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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 nd most common neurocutaneous syndrome after neurofibromatosis.
5 in SDHB (n = 2), SDHD (n = 3), RET (n = 5), neurofibromatosis 1 (n = 1), and myc-associated factor X
6 negative Ras-MAPK-ERK regulator linked to a neurofibromatosis 1 (NF-1)-like human syndrome; however,
7 he phosphatase and tensin homolog (Pten) and neurofibromatosis 1 (Nf1) genes recently were found to b
9 arning to rut mutants, whereas expression of Neurofibromatosis 1 (NF1) in alpha/beta neurons is suffi
10 of children develop PA in the context of the neurofibromatosis 1 (NF1) inherited tumor predisposition
13 n EVH [Ena/Vasp homology] domain 1) and NF1 (neurofibromatosis 1) genes underlie clinically related h
14 yndrome, tuberous sclerosis complex 1 and 2, neurofibromatosis 1, phosphatase and tensin homolog, and
18 ious studies from our laboratories have used neurofibromatosis-1 (NF1) genetically engineered mouse (
20 ommon clinical problems in children with the neurofibromatosis-1 (NF1) inherited cancer syndrome.
22 ma resulting from either inactivation of the neurofibromatosis-1 (Nf1) tumor suppressor gene or const
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
41 we isolated earlier as an interactor of the neurofibromatosis 2 protein merlin, was independently id
42 er), a homolog of the human tumor suppressor neurofibromatosis 2, is required to coordinate prolifera
45 association of juvenile xanthogranuloma with neurofibromatosis and chronic juvenile myeloid leukemia
47 sus on the genetic and clinical diagnosis of neurofibromatosis and Proteus syndrome has allowed advan
49 growth of neurofibromas in a mouse model of neurofibromatosis and that genetic and pharmacological i
50 ses, including Fanconi anemia, hemophilia B, neurofibromatosis, and phenylketonuria, can be caused by
53 multiple sclerosis, Guillain-Barre disease, neurofibromatosis, diseases of the neuromuscular junctio
57 t neurofibroma formation in individuals with neurofibromatosis might result in part from a Ras-PI3K-A
58 ling contributes to neurofibroma growth in a neurofibromatosis mouse model (Nf1(fl/fl);Dhh-Cre) or in
59 for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (
61 1 (MEN1), von Hippel Lindau (VHL) syndrome, neurofibromatosis (NF-1), and possibly tuberous sclerosi
62 fiers of glioma risk in patients with type I neurofibromatosis (NF1) could help support personalized
66 on the recent clinical insights into type I neurofibromatosis (NF1), the most common geno-oculo-derm
67 th disorders such as Legius syndrome, type 2 neurofibromatosis (NF2), and multiple lentigenes syndrom
72 targeted therapies have become a reality for neurofibromatosis patients, and hold substantial promise
73 esions in a cohort of 49 children with JMML, neurofibromatosis phenotype (and thereby NF1 mutation) w
75 the numerous growths that covered his body: neurofibromatosis, Proteus syndrome, and a combination o
76 dor Hospital presented disfigurements due to neurofibromatosis, severe burns, or ballistic trauma and
77 (male individuals only 30%; mixed sex 22%), neurofibromatosis type 1 (18%), Down's syndrome (16%), N
78 ccinate dehydrogenase B-D mutation (n = 21), neurofibromatosis type 1 (n = 1), RET (n = 1), no germli
81 in children with refractory solid tumors and neurofibromatosis type 1 (NF1) -related plexiform neurof
83 ances in our understanding of the biology of neurofibromatosis type 1 (NF1) and neurofibromatosis typ
85 ifferent VA testing methods in children with neurofibromatosis type 1 (NF1) and/or optic pathway glio
89 th a broad range of signs typically found in neurofibromatosis type 1 (NF1) but no detectable NF1 ger
90 etermine the risk of cancer in patients with neurofibromatosis type 1 (NF1) by cancer type, age, and
98 In this review, we highlight advances in neurofibromatosis type 1 (NF1) genetically engineered mo
99 e imaging for an optic pathway glioma and/or neurofibromatosis type 1 (NF1) had multiple 6 x 6 mm vol
102 found that loss of the tumor suppressor gene neurofibromatosis type 1 (Nf1) increased HSF1 levels and
103 from tumor cells, we demonstrate how loss of neurofibromatosis type 1 (NF1) increases RAS-GTP levels
104 mors (pilocytic astrocytomas) arising in the neurofibromatosis type 1 (NF1) inherited cancer predispo
130 ival rates and the leading cause of death in neurofibromatosis type 1 (NF1) patients under 40 years o
131 e observation that half of MPNSTs develop in neurofibromatosis type 1 (NF1) patients, subsequent to N
136 roma to a malignant sarcoma in patients with neurofibromatosis type 1 (NF1) syndrome remains unclear.
141 tions in the NF1 tumor suppressor gene cause neurofibromatosis type 1 (NF1), a common genetic disorde
142 ris) is one of seven diagnostic criteria for neurofibromatosis type 1 (NF1), a common monogenic disor
143 y the NF1 gene, the mutation of which causes Neurofibromatosis type 1 (NF1), a genetic disorder chara
144 metastatic sarcomas that are associated with neurofibromatosis type 1 (NF1), a prominent inherited ge
145 sion profiles in iN cells from patients with neurofibromatosis type 1 (NF1), a single-gene multifacet
146 OPG), seen in 15% to 20% of individuals with neurofibromatosis type 1 (NF1), account for significant
148 an important ocular finding in patients with neurofibromatosis type 1 (NF1), and early detection of t
149 n, in which loss-of-function mutations cause Neurofibromatosis Type 1 (NF1), contributes to the major
151 on inherited cancer predisposition syndrome, neurofibromatosis type 1 (NF1), the prevalence of these
152 ging a genetically engineered mouse model of neurofibromatosis type 1 (NF1)-associated optic glioma,
153 omas, OPGs), especially in children with the neurofibromatosis type 1 (NF1)-inherited tumor predispos
173 d, such as Angelman syndrome, Rett syndrome, Neurofibromatosis Type 1 and Fragile X syndrome, the cla
174 arly-phase data suggested that children with neurofibromatosis type 1 and inoperable plexiform neurof
175 PK kinase (MEK) 1 and 2, in children who had neurofibromatosis type 1 and inoperable plexiform neurof
176 ant signaling pathway that is deregulated in neurofibromatosis type 1 and malignant peripheral nerve
177 initially thought to have NS was revised to neurofibromatosis type 1 based on an NF1 nonsense mutati
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 that encompass NF1 cause 5%-10% of cases of neurofibromatosis type 1, and individuals with microdele
193 enetics, and cancer screening guidelines for neurofibromatosis type 1, Beckwith-Wiedemann syndrome/ h
194 essor NF1 contributes to the pathobiology of neurofibromatosis type 1, but a related role has not bee
195 nd to provide optimum care for patients with neurofibromatosis type 1, clinicians must be aware of th
196 r muscles, lymphedema-distichiasis syndrome, neurofibromatosis type 1, congenital myasthenic syndrome
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 iology of neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2) as they relate to the dev
219 teral vestibular schwannomas associated with neurofibromatosis type 2 (NF2) experience significant mo
220 n the long arm of chromosome 22 and near the neurofibromatosis type 2 (NF2) gene (22q12) were most fr
233 ort here that liver-specific deletion of the neurofibromatosis type 2 (Nf2) tumor suppressor gene in
238 vant targets, we examined the role of YAP in neurofibromatosis type 2 (NF2) using cell and animal mod
239 uirement for the PAKs in the pathogenesis of Neurofibromatosis type 2 (NF2), a dominantly inherited c
241 ions in the merlin tumor suppressor underlie neurofibromatosis type 2 (NF2), a familial autosomal dom
242 function mutations or deletions in NF2 cause neurofibromatosis type 2 (NF2), a multiple tumor forming
243 s of expression of merlin is responsible for neurofibromatosis type 2 (NF2), which is characterized b
244 ene in a panel of 239 schwannoma tumours: 97 neurofibromatosis type 2 (NF2)-related schwannomas, 104
247 refers to an Italian 69 year old woman with neurofibromatosis type 2 and a pancreatic gastrinoma.
248 om 21 vestibular schwannomas associated with neurofibromatosis type 2 and from 22 sporadic schwannoma
250 hearing in some, but not all, patients with neurofibromatosis type 2 and was associated with a reduc
258 hese actions of ezrin are antagonized by the neurofibromatosis type 2 tumor-suppressor protein merlin
259 examined from an additional 39 patients with neurofibromatosis type 2 who were retrospectively identi
260 erlin/NF2 (moesin-ezrin-radixin-like protein/neurofibromatosis type 2) is a tumor suppressor found to
262 nd hearing loss is a serious complication of neurofibromatosis type 2, a genetic condition associated
263 umours that occur in patients suffering from neurofibromatosis type 2, all spontaneous schwannomas an
264 xternal ophthalmoplegia, myotonic dystrophy, neurofibromatosis type 2, and basal cell nevus syndrome.
272 We also show that KIBRA associates with neurofibromatosis type 2/Merlin in a Ser(539) phosphoryl
274 may occur sporadically, in association with neurofibromatosis type I (NF1 associated) or after radio
275 n tumors encountered in individuals with the neurofibromatosis type I (NF1) cancer predisposition syn
290 fragile X, Rett syndrome, Down syndrome, and neurofibromatosis type I suggest that it is possible to
292 decades ago as a tumor suppressor underlying Neurofibromatosis type II, its precise molecular mechani
295 mors (MPNST) develop in approximately 10% of neurofibromatosis type-1 patients and are a major contri
296 Merlin, the Drosophila homolog of the human Neurofibromatosis type-2 (NF2) tumor-suppressor gene, an
297 In humans, mutations in the NF2 gene cause neurofibromatosis type-2 (NF2), a cancer syndrome charac
298 ted tumor predisposition syndrome, including neurofibromatosis types 1 (NF1) and 2 (NF2), familial sc
299 rofibromin, cause the human genetic disorder neurofibromatosis, which is characterized by formation o
300 t of a zebrafish model of von Recklinghausen neurofibromatosis will allow for structure-function anal
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