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1  while others result in a high risk (type 2B VHL disease).
2 he complex genotype-phenotype correlation in VHL disease.
3 plastic nature and integral association with VHL disease.
4  pVHL to the elongins plays a causal role in VHL disease.
5 o and is frequently mutated in families with VHL disease.
6 er exploration of this strategy for treating VHL disease.
7 ablishes NET as an independent tumor type of VHL disease.
8 d clear cell renal carcinoma associated with VHL disease.
9 re are no effective treatments available for VHL disease.
10  surveillance and early treatment for ocular VHL disease.
11 most common VHL point mutation in hereditary VHL disease.
12 nal cell carcinoma neoplasms associated with VHL disease.
13 orts therapeutic targeting of HIF2A early in VHL disease.
14 r those manifesting sporadic counterparts of VHL disease.
15 ts with renal cell carcinoma associated with VHL disease.
16 nly variants in VHL have been shown to cause VHL disease.
17  leading cause of morbidity and mortality in VHL disease.
18 tudinally to determine progression of ocular VHL disease.
19 onary abnormalities were detected in classic VHL disease.
20 t a family history or additional features of VHL disease.
21 art, explain organ-specific tumorigenesis in VHL disease.
22  preferentially and multifocally targeted in VHL disease.
23 than the general population of patients with VHL disease.
24 ochromocytoma pathogenesis in the setting of VHL disease.
25  not phaeochromocytoma (PHE) occur in type 1 VHL disease.
26 eochromocytoma without the other stigmata of VHL disease.
27 r deletion of this domain is associated with VHL disease.
28 evelopment of pancreatic cystic neoplasia in VHL disease.
29 eutic approaches targeting VHL deficiency in VHL diseases.
30 radically or as a part of von Hippel-Lindau (VHL) disease.
31  study them in a model of von Hippel Lindau (VHL) disease.
32 oma (RH) in families with von Hippel-Lindau (VHL) disease.
33 ne inactivation occurs in von Hippel-Lindau (VHL) disease.
34 inherited tumor syndrome, von Hippel-Lindau (VHL) disease.
35                                           In VHL disease, a germline mutation of the VHL tumor suppre
36 issue-specificity of malignant conversion in VHL disease, a problem not easily explained by strict ge
37 are a cardinal feature of von Hippel-Lindau (VHL) disease, a dominantly inherited multisystem familia
38 o occurs in patients with von Hippel-Lindau (VHL) disease, a syndrome consisting of tumors caused by
39                    Twenty-five patients with VHL disease and 29 surgically confirmed pancreatic NETs
40  may not be at risk for developing classical VHL disease and a further group may be mosaic for a germ
41 of 120 mg once daily for certain adults with VHL disease and adults with advanced renal cell carcinom
42 ith classic, heterozygous VHL mutations have VHL disease and are at high risk of multiple tumors (e.g
43 duce a mouse model that closely mimics human VHL disease and avoids embryonic lethality, we used Cre/
44 otype-phenotype correlations are emerging in VHL disease and can be rationalized if pVHL has function
45 reatment of ccRCCs arising in the setting of VHL disease and has advanced to phase III testing for sp
46 e of two other HIF pathway diseases: classic VHL disease and HIF-2alpha gain-of-function mutation.
47 might be implicated in tumorigenesis in both VHL disease and in other cancers with HIF upregulation.
48 mor suppressor gene, the gene inactivated in VHL disease and in sporadic clear-cell renal carcinomas,
49  suppressor gene is mutated in patients with VHL disease and in the majority of patients with sporadi
50  suppressor gene is mutated in patients with VHL disease and in the majority of patients with sporadi
51 imary cilium in renal cysts of patients with VHL disease and in VHL-defective cell lines.
52 tial mechanism for renal cyst development in VHL disease and may help in the understanding of how VHL
53 ngle haemangioblastoma, no family history of VHL disease and no evidence of retinal or abdominal mani
54  suppressor gene is linked to the hereditary VHL disease and sporadic clear cell renal cell carcinoma
55 ogenic ELOC variants being a novel cause for VHL disease and suggest that genetic testing for ELOC va
56 nal progression of ocular von Hippel-Lindau (VHL) disease and analysis of patient factors influencing
57 osomal dominant condition von Hippel-Lindau (VHL) disease and is implicated in most sporadic clear ce
58 e, involvement of the fellow eye with ocular VHL disease, and missense or protein-truncating germline
59 pe 2C VHL disease), in contrast to classical VHL disease, appear to be normal with respect to HIF reg
60 ing inherited missense mutations detected in VHL disease are within the elongin-binding domain of VHL
61 majority of patients with Von Hippel-Lindau (VHL) disease are affected by a VHL germline mutation inv
62             Patients with von Hippel-Lindau (VHL) disease are at risk for the development of end-stag
63             Patients with von Hippel-Lindau (VHL) disease are at risk of developing tumors in the eye
64 Lindau (VHL) tumor suppressor gene syndrome, VHL disease, are unknown.
65 ecause VHL mutations have been found in both VHL disease-associated and sporadic RCC.
66                          We demonstrate that VHL disease-associated central nervous system tumors are
67 fan showed meaningful antitumour activity in VHL disease-associated CNS haemangioblastomas that was s
68 comparison of genomic profiles revealed that VHL disease-associated tumors are similar to a subgroup
69 es in 90 tumors, including both sporadic and VHL disease-associated tumors, in hopes of identifying n
70 ul antitumour activity in von Hippel-Lindau (VHL) disease-associated neoplasms in the ongoing, single
71  the cell responsible for von Hippel-Lindau (VHL) disease-associated tumor formation has been controv
72 uarters (73%) of participants without ocular VHL disease at baseline remained disease free at the end
73                       Among eyes with ocular VHL disease at baseline, 88% did not demonstrate RCHs in
74  by whole-exome sequencing in a proband with VHL disease but without a detectable VHL mutation.
75           In addition, several type-specific VHL disease-causing mutants, including those that have r
76 or gene causes the familial cancer syndrome, VHL disease, characterized by a predisposition to renal
77 familial cancer syndrome, von Hippel-Lindau (VHL) disease, characterized by a predisposition to renal
78        All VHL mutations linked to classical VHL disease compromise this pVHL function although some
79 n Hippel-Lindau (VHL) gene are pathogenic in VHL disease, congenital polycythaemia and clear cell ren
80 cerous lesions in kidneys from patients with VHL disease correlates with marked down-regulation of th
81             Patients with von Hippel-Lindau (VHL) disease develop a spectrum of bilateral clear-cell
82                      For example, almost all VHL disease families that develop paraganglioma have mis
83                        The risk that a given VHL disease family will manifest some or all these tumor
84 hould undergo genetic testing for pathologic VHL disease gene variants as part of an appropriate medi
85 rous) adenomas (MCAs) and von Hippel-Lindau (VHL) disease has been suggested.
86                                Patients with VHL disease have a propensity to develop neoplasms of se
87  diagnosis and treatment of individuals with VHL disease have been established in Great Britain, Denm
88 basis for genotype-phenotype correlations in VHL disease have not been defined.
89             Patients with von Hippel-Lindau (VHL) disease have a high incidence of renal cell carcino
90 ndocrine tumors (NETs) in von Hippel-Lindau (VHL) disease have been reported, their pathological feat
91 reditary cancer syndrome, von Hippel-Lindau (VHL) disease, have shed new light on the molecular patho
92 tigeneration kindred with von Hippel-Lindau (VHL) disease in whom clinical or genetic screening led t
93 inked to familial pheochromocyctoma (type 2C VHL disease), in contrast to classical VHL disease, appe
94                                Therefore, in VHL disease, inactivation of the VHL wild-type allele ap
95                            Manifestations of VHL disease include cysts in several organs, particularl
96  patients with well-established diagnosis of VHL disease including development of characteristic tumo
97 similar to histologies seen in patients with VHL disease, including areas of distorted tubular struct
98 e of consensus, 2A); (2) patients at risk of VHL disease, including first-degree relatives of patient
99  development of neoplasias characteristic of VHL disease, including renal cell carcinoma (RCC).
100 au (VHL) protein function is a key driver of VHL diseases, including sporadic and inherited clear cel
101 baseline age, younger age at onset of ocular VHL disease, involvement of the fellow eye with ocular V
102                 Progression to malignancy in VHL disease is associated primarily with the development
103                                              VHL disease is characterized by distinct clinical subtyp
104 A stepwise model for malignant conversion in VHL disease is herein proposed.
105                         The risk of ccRCC in VHL disease is linked to the degree of destabilization r
106                           von Hippel-Lindau (VHL) disease is a dominantly inherited family cancer syn
107                           von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome caused by g
108                           von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome caused by g
109                           von Hippel-Lindau (VHL) disease is a multisystem inherited cancer syndrome
110                           von Hippel-Lindau (VHL) disease is a pleomorphic familial tumor syndrome th
111                           von Hippel-Lindau (VHL) disease is a rare familial cancer predisposition sy
112                           von Hippel-Lindau (VHL) disease is a rare hereditary cancer syndrome that c
113                           von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited cancer
114                Generally, von Hippel-Lindau (VHL) disease is caused by a germline mutation of the VHL
115                           von Hippel-Lindau (VHL) disease is caused by germ-line mutations in the VHL
116                           Von Hippel-Lindau (VHL) disease is caused by germline mutations in the VHL
117                           von Hippel-Lindau (VHL) disease is caused by germline mutations of the VHL
118                           von Hippel-Lindau (VHL) disease is caused by loss of function of the VHL tu
119                       The von Hippel-Lindau (VHL) disease is caused by VHL germ line mutation.
120                           Von Hippel-Lindau (VHL) disease is characterized by frequent mutation of VH
121 idney disease (ADPKD) and von Hippel-Lindau (VHL) disease lead to large kidney cysts that share patho
122                         Patients with ocular VHL disease maintain relative anatomic and functional st
123 istinct roles in the development of specific VHL disease manifestations.
124 three groups of patients with no evidence of VHL disease, MEN 2 or NF1: Group A, eight kindreds with
125  (MEN 2) (MIM No 171400), von Hippel-Lindau (VHL) disease (MIM No 199300), and neurofibromatosis type
126                                              VHL disease mutants, in two of the mutation hot spots fa
127 on and was independent of von Hippel-Lindau (VHL) disease mutations.
128  subspecialty training, with experience with VHL disease or RHs, or with both and ideally within the
129 e complex genotype-phenotype relationship of VHL disease or whether the other lesser or yet character
130 irst-degree relatives of patients with known VHL disease, or any patient with single or multifocal re
131 crodissected archival renal lesions from two VHL disease patients were studied for loss of heterozygo
132                         Approximately 20% of VHL disease patients, however, exhibit germline deletion
133 l for high-risk cohorts such as the familial VHL disease patients.
134                                   In classic VHL disease, patients are germline heterozygous for muta
135  pseudohypoxic diseases and propose that the VHL disease-phenotypic spectrum could be explained solel
136                       The von Hippel-Lindau (VHL) disease product is thought to down-regulate transcr
137  systemic treatment option for patients with VHL disease-related CNS haemangioblastomas.
138 e complex genotype/phenotype correlations in VHL disease remain unknown.
139 e VHL tumour suppressor gene cause MEN 2 and VHL disease, respectively.
140                           von Hippel-Lindau (VHL) disease results from germline and somatic mutations
141 ded: (1) individuals with known or suspected VHL disease should undergo periodic ocular screening (ev
142                    Both MCAs associated with VHL disease showed LOH with at least one of the microsat
143  anatomic and functional stability in ocular VHL disease status over a mean follow-up of 8.2 +/- 4.0
144 ctions of pVHL impact the development of the VHL disease stigmata; the elucidation of which would hav
145 on Hippel-Lindau (VHL) gene are the cause of VHL disease that displays multiple benign and malignant
146 pVHL have been determined to be causative of VHL disease through the disruption of HIFalpha degradati
147 mas (RCH) associated with von Hippel-Lindau (VHL) disease treated with systemic sunitinib malate, an
148 sting potential antiangiogenic therapies for VHL disease treatment.
149 errant methylation of the von Hippel-Lindau (VHL) disease tumor suppressor gene in a human clear cell
150  clinical management of all-organ aspects of VHL disease was convened.
151                                  In 2 cases, VHL disease was documented clinically, and 10 cases were
152 ain insights into the pathogenesis of RCC in VHL disease we compared gene expression microarray profi
153 with expertise in organ-specific features of VHL disease were tasked with development of evidence-bas
154 approved for ccRCCs arising in patients with VHL disease, which is caused by germline VHL mutations.
155 n Hippel-Lindau (VHL) gene function leads to VHL disease, which is characterized by vascular tumors o
156 indau (VHL) tumor suppressor mutations cause VHL disease, which predisposes individuals to kidney can
157 ortality in patients with von Hippel-Lindau (VHL) disease, which is caused by germ line mutations tha
158 sult in a low risk of kidney cancer (type 2A VHL disease) while others result in a high risk (type 2B
159          Materials and Methods Patients with VHL disease who underwent surgical resection of tumors b
160 d be performed in individuals with suspected VHL disease with no detectable VHL variant.
161 ealed that VHL missense mutations that cause VHL disease without renal cancer, such as Tyr98His and T

 
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