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1 s the major gene when PAH is associated with hereditary hemorrhagic telangiectasia.
2 sistence after embolization in patients with hereditary hemorrhagic telangiectasia.
3 n mice and its mutation in the human disease hereditary hemorrhagic telangiectasia.
4 nd endoglin (ENG), which are associated with hereditary hemorrhagic telangiectasia.
5 understanding of the human vascular disease, hereditary hemorrhagic telangiectasia.
6 use the autosomal dominant bleeding disorder hereditary hemorrhagic telangiectasia.
7 n mice and its mutation in the human disease hereditary hemorrhagic telangiectasia.
8 s malformations (AVMs) are characteristic of hereditary hemorrhagic telangiectasia.
9 vent vascular malformations in patients with hereditary hemorrhagic telangiectasia.
10 ression and signaling are elevated in type 2 hereditary hemorrhagic telangiectasia.
11 to fast-flow arteriovenous malformations in hereditary hemorrhagic telangiectasias.
12 nd ALK1 lead to the human syndromes known as hereditary hemorrhagic telangiectasia 1 and 2, respectiv
13 opment and is involved in the development of hereditary hemorrhagic telangiectasia 2 (HHT2), a domina
14 liminary results of studies in patients with hereditary hemorrhagic telangiectasia (a genetic disorde
15 tion mutations in the ALK1 gene cause type 2 hereditary hemorrhagic telangiectasia, a devastating dis
16 ANGPT2 function in an in vivo Smad4 model of hereditary hemorrhagic telangiectasia alleviated these v
17 ve kindreds plus one individual patient with hereditary hemorrhagic telangiectasia and identified 10
18 ated with the BMP/TGF-beta pathways, such as hereditary hemorrhagic telangiectasia and juvenile polyp
19 contribute to the contrasting pathologies of hereditary hemorrhagic telangiectasia and pulmonary arte
21 hic, and imaging studies in 19 patients with hereditary hemorrhagic telangiectasia and symptomatic li
23 ng the vascular dilatation characteristic of hereditary hemorrhagic telangiectasia and the occlusion
24 n receptor-like kinase 1 (ALK1) cause type 2 hereditary hemorrhagic telangiectasia, and Alk1 knockout
25 The reasons for the variable phenotype in hereditary hemorrhagic telangiectasia are not understood
26 TGFbeta downstream effectors responsible for hereditary hemorrhagic telangiectasia-associated AVM for
27 Pulmonary hypertension in association with hereditary hemorrhagic telangiectasia can involve mutati
28 type III receptor ENG (both associated with hereditary hemorrhagic telangiectasia), caveolin-1 (CAV1
29 ENG lead to the inherited vascular disorder hereditary hemorrhagic telangiectasia characterized by l
31 store normal cardiac output in patients with hereditary hemorrhagic telangiectasia (HHT) and cardiac
32 d by deregulation of TGF-beta/BMP signaling: hereditary hemorrhagic telangiectasia (HHT) and cerebral
34 Pulmonary arterial hypertension (PAH) and hereditary hemorrhagic telangiectasia (HHT) are two dist
36 Liver arteriovenous malformations (AVM) in hereditary hemorrhagic telangiectasia (HHT) can necessit
52 Applied to WGS data from solved and unsolved hereditary hemorrhagic telangiectasia (HHT) recruits to
53 Purpose To determine whether patients with hereditary hemorrhagic telangiectasia (HHT) who smoke to
54 has been proposed as a curative treatment in hereditary hemorrhagic telangiectasia (HHT) with severe
55 intestine, and brain, are characteristic of hereditary hemorrhagic telangiectasia (HHT), a disease c
58 two distinct genes, endoglin or ALK-1, cause hereditary hemorrhagic telangiectasia (HHT), an autosoma
59 netic and multifactorial diseases, including hereditary hemorrhagic telangiectasia (HHT), cancer, ath
60 ector, SMAD family member 4 (SMAD4) leads to hereditary hemorrhagic telangiectasia (HHT), characteriz
61 A young female genetically diagnosed with hereditary hemorrhagic telangiectasia (HHT), is regularl
66 better understand phenotypic variability in hereditary hemorrhagic telangiectasia (HHT), we subcateg
67 g in human vascular disease, we investigated hereditary hemorrhagic telangiectasia (HHT), which is ca
68 ptoms of a genetic vascular dysplasia termed hereditary hemorrhagic telangiectasia (HHT), which is ch
76 y affecting quality of life in patients with hereditary hemorrhagic telangiectasia (HHT; also known a
78 tations in the human endoglin gene ENG cause hereditary hemorrhagic telangiectasia (HHT1), a disease
81 which is commonly present due to concurrent hereditary hemorrhagic telangiectasia: iron deficiency i
84 usually have the simultaneous occurrence of hereditary hemorrhagic telangiectasia (juvenile polyposi
87 stive linkage of pulmonary hypertension with hereditary hemorrhagic telangiectasia on chromosome 12q1
89 telangiectasia (juvenile polyposis syndrome-hereditary hemorrhagic telangiectasia overlap syndrome)
90 mutations of the ALK1 gene in human type II hereditary hemorrhagic telangiectasia patients suggest t
91 ic fibrosis, alpha 1-antitrypsin deficiency, hereditary hemorrhagic telangiectasia, sarcoidosis, coro
92 ave therapeutic value for the alleviation of hereditary hemorrhagic telangiectasia symptoms, such as
93 tations in the human endoglin gene result in hereditary hemorrhagic telangiectasia type 1, a vascular
94 l-1 and ACVR1/ALK2, responsible for cases of hereditary hemorrhagic telangiectasia type 2 (HHT2) and
97 or implicated in the human vascular disorder hereditary hemorrhagic telangiectasia type 2 (HHT2).
98 Mutations in the gene encoding ALK1 cause hereditary hemorrhagic telangiectasia type 2, a rare gen
99 l for the human autosomal dominant disorder, hereditary hemorrhagic telangiectasia type 2, in which d
100 -confirmed PAVMs (including 403 [90.5%] with hereditary hemorrhagic telangiectasia) were recruited to
101 activin-like kinase receptor 1 (ALK1) cause hereditary hemorrhagic telangiectasia, whereas bone morp