Literature Search

Mudau(MM),Dillon(B),Smal(C),Feben(C),Honey(E… Front Genet 2024-00-00

...NF1 patients were screened using a next-generation sequencing (NGS) assay targeting NF1 exons and intron/exon boundaries...

Nix(JS),Blakeley(J),Rodriguez(FJ) Acta Neuropathol 2020-00-00

...NF1) gene and subsequently, abnormal function of the protein product, neurofibromin. Patients with NF1 are at increased ...

Ireland(A),Riddell(A),Prentice(A),Eelloo(J),… Bone 2022-01-00

...NF1) is associated with lower bone mass and increased risk of fracture. Children with NF1 display faltering growth from ...

Hicks(SR),Cozart(AK),Bellus(GA),Schneider(KW) Cancer Prev Res (Phila) 2021-00-00

...NF1) have a detectable pathogenic variant in the NF1 gene, other conditions have phenotypic features overlapping with NF...

Wu(BL),Schneider(GH),Korf(BR) Am J Med Genet 1997-03-03

...NF1) due to a deletion of the entire NF1 gene detected by fluorescence in situ hybridization (FISH). As is the case for ...

Perini(P),Gallo(P) J Neurol Neurosurg Psychiatry 2001-11-00

...NF1) is a very rare event. Seven patients with multiple sclerosis and NF1 are described in the literature, and all were ...

Fountain(JW),Wallace(MR),Brereton(AM),O'Conn… Am J Hum Genet 1989-01-00

...NF1) locus has been linked to chromosome 17, and recent linkage analyses place the gene on the proximal long arm. NF1 pr...

Lázaro(C),Ravella(A),Gaona(A),Volpini(V),Est… N Engl J Med 1994-11-24

...NF1 markers. Analysis with probes from this region of the NF1 gene showed a 12-kb deletion of the NF1 gene, involving ex...

Burchill(SA),Berry(PA),Lewis(IJ) J Neurol Sci 1994-11-00

...NF1-GRD. In this study we have identified type I GAP120 and two NF1-GRD mRNAs in three neuroblastoma cell lines, IMR-32,...

Pardej(SK),Glad(DM),Casnar(CL),Janke(KM),Kle… J Pediatr Psychol 2021-10-19

...NF1 and (2) whether there are particular patterns of motor development in this population. Participants with NF1 and a c...