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An update on choroidal abnormalities and retinal microvascular changes in neuro…

Mallone(F),Lucchino(L),Giustini(S),Lambiase(… Orphanet J Rare Dis 2022-00-13

...NF1. The CAs, identified with near-infrared reflectance, have been reported with a frequency of up to 100% in NF1, and h...

The NF1 gene in tumor syndromes and melanoma.

Kiuru(M),Busam(KJ) Lab Invest 2017-00-00

...NF1-mutant, and triple wild-type tumors. The NF1 protein, neurofibromin 1, negatively regulates RAS proteins through GTP...

Primary progressive multiple sclerosis and neurofibromatosis type 1.

Iwanowski(P),Kowalska(M),Prendecki(M),Dorsze… Mult Scler Relat Disord 2019-07-00

...NF1) is an autosomal dominant neurocutaneous disease. NF1 gene mutations lead to clinical manifestation in the periphera...

Neurosurgical contribution within a complex NF1 supraregional service.

Raffalli-Ebezant(H),George(KJ),Burkitt-Wrigh… Clin Neurol Neurosurg 2019-00-00

...NF1) center. We reviewed all NF1 Neurosurgical MDTs, NF1 Neurosurgical clinics and all neurosurgical procedures carried ...

The NF1 gene: a frequent mutational target in sporadic pheochromocytomas and be…

Welander(J),Söderkvist(P),Gimm(O) Endocr Relat Cancer 2013-08-00

...NF1 gene, have a tiny but not negligible risk of developing pheochromocytomas. It is, therefore, of interest that the NF...

Speech fluency in neurofibromatosis type 1.

Cosyns(M),Mortier(G),Janssens(S),Saharan(N),… J Fluency Disord 2010-03-00

...NF1. The present study investigated speech fluency in 21 Dutch speaking adults with NF1. Speech samples were collected i...

Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromato…

Ruggieri(M),Mastrangelo(M),Spalice(A),Marian… Am J Med Genet A 2011-03-00

...NF1) have been described; however, the cases were unilateral and had negative NF1 genetic testing. We describe an 11-yea...

Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutat…

Xu(W),Yang(X),Hu(X),Li(S) Int J Mol Med 2014-07-00

...NF1) is a common autosomal dominant genetic disorder caused by mutations in the NF1 gene. One of the hallmarks of NF1 is...

NF1 is a tumor suppressor in neuroblastoma that determines retinoic acid respon…

Hölzel(M),Huang(S),Koster(J),Ora(I),Lakeman(… Cell 2010-07-23

...NF1 and retinoic acid-induced differentiation in neuroblastoma. Loss of NF1 activates RAS-MEK signaling, which in turn r...

NF1-Dependent Transcriptome Regulation in the Melanocyte Lineage and in Melanom…

Larribère(L),Utikal(J) J Clin Med 2021-07-29

...NF1 partial loss of function. We found that NF1 mutations had a differential impact on pluripotency and on melanoblast d...

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