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1 rent orbital schwannoma without evidence for neurofibromatosis.
2 potential tumor suppressor with relevance to neurofibromatosis.
3 g to determine tumor burden in patients with neurofibromatosis.
4 nital, four were neuromuscular, and two were neurofibromatosis.
5 l uORF frameshift variant upstream of NF2 in neurofibromatosis.
6 nd most common neurocutaneous syndrome after neurofibromatosis.
7 in SDHB (n = 2), SDHD (n = 3), RET (n = 5), neurofibromatosis 1 (n = 1), and myc-associated factor X
8 negative Ras-MAPK-ERK regulator linked to a neurofibromatosis 1 (NF-1)-like human syndrome; however,
9 he phosphatase and tensin homolog (Pten) and neurofibromatosis 1 (Nf1) genes recently were found to b
10 arning to rut mutants, whereas expression of Neurofibromatosis 1 (NF1) in alpha/beta neurons is suffi
11 of children develop PA in the context of the neurofibromatosis 1 (NF1) inherited tumor predisposition
15 n EVH [Ena/Vasp homology] domain 1) and NF1 (neurofibromatosis 1) genes underlie clinically related h
16 yndrome, tuberous sclerosis complex 1 and 2, neurofibromatosis 1, phosphatase and tensin homolog, and
20 ious studies from our laboratories have used neurofibromatosis-1 (NF1) genetically engineered mouse (
21 ommon clinical problems in children with the neurofibromatosis-1 (NF1) inherited cancer syndrome.
22 s, T cells, and microglia interact to govern Neurofibromatosis-1 (NF1) low-grade glioma (LGG) growth.
23 In this regard, mutational inactivation of neurofibromatosis-1 (NF1), tuberous sclerosis complex (T
25 ients and are a major contributing factor to neurofibromatosis-1 patient mortality and morbidity.
26 ession was also determined in KIT mutant and neurofibromatosis-1-associated GIST, and complex II acti
29 the inherited cancer predisposition syndrome neurofibromatosis 2 (NF2) develop several central nervou
36 er), a homolog of the human tumor suppressor neurofibromatosis 2, is required to coordinate prolifera
39 t not in N/S HNSTs arising in the context of neurofibromatosis (6 patients) or outside a tumor syndro
40 cause of extensive disfigurement from type 1 neurofibromatosis and 6 weeks after complete loss of his
42 sus on the genetic and clinical diagnosis of neurofibromatosis and Proteus syndrome has allowed advan
44 growth of neurofibromas in a mouse model of neurofibromatosis and that genetic and pharmacological i
47 multiple sclerosis, Guillain-Barre disease, neurofibromatosis, diseases of the neuromuscular junctio
51 ling contributes to neurofibroma growth in a neurofibromatosis mouse model (Nf1(fl/fl);Dhh-Cre) or in
53 1 (MEN1), von Hippel Lindau (VHL) syndrome, neurofibromatosis (NF-1), and possibly tuberous sclerosi
54 fiers of glioma risk in patients with type I neurofibromatosis (NF1) could help support personalized
57 on the recent clinical insights into type I neurofibromatosis (NF1), the most common geno-oculo-derm
58 th disorders such as Legius syndrome, type 2 neurofibromatosis (NF2), and multiple lentigenes syndrom
62 targeted therapies have become a reality for neurofibromatosis patients, and hold substantial promise
63 esions in a cohort of 49 children with JMML, neurofibromatosis phenotype (and thereby NF1 mutation) w
65 the numerous growths that covered his body: neurofibromatosis, Proteus syndrome, and a combination o
66 dor Hospital presented disfigurements due to neurofibromatosis, severe burns, or ballistic trauma and
67 (male individuals only 30%; mixed sex 22%), neurofibromatosis type 1 (18%), Down's syndrome (16%), N
68 ccinate dehydrogenase B-D mutation (n = 21), neurofibromatosis type 1 (n = 1), RET (n = 1), no germli
72 ances in our understanding of the biology of neurofibromatosis type 1 (NF1) and neurofibromatosis typ
74 ifferent VA testing methods in children with neurofibromatosis type 1 (NF1) and/or optic pathway glio
78 th a broad range of signs typically found in neurofibromatosis type 1 (NF1) but no detectable NF1 ger
79 etermine the risk of cancer in patients with neurofibromatosis type 1 (NF1) by cancer type, age, and
87 In this review, we highlight advances in neurofibromatosis type 1 (NF1) genetically engineered mo
88 e imaging for an optic pathway glioma and/or neurofibromatosis type 1 (NF1) had multiple 6 x 6 mm vol
90 found that loss of the tumor suppressor gene neurofibromatosis type 1 (Nf1) increased HSF1 levels and
91 from tumor cells, we demonstrate how loss of neurofibromatosis type 1 (NF1) increases RAS-GTP levels
92 mors (pilocytic astrocytomas) arising in the neurofibromatosis type 1 (NF1) inherited cancer predispo
108 Pulmonary hypertension (PH) associated with neurofibromatosis type 1 (NF1) is a rare and largely unk
118 ival rates and the leading cause of death in neurofibromatosis type 1 (NF1) patients under 40 years o
119 e observation that half of MPNSTs develop in neurofibromatosis type 1 (NF1) patients, subsequent to N
120 f dysregulated miRs have not been studied in neurofibromatosis type 1 (NF1) plexiform neurofibromas (
125 roma to a malignant sarcoma in patients with neurofibromatosis type 1 (NF1) syndrome remains unclear.
126 (PN) tumors are a hallmark manifestation of neurofibromatosis type 1 (NF1) that arise in the Schwann
128 characterized by biallelic mutations in the neurofibromatosis type 1 (NF1) tumor suppressor gene.
129 neoplasms (SNs) in children with pathogenic neurofibromatosis type 1 (NF1) variants exposed to radia
132 tions in the NF1 tumor suppressor gene cause neurofibromatosis type 1 (NF1), a common genetic disorde
134 ris) is one of seven diagnostic criteria for neurofibromatosis type 1 (NF1), a common monogenic disor
135 Neurofibromin gene (NF1) mutation causes neurofibromatosis type 1 (NF1), a disorder in which brai
136 y the NF1 gene, the mutation of which causes Neurofibromatosis type 1 (NF1), a genetic disorder chara
137 metastatic sarcomas that are associated with neurofibromatosis type 1 (NF1), a prominent inherited ge
138 sion profiles in iN cells from patients with neurofibromatosis type 1 (NF1), a single-gene multifacet
140 an important ocular finding in patients with neurofibromatosis type 1 (NF1), and early detection of t
141 n, in which loss-of-function mutations cause Neurofibromatosis Type 1 (NF1), contributes to the major
143 on inherited cancer predisposition syndrome, neurofibromatosis type 1 (NF1), the prevalence of these
144 ging a genetically engineered mouse model of neurofibromatosis type 1 (NF1)-associated optic glioma,
147 omas, OPGs), especially in children with the neurofibromatosis type 1 (NF1)-inherited tumor predispos
165 e sheath tumors often arise in patients with neurofibromatosis type 1 and are among the most treatmen
166 d, such as Angelman syndrome, Rett syndrome, Neurofibromatosis Type 1 and Fragile X syndrome, the cla
167 In this phase 2 trial, most children with neurofibromatosis type 1 and inoperable plexiform neurof
168 arly-phase data suggested that children with neurofibromatosis type 1 and inoperable plexiform neurof
169 PK kinase (MEK) 1 and 2, in children who had neurofibromatosis type 1 and inoperable plexiform neurof
170 dromic children, whereas 2 subtypes, JMML in neurofibromatosis type 1 and JMML in children with CBL s
171 ant signaling pathway that is deregulated in neurofibromatosis type 1 and malignant peripheral nerve
173 s in plexiform neurofibromas associated with neurofibromatosis type 1 and the use of Ras pathway inhi
174 initially thought to have NS was revised to neurofibromatosis type 1 based on an NF1 nonsense mutati
176 the relative contribution of vision loss and neurofibromatosis type 1 co-diagnosis within a large sam
177 targeting the affected signaling pathways in neurofibromatosis type 1 for the treatment of cognitive
180 stages of development.SIGNIFICANCE STATEMENT Neurofibromatosis type 1 is associated with cognitive pr
186 years after CRT correlated with patient age, neurofibromatosis type 1 status, tumor location and volu
187 of Nf1, the Ras GTPase gene underlying human neurofibromatosis type 1 syndrome, causes lens dysgenesi
189 ildren with an OPG (sporadic or secondary to neurofibromatosis type 1) who were cooperative for visua
190 n (phosphatase with tensin homolog) and Nf1 (neurofibromatosis type 1), enhanced filopodial motility.
191 n in the NF1 tumor suppressor gene underlies Neurofibromatosis type 1, a complex disease that enhance
192 enetics, and cancer screening guidelines for neurofibromatosis type 1, Beckwith-Wiedemann syndrome/ h
193 essor NF1 contributes to the pathobiology of neurofibromatosis type 1, but a related role has not bee
194 nd to provide optimum care for patients with neurofibromatosis type 1, clinicians must be aware of th
195 r muscles, lymphedema-distichiasis syndrome, neurofibromatosis type 1, congenital myasthenic syndrome
196 This study shows that, in a mouse model of neurofibromatosis type 1, cortical inhibition is increas
197 of neurofibromin 1 (Nf1), a gene mutated in neurofibromatosis type 1, unlocked a latent oligodendroc
198 asionally been described in association with neurofibromatosis type 1, whereas an association with ne
199 enotype is reminiscent of the human disorder neurofibromatosis type 1, which is characterized by disf
204 l therapies are lacking for the treatment of neurofibromatosis type 1-related plexiform neurofibromas
217 ng in approximately 35%-40% of patients with neurofibromatosis type 2 (NF2) and progressive vestibula
218 of the tumor suppressor NF2/merlin underlies neurofibromatosis type 2 (NF2) and some sporadic tumors.
219 iology of neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2) as they relate to the dev
221 teral vestibular schwannomas associated with neurofibromatosis type 2 (NF2) experience significant mo
222 n the long arm of chromosome 22 and near the neurofibromatosis type 2 (NF2) gene (22q12) were most fr
237 ort here that liver-specific deletion of the neurofibromatosis type 2 (Nf2) tumor suppressor gene in
241 vant targets, we examined the role of YAP in neurofibromatosis type 2 (NF2) using cell and animal mod
242 uirement for the PAKs in the pathogenesis of Neurofibromatosis type 2 (NF2), a dominantly inherited c
244 ions in the merlin tumor suppressor underlie neurofibromatosis type 2 (NF2), a familial autosomal dom
245 function mutations or deletions in NF2 cause neurofibromatosis type 2 (NF2), a multiple tumor forming
246 mutations underlie inherited tumor syndrome neurofibromatosis type 2 (NF2), as well as various spora
247 ene in a panel of 239 schwannoma tumours: 97 neurofibromatosis type 2 (NF2)-related schwannomas, 104
251 refers to an Italian 69 year old woman with neurofibromatosis type 2 and a pancreatic gastrinoma.
252 om 21 vestibular schwannomas associated with neurofibromatosis type 2 and from 22 sporadic schwannoma
254 hearing in some, but not all, patients with neurofibromatosis type 2 and was associated with a reduc
262 eral point mutants of Merlin associated with neurofibromatosis type 2 that display an aberrant phosph
264 hese actions of ezrin are antagonized by the neurofibromatosis type 2 tumor-suppressor protein merlin
265 examined from an additional 39 patients with neurofibromatosis type 2 who were retrospectively identi
266 erlin/NF2 (moesin-ezrin-radixin-like protein/neurofibromatosis type 2) is a tumor suppressor found to
268 nd hearing loss is a serious complication of neurofibromatosis type 2, a genetic condition associated
269 xternal ophthalmoplegia, myotonic dystrophy, neurofibromatosis type 2, and basal cell nevus syndrome.
277 We also show that KIBRA associates with neurofibromatosis type 2/Merlin in a Ser(539) phosphoryl
279 may occur sporadically, in association with neurofibromatosis type I (NF1 associated) or after radio
280 n tumors encountered in individuals with the neurofibromatosis type I (NF1) cancer predisposition syn
291 fragile X, Rett syndrome, Down syndrome, and neurofibromatosis type I suggest that it is possible to
294 decades ago as a tumor suppressor underlying Neurofibromatosis type II, its precise molecular mechani
297 mors (MPNST) develop in approximately 10% of neurofibromatosis type-1 patients and are a major contri
298 In humans, mutations in the NF2 gene cause neurofibromatosis type-2 (NF2), a cancer syndrome charac
299 ted tumor predisposition syndrome, including neurofibromatosis types 1 (NF1) and 2 (NF2), familial sc
300 t of a zebrafish model of von Recklinghausen neurofibromatosis will allow for structure-function anal