Detalhe da pesquisa
1.
COVID-19 in people with neurofibromatosis 1, neurofibromatosis 2, or schwannomatosis.
Genet Med
; 25(2): 100324, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36565307
2.
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Genet Med
; 24(9): 1967-1977, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35674741
3.
Management and surgical outcomes of dystrophic scoliosis in neurofibromatosis type 1: a systematic review.
Neurosurg Focus
; 52(5): E7, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35535821
4.
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
Genet Med
; 23(8): 1506-1513, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34012067
5.
The Use of MEK Inhibitors in Neurofibromatosis Type 1-Associated Tumors and Management of Toxicities.
Oncologist
; 25(7): e1109-e1116, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32272491
6.
Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 20(7): 671-682, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30006586
7.
Response to Hannah-Shmouni and Stratakis.
Genet Med
; 21(5): 1256, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30283095
8.
Identifying Lesions of the Corpus Callosum in Patients With Neurofibromatosis Type 1.
Pediatr Neurol
; 156: 66-71, 2024 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38733856
9.
Endoglin, a Novel Biomarker and Therapeutical Target to Prevent Malignant Peripheral Nerve Sheath Tumor Growth and Metastasis.
Clin Cancer Res
; 29(18): 3744-3758, 2023 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37432984
10.
Awareness and agreement with neurofibromatosis care guidelines among U.S. neurofibromatosis specialists.
Orphanet J Rare Dis
; 17(1): 44, 2022 02 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35144646
11.
Management of neurofibromatosis type 1-associated plexiform neurofibromas.
Neuro Oncol
; 24(11): 1827-1844, 2022 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35657359
12.
MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensus.
Neuro Oncol
; 24(11): 1845-1856, 2022 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35788692
13.
Orthopaedic aspects of neurofibromatosis: update.
Curr Opin Pediatr
; 23(1): 46-52, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21150444
14.
Reliability of Handheld Dynamometry to Measure Focal Muscle Weakness in Neurofibromatosis Types 1 and 2.
Neurology
; 97(7 Suppl 1): S99-S110, 2021 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34230196
15.
The MEK inhibitor selumetinib reduces spinal neurofibroma burden in patients with NF1 and plexiform neurofibromas.
Neurooncol Adv
; 2(1): vdaa095, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32939452
16.
Slowing late infantile Batten disease by direct brain parenchymal administration of a rh.10 adeno-associated virus expressing CLN2.
Sci Transl Med
; 12(572)2020 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33268510
17.
Neurofibromatosis type 1 and associated malignancies.
Curr Neurol Neurosci Rep
; 9(3): 247-53, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19348714
18.
Comparison of hybrid 18F-fluorodeoxyglucose positron emission tomography/magnetic resonance imaging and positron emission tomography/computed tomography for evaluation of peripheral nerve sheath tumors in patients with neurofibromatosis type 1.
World J Nucl Med
; 17(4): 241-248, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30505221
19.
Accuracy of Reported Community Diagnosis of Autism Spectrum Disorder.
J Psychopathol Behav Assess
; 40(3): 367-375, 2018 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30270970
20.
Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study.
Lancet Child Adolesc Health
; 2(8): 582-590, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30119717