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Integrative Genomic and Functional Analysis Reveals NF1 Loss as a Modifier of D…

He(S),Liu(C),Li(Z),Liao(T),Wang(Q) Hum Mutat None

...NF1 loss in ovarian cancer. Somatic mutation data from the TCGA ovarian cancer cohort were analyzed to define NF1-associ...

Cohort profile: life with neurofibromatosis 1 - the Danish NF1 cohort.

Doser(K),Hove(H),Østergaard(JR),Bidstrup(PE)… BMJ Open 2022-00-20

...NF1 and 38 adult population comparisons. To date, six studies have been published. Individuals with NF1 had an increased...

Sensitization of Ion Channels Contributes to Central and Peripheral Dysfunction…

Moutal(A),Dustrude(ET),Khanna(R) Mol Neurobiol 2017-00-00

...Nf1 gene, Nf1 -/- chimeric mice, Nf1 exon-specific knockout mice, and mice with tissue-specific inactivation of Nf1 have...

Cancer incidence and the risk for multiple primary cancers in neurofibromatosis…

Kallionpää(RA),Peltonen(S),Uusitalo(E),Leppä… J Natl Cancer Inst 2026-08-04

...NF1. The previously established Finnish NF1 cohort was extended to include 1,811 individuals with verified NF1 and follo...

Thinking beyond the tumor cell: Nf1 haploinsufficiency in the tumor environment.

McLaughlin(ME),Jacks(T) Cancer Cell 2002-06-00

...Nf1 gene in Schwann cells combined with Nf1 heterozygosity in the tumor environment promotes neurofibroma formation in m...

From the archives of the AFIP: abdominal neoplasms in patients with neurofibrom…

Levy(AD),Patel(N),Dow(N),Abbott(RM),Miettine… Radiographics 2005-00-00

...NF1) is one of the most common genetic disorders. NF1 is a complex disease resulting from a spectrum of mutations that m...

Clinical and genetic significance of unilateral Lisch nodules.

Ceuterick(SD),Van Den Ende(JJ),Smets(RM) Bull Soc Belge Ophtalmol 2005-00-00

...NF1 was the most probable diagnosis and in one case isolated Lisch nodules were observed. Of the 35 NF1 patients 28 ulti...

The detection of contiguous gene deletions at the neurofibromatosis 1 locus wit…

Leppig(KA),Viskochil(D),Neil(S),Rubenstein(A… Cytogenet Cell Genet 1996-00-00

...NF1 patients. To facilitate the identification of patients with large NF1 deletions, we have isolated clones carrying la...

Ultrastructural synaptic changes associated with neurofibromatosis type 1: a qu…

Armstrong(BC),Le Boutillier(JC),Petit(TL) Synapse 2012-03-00

...Nf1(+/-) ) to conduct a quantitative analysis of ultrastructural changes associated with the NF1 disorder. Using both se...

Is double inactivation of the Nf1 gene responsible for the development of conge…

Lee(SM),Choi(IH),Lee(DY),Lee(HR),Park(MS),Yo… J Orthop Res 2012-10-00

...NF1 using four genetic markers that span the Nf1 gene. Based on the assumption that a single cell with double inactivati...

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