Literature Search

Lovatt(C),Williams(M),Gibbs(A),Mukhtar(A),Mo… Skin Health Dis 2024-10-00

...NF1 melanoma. Classical NF1 (n = 2, who develop tumours) and 3bp deletion NF1 (p. Met992del, who do not develop tumours)...

Yap(YS),Munusamy(P),Lim(C),Chan(CHT),Prawira… Breast Cancer Res Treat 2018-10-00

...NF1 patients compared to non-NF1 breast cancers. Overall survival was inferior in NF1 patients in multivariable analysis...

Koczkowska(M),Chen(Y),Xie(J),Callens(T),Gome… Hum Genet 2023-07-00

...NF1 pathogenic variants (PVs). Up to 30% of all NF1 PVs disrupt mRNA splicing, including deep intronic variants. Here, w...

De Luca(A),Bottillo(I),Dasdia(MC),Morella(A)… J Med Genet 2007-12-00

...NF1 gene. In our series, deletions encompassing >or=1 NF1 exons accounted for approximately 7% (14/201) of the NF1 gene ...

Ylä-Outinen(H),Koivunen(J),Nissinen(M),Björk… Lab Invest 2002-03-00

...NF1 mRNA under the same conditions by in situ hybridization. In differentiating keratinocytes, the NF1 mRNA signal inten...

Kim(A),Morgan(K),Hasz(DE),Wiesner(SM),Lauchl… Blood 2007-02-15

...NF1) syndrome is caused by germline mutations in the NF1 tumor suppressor, which encodes neurofibromin, a GTPase activat...

Nyström(AM),Ekvall(S),Allanson(J),Edeby(C),E… Clin Genet 2009-12-00

...NF1. Both disorders display considerable clinical variability. Features of NS have been observed in individuals with NF1...

Dasgupta(B),Li(W),Perry(A),Gutmann(DH) Cancer Res 2005-01-01

...NF1), develop optic pathway gliomas. The NF1 gene product, neurofibromin, functions as a negative regulator of RAS, such...

Maertens(O),Prenen(H),Debiec-Rychter(M),Wozn… Hum Mol Genet 2006-03-15

...NF1 patients, we studied seven GISTs from three NF1 patients with a combination of different techniques: mutation analys...

Büki(G),Bekő(A),Bödör(C),Urbán(P),Németh(K),… Int J Mol Sci 2023-09-01

...NF1 microdeletions involving the NF1 gene and its flanking regions. Microdeletions, which lead to more severe clinical m...