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OSLER-RENDU-WEBER SYNDROME 2
Known as:
HHT2
, Telangiectasia, hereditary hemorrhagic, type 2
National Institutes of Health
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Related topics
Related topics
21 relations
ACVRL1 gene
ACVRL1 wt Allele
Anemia
Angiodysplasia
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Broader (1)
Hereditary hemorrhagic telangiectasia
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Hereditary hemorrhagic telangiectasia in Japanese patients
M. Komiyama
,
T. Ishiguro
,
O. Yamada
,
H. Morisaki
,
T. Morisaki
Journal of Human Genetics
2014
Corpus ID: 23197293
To describe clinical presentations of hereditary hemorrhagic telangiectasia (HHT) patients in Japan. There were 80 patients (40…
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2014
2014
ACVRL1 (activin A receptor type II-like 1)
F. Ornati
,
L. Vecchia
,
C. Scotti
,
Sara Plumitallo
,
C. Olivieri
2014
Corpus ID: 52239614
Activin A receptor, type II-like kinase 1 (ALK1 is a serine-threonine kinase) predominantly expressed on endothelial cells…
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2012
2012
Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations
Alistair N. Hume
,
A. John
,
+4 authors
B. Ali
Molecular and Cellular Biochemistry
2012
Corpus ID: 2274511
Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disease characterised by vascular dysplasia and increased…
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Highly Cited
2006
Highly Cited
2006
Genotype–phenotype correlation in hereditary hemorrhagic telangiectasia: Mutations and manifestations *
P. Bayrak-Toydemir
,
J. McDonald
,
+7 authors
R. Mao
American journal of medical genetics. Part A
2006
Corpus ID: 27209046
Hereditary hemorrhagic telangiectasia (HHT) is a genetically heterogeneous vascular dysplasia with multiple telangiectases and…
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2006
2006
Controversial molecular classification of human cerebrovascular malformations.
Sonja Stahl
,
U. Felbor
Stroke
2006
Corpus ID: 46370851
To the Editor: The identification of underlying causal genes in familial forms of cerebrovascular malformations allows the…
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Highly Cited
2003
Highly Cited
2003
Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations
J. Berg
,
M. Porteous
,
+7 authors
A. Guttmacher
Journal of medical genetics
2003
Corpus ID: 12985413
Background: Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia characterised by…
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Highly Cited
1996
Highly Cited
1996
Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2.
M. Piantanida
,
E. Buscarini
,
+4 authors
C. Danesino
Journal of medical genetics
1996
Corpus ID: 33840643
Hereditary haemorrhagic telangiectasia (HHT) is a genetically heterogeneous dominant disorder. Two disease loci have been mapped…
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