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Nf1 mutation disrupts activity-dependent oligodendroglial plasticity and motor …

Pan(Y),Hysinger(JD),Yalçın(B),Lennon(JJ),Byu… Nat Neurosci 2024-08-00

...Nf1 mutation-specific manner due to differential PI3K/AKT activation. OPC-specific Nf1 loss impairs oligodendroglial dif...

Characterization of health concerns in people with neurofibromatosis type 1.

Fleming(J),Morgan(O),Wong(C),Schlub(TE),Berm… Mol Genet Genomic Med 2023-00-00

...NF1. Two-thirds of adults with NF1 reported limited awareness of NF1 services and poor knowledge of surveillance, partic...

Pulmonary hypertension associated with neurofibromatosis type 1.

Jutant(EM),Girerd(B),Jaïs(X),Savale(L),O'Con… Eur Respir Rev 2018-09-30

...NF1 (PH-NF1) is a rare but severe complication of NF1 and is classified as Group 5 PH, defined as "PH with unclear and/o...

Rare variants modulating phenotype in NF1 carriers.

Pasquinelli(E),Casamassima(G),Brunelli(G),Be… Sci Rep 2025-07-13

...NF1 variants. The analysis of 32 NF1 patients revealed that those with solid cancers carried a higher average of cancer ...

Theory of mind in children with Neurofibromatosis Type 1.

Payne(JM),Porter(M),Pride(NA),North(KN) Neuropsychology 2016-00-00

...NF1 and unaffected controls. ToM was assessed in children with NF1 (n = 26) and unaffected controls (n = 36) aged 4-12 y...

Neurofibromatosis-1 Gene Mutational Profiles Differ Between Syndromic Disease a…

Bewley(AF),Akinwe(TM),Turner(TN),Gutmann(DH) Neurol Genet 2022-08-00

...NF1) gene are not only responsible for the NF1 cancer predisposition syndrome, but also frequently identified in cancers...

Multiple increased osteoclast functions in individuals with neurofibromatosis t…

Stevenson(DA),Yan(J),He(Y),Li(H),Liu(Y),Zhan… Am J Med Genet A 2011-05-00

...NF1). We report the cellular phenotype of NF1 human-derived osteoclasts and compare the in vitro findings with the clini...

Homozygous inactivation of the NF1 gene in bone marrow cells from children with…

Side(L),Taylor(B),Cayouette(M),Conner(E),Tho… N Engl J Med 1997-06-12

...NF1 functions as a tumor-suppressor gene in immature myeloid cells, but inactivation of both NF1 alleles has not been de...

Molecular genetics of neurofibromatosis type 1 (NF1).

Shen(MH),Harper(PS),Upadhyaya(M) J Med Genet 1996-01-00

...NF1 is widely expressed in a variety of human and rat tissues. Four alternatively spliced NF1 transcripts have been iden...

Homonucleotide tracts, short repeats and CpG/CpNpG motifs are frequent sites fo…

Rodenhiser(DI),Andrews(JD),Mancini(DN),Jung(… Mutat Res 1997-02-03

...NF1 mutations, an important gap in our knowledge is an understanding of the mechanisms responsible for NF1 mutagenesis. ...

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