Detalhe da pesquisa
1.
Response assessment in paediatric intracranial ependymoma: recommendations from the Response Assessment in Pediatric Neuro-Oncology (RAPNO) working group.
Lancet Oncol
; 23(8): e393-e401, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35901835
2.
The role of artificial intelligence in paediatric neuroradiology.
Pediatr Radiol
; 52(11): 2159-2172, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35347371
3.
Appendiceal involvement in pediatric inflammatory multisystem syndrome temporally associated with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2): a diagnostic challenge in the coronavirus disease (COVID) era.
Pediatr Radiol
; 52(6): 1038-1047, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35394163
4.
The importance of genetic counseling and screening for people with pathogenic SMARCE1 variants: A family study.
Am J Med Genet A
; 185(2): 561-565, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33185983
5.
Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing.
Genet Med
; 22(1): 53-59, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273341
6.
Perceived fatigue in children and young adults with neurofibromatosis type 1.
J Paediatr Child Health
; 56(6): 878-883, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31916647
7.
Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF.
BMC Med Genet
; 19(1): 7, 2018 01 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29325523
8.
Ventricular metastatic dissemination of a paediatric craniopharyngioma: case report and literature review.
Br J Neurosurg
; 31(4): 474-477, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27310220
9.
Multiple synchronous sites of origin of vestibular schwannomas in neurofibromatosis Type 2.
J Med Genet
; 52(8): 557-62, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26104281
10.
Quantification of structural changes in the corpus callosumin children with profound hypoxic-ischaemic brain injury.
Pediatr Radiol
; 46(1): 73-81, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26403618
11.
Pediatric intracranial clear cell meningioma associated with a germline mutation of SMARCE1: a novel case.
Childs Nerv Syst
; 31(3): 441-7, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25249420
12.
Primary cerebral histiocytic sarcoma in childhood: a case report of protracted survival and review of the literature.
Childs Nerv Syst
; 31(12): 2363-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26174618
13.
Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.
Neuropediatrics
; 45(3): 175-82, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24407470
14.
Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes.
Dev Med Child Neurol
; 56(7): 612-26, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24372060
15.
Recognizable phenotypes associated with intracranial calcification.
Dev Med Child Neurol
; 55(1): 46-57, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23121296
16.
Can MRI biomarkers for hearing loss in enlarged vestibular aqueduct be measured reproducibly?
Br J Radiol
; 96(1147): 20220274, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37162001
17.
ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1.
EClinicalMedicine
; 56: 101818, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36684394
18.
Radiation treatment of benign tumors in NF2-related-schwannomatosis: A national study of 266 irradiated patients showing a significant increase in malignancy/malignant progression.
Neurooncol Adv
; 5(1): vdad025, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37051330
19.
Enlarged Vestibular Aqueduct: Disease Characterization and Exploration of Potential Prognostic Factors for Cochlear Implantation.
Otol Neurotol
; 43(5): e563-e570, 2022 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35261386
20.
Neuroanatomical correlates of working memory performance in Neurofibromatosis 1.
Cereb Cortex Commun
; 3(2): tgac021, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35673329