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A novel NF1 mutation in a Chinese patient with giant café-au-lait macule in ne…

Tong(HX),Li(M),Zhang(Y),Zhu(J),Lu(WQ) Genet Mol Res 2012-08-29

...NF1 gene mutations in NF1. Its absence in the normal chromosomes suggests that it is responsible for the NF1 phenotype...

c-Fms signaling mediates neurofibromatosis Type-1 osteoclast gain-in-functions.

He(Y),Rhodes(SD),Chen(S),Wu(X),Yuan(J),Yang(… PLoS One 2012-00-00

...NF1) patients. NF1 (Nf1) haploinsufficient osteoclasts and osteoclast progenitors derived from both NF1 patients and Nf1...

NF1/X represses PDGF A-chain transcription by interacting with Sp1 and antagoni…

Rafty(LA),Santiago(FS),Khachigian(LM) EMBO J 2002-02-01

...NF1/X-binding site. Mutation in the DNA-binding domain of NF1/X abolished its repression of PDGF-A promoter. NF1/X antag...

Tumorigenic properties of neurofibromin-deficient Schwann cells in culture and …

Wu(M),Wallace(MR),Muir(D) J Neurosci Res 2005-11-01

...Nf1-/- Schwann cells isolated from knockout embryos were grafted into the sciatic nerves of Nf1+/- mice, corresponding t...

Biallelic somatic inactivation of the NF1 gene through chromosomal translocatio…

Storlazzi(CT),Von Steyern(FV),Domanski(HA),M… Int J Cancer 2005-12-20

...NF1. NF1 is caused by constitutional mutations in the NF1 gene, located in chromosome band 17q11. Whereas the involvemen...

Novel NF1 gene mutation in a Japanese patient with neurofibromatosis type 1 and…

Nemoto(H),Tate(G),Schirinzi(A),Suzuki(T),Sas… J Gastroenterol 2006-04-00

...NF1 gene have been reported in patients with neurofibromatosis type 1 (NF1); however, there have been no documented NF1 ...

Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a c…

Horan(MP),Cooper(DN),Upadhyaya(M) Hum Genet 2000-07-00

...NF1 gene inactivation in NF1-related tumours, the methylation status of the NF1 promoter region was determined by bisulp...

Neurofibromatosis type 1 (NF1) and associated tumors.

Rosenbaum(T),Wimmer(K) Klin Padiatr 2014-11-00

...NF1 but includes a broad spectrum of tumors which usually do not occur in NF1. The development of NF1-associated tumors ...

Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings …

Burkitt Wright(EM),Sach(E),Sharif(S),Quarrel… J Med Genet 2013-09-00

...NF1 were identified through the Manchester nationally commissioned service for complex NF1. Five families with spinal NF...

Genetic and cellular evidence of vascular inflammation in neurofibromin-deficie…

Lasater(EA),Li(F),Bessler(WK),Estes(ML),Vemu… J Clin Invest 2010-03-00

...NF1) results from mutations in the NF1 tumor suppressor gene, which encodes the protein neurofibromin. NF1 patients disp...

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