 as described previously. 16 Figure 1 indicates the genomic …
on an ideogram of GRCh38 17 as described previously. 16 Figure 1 indicates the genomic …
ANG2 blockade diminishes proangiogenic cerebrovascular defects associated with models of hereditary hemorrhagic telangiectasia
X Zhou, JC Pucel, A Nomura-Kitabayashi… - … and Vascular Biology, 2023 - Am Heart Assoc
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder
characterized by arteriovenous malformations and blood vessel enlargements. However …
characterized by arteriovenous malformations and blood vessel enlargements. However …
Prevalence and risk factors for bleeding in hereditary hemorrhagic telangiectasia: a National Inpatient Sample study
J Zarka, K Jeong, JG Yabes, MV Ragni - Blood Advances, 2023 - ashpublications.org
Hereditary hemorrhagic telangiectasia (HHT) is a common bleeding disorder, but little is
known regarding prevalence and risk factors for bleeding. Adult discharges with HHT and …
known regarding prevalence and risk factors for bleeding. Adult discharges with HHT and …
[HTML][HTML] Pathogenic variant frequencies in hereditary haemorrhagic telangiectasia support clinical evidence of protection from myocardial infarction
K Jain, SC McCarley, G Mukhtar, A Ferlin… - Journal of Clinical …, 2023 - mdpi.com
Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited as an
autosomal dominant trait, due to a single heterozygous loss-of-function variant, usually in …
autosomal dominant trait, due to a single heterozygous loss-of-function variant, usually in …