Detalhe da pesquisa
1.
Impact of trametinib on the neuropsychological profile of NF1 patients.
J Neurooncol
; 167(3): 447-454, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38443693
2.
18F-Flurodeoxyglucose positron emission tomography with computed tomography (FDG PET/CT) findings in children with encephalitis and comparison to conventional imaging.
Eur J Nucl Med Mol Imaging
; 46(6): 1309-1324, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30863933
3.
A phase 2 study of trametinib for patients with pediatric glioma or plexiform neurofibroma with refractory tumor and activation of the MAPK/ERK pathway: TRAM-01.
BMC Cancer
; 19(1): 1250, 2019 Dec 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31881853
4.
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
Am J Hum Genet
; 97(5): 744-53, 2015 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26477546
5.
Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.
Neurogenetics
; 18(2): 97-103, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28058511
6.
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.
Am J Hum Genet
; 94(6): 891-7, 2014 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24814191
7.
A Phase II feasibility study of oral etoposide given concurrently with radiotherapy followed by dose intensive adjuvant chemotherapy for children with newly diagnosed high-risk medulloblastoma (protocol POG 9631): A report from the Children's Oncology Group.
Pediatr Blood Cancer
; 64(6)2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28000417
8.
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
Hum Mutat
; 36(1): 69-78, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25265257
9.
Derivation and validation of a clinical decision rule to identify young children with skull fracture following isolated head trauma.
CMAJ
; 187(16): 1202-1208, 2015 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26350911
10.
Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type.
Ophthalmology
; 121(1): 381-386, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24126030
11.
Surveillance imaging in children with malignant CNS tumors: low yield of spine MRI.
J Neurooncol
; 116(3): 617-23, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24401959
12.
Visual acuity of children treated with chemotherapy for optic pathway gliomas.
Pediatr Blood Cancer
; 61(2): 223-7, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23956233
13.
Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly.
J Med Genet
; 50(11): 740-4, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23687350
14.
Development of a semi-automatic segmentation technique based on mean magnetic resonance imaging intensity thresholding for volumetric quantification of plexiform neurofibromas.
Heliyon
; 10(1): e23445, 2024 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38173515
15.
Relapse patterns in pediatric embryonal central nervous system tumors.
J Neurooncol
; 115(2): 209-15, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23921420
16.
Effectiveness of pamidronate as treatment of symptomatic osteonecrosis occurring in children treated for acute lymphoblastic leukemia.
Pediatr Blood Cancer
; 60(5): 741-7, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23002054
17.
Four-film X-ray series is more sensitive than 2-film for diagnosis of skull fractures in children.
Pediatr Emerg Care
; 29(11): 1189-93, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24168880
18.
Brainstem angiocentric gliomas with MYB-QKI rearrangements.
Acta Neuropathol
; 134(4): 667-669, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28803398
19.
LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.
J Med Genet
; 48(3): 183-9, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21266382
20.
Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development.
JIMD Rep
; 63(1): 3-10, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35028265