Detalhe da pesquisa
1.
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
J Med Genet
; 60(2): 163-173, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35256403
2.
Evaluation of Adult and Pediatric Chiari Type 1 Malformation Patients: Do Consensus Documents Fit Everyday Practice?
Acta Neurochir Suppl
; 135: 147-155, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38153463
3.
Chiari Malformation Type 1 and Syringomyelia: Why Do Patients Claim for International Guidelines? Commentary on the 2021 Chiari and Syringomyelia Consensus Document.
Acta Neurochir Suppl
; 135: 139-145, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38153462
4.
Increase of Circulating Endothelial Progenitor Cells and Released Angiogenic Factors in Children with Moyamoya Arteriopathy.
Int J Mol Sci
; 24(2)2023 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36674749
5.
DNA methylation episignature in Gabriele-de Vries syndrome.
Genet Med
; 24(4): 905-914, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35027293
6.
Diagnosis and treatment of Chiari malformation type 1 in children: the International Consensus Document.
Neurol Sci
; 43(2): 1311-1326, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34097175
7.
Diagnosis and treatment of Chiari malformation and syringomyelia in adults: international consensus document.
Neurol Sci
; 43(2): 1327-1342, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34129128
8.
The management of Chiari malformation type 1 and syringomyelia in children: a review of the literature.
Neurol Sci
; 42(12): 4965-4995, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34591209
9.
The Lipid Asset Is Unbalanced in Peripheral Nerve Sheath Tumors.
Int J Mol Sci
; 23(1)2021 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35008487
10.
Plasma Lipid Profiling Contributes to Untangle the Complexity of Moyamoya Arteriopathy.
Int J Mol Sci
; 22(24)2021 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34948203
11.
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Hum Mutat
; 41(4): 837-849, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31898846
12.
Vascular Remodeling in Moyamoya Angiopathy: From Peripheral Blood Mononuclear Cells to Endothelial Cells.
Int J Mol Sci
; 21(16)2020 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32796702
13.
Neurological malignancies in neurofibromatosis type 1.
Curr Opin Oncol
; 31(6): 554-561, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31436563
14.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(3): 764-765, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30275510
15.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(4): 867-876, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30190611
16.
GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease-study protocol and preliminary results.
Neurol Sci
; 40(3): 561-570, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30604336
17.
Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency.
Metab Brain Dis
; 34(6): 1565-1575, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31332729
18.
Chiari 1 malformation and untreated sagittal synostosis: a new subset of complex Chiari?
Childs Nerv Syst
; 35(10): 1741-1753, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31327038
19.
Chiari I malformation in defined genetic syndromes in children: are there common pathways?
Childs Nerv Syst
; 35(10): 1727-1739, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31363831
20.
Fluorescein-guided resection of plexiform neurofibromas: how I do it.
Acta Neurochir (Wien)
; 161(10): 2141-2145, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31435825