Detalhe da pesquisa
1.
Expression analysis of NF1-mutated alleles in a rare compound heterozygous spinal NF1 patient by digital PCR.
Ann Hum Genet
; 88(3): 183-193, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38018226
2.
Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.
Hum Genet
; 143(6): 775-795, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38874808
3.
Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene.
Neurogenetics
; 24(3): 181-188, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37145209
4.
Changes of RAS Pathway Phosphorylation in Lymphoblastoid Cell Lines from Noonan Syndrome Patients Carrying Hypomorphic Variants in Two NS Genes.
Int J Mol Sci
; 24(4)2023 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36835447
5.
Characterization of 22q12 Microdeletions Causing Position Effect in Rare NF2 Patients with Complex Phenotypes.
Int J Mol Sci
; 23(17)2022 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36077416
6.
Olfactory receptor genes and chromosome 11 structural aberrations: Players or spectators?
HGG Adv
; 5(2): 100261, 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38160254
7.
New insights into the molecular basis of spinal neurofibromatosis type 1.
Eur J Hum Genet
; 31(8): 931-938, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37217626
8.
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.
Cancers (Basel)
; 15(1)2022 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36612057
9.
Non-Coding RNA and Tumor Development in Neurofibromatosis Type 1: ANRIL Rs2151280 Is Associated with Optic Glioma Development and a Mild Phenotype in Neurofibromatosis Type 1 Patients.
Genes (Basel)
; 10(11)2019 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31694342