Detalhe da pesquisa
1.
Epigenomic, genomic, and transcriptomic landscape of schwannomatosis.
Acta Neuropathol
; 141(1): 101-116, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33025139
2.
A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome.
Dermatol Online J
; 26(8)2020 Aug 15.
Artigo
Inglês
| MEDLINE | ID: mdl-32941720
3.
Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma.
J Neurooncol
; 137(1): 33-38, 2018 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-29230670
4.
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.
Childs Nerv Syst
; 33(6): 933-940, 2017 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-28365909
5.
Correction to: Epigenomic, genomic, and transcriptomic landscape of schwannomatosis.
Acta Neuropathol
; 141(1): 117, 2021 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-33112994
6.
Novel neurofibromatosis type 2 mutation presenting with status epilepticus.
Epileptic Disord
; 16(1): 132-7, 2014 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-24667735
7.
High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene.
BMC Cancer
; 11: 305, 2011 Jul 21.
Artigo
Inglês
| MEDLINE | ID: mdl-21777424
8.
Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genes.
Fam Cancer
; 20(3): 195-199, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33210232
9.
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation.
Neurogenetics
; 11(1): 73-80, 2010 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-19582488
10.
Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas.
Hum Mutat
; 29(2): 227-31, 2008 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-18072270
11.
High-resolution melting analysis for rapid detection of KRAS, BRAF, and PIK3CA gene mutations in colorectal cancer.
Am J Clin Pathol
; 130(2): 247-53, 2008 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-18628094
12.
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis.
Genet Test
; 12(2): 311-8, 2008 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-18554169
13.
Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection.
J Mol Diagn
; 20(1): 87-94, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29061375
14.
The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy.
Melanoma Res
; 17(6): 387-92, 2007 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-17992122
15.
A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria.
JIMD Rep
; 30: 45-52, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-26960557
16.
Detection of rearrangements in the NF2 gene using semi-quantitative multiplex fluorescent PCR.
Genet Test
; 9(1): 14-9, 2005.
Artigo
Inglês
| MEDLINE | ID: mdl-15857181
17.
Broadening the spectrum of SMARCB1-associated malignant tumors: a case of uterine leiomyosarcoma in a patient with schwannomatosis.
Hum Pathol
; 46(8): 1226-31, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-26001331
18.
Expanding the mutational spectrum of LZTR1 in schwannomatosis.
Eur J Hum Genet
; 23(7): 963-8, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-25335493
19.
A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene.
PLoS One
; 10(6): e0129099, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26066488
20.
Susceptibility to refractory ulcerative colitis is associated with polymorphism in the hMLH1 mismatch repair gene.
Inflamm Bowel Dis
; 10(6): 705-8, 2004 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-15626886