Detalhe da pesquisa
1.
Neurovascular complications in adults with Neurofibromatosis type 1: A national referral center experience.
Am J Med Genet A
; 188(10): 3009-3015, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36097643
2.
Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing.
Genet Med
; 21(7): 1525-1533, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30523344
3.
From process to progress-2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis.
Am J Med Genet A
; 179(6): 1098-1106, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30908866
4.
2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis.
Am J Med Genet A
; 176(5): 1258-1269, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29681099
5.
Cross-cultural adaptation and psychometric properties of the Brazilian Portuguese version of the Impact of Neurofibromatosis type 1 on Quality of Life (INF1-QoL) questionnaire.
Br J Dermatol
; 188(5): 689-690, 2023 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36787326
6.
Aneurysms in neurofibromatosis type 2: Evidence for vasculopathy?
Am J Med Genet A
; 173(6): 1562-1565, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28429859
7.
Clinical presentation and prognostic indicators in 100 adults and children with neurofibromatosis 1 associated non-optic pathway brain gliomas.
J Neurooncol
; 133(3): 609-614, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28593402
8.
Toxicity profile of bevacizumab in the UK Neurofibromatosis type 2 cohort.
J Neurooncol
; 131(1): 117-124, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27796735
9.
Evaluation of quality of life in adults with neurofibromatosis 1 (NF1) using the Impact of NF1 on Quality Of Life (INF1-QOL) questionnaire.
Health Qual Life Outcomes
; 15(1): 34, 2017 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-28193237
10.
Optic Pathway Gliomas in Neurofibromatosis Type 1: An Update: Surveillance, Treatment Indications, and Biomarkers of Vision.
J Neuroophthalmol
; 37 Suppl 1: S23-S32, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28806346
11.
Prevalence and clinical presentation of headache in a National Neurofibromatosis 1 Service and impact on quality of life.
Am J Med Genet A
; 167A(10): 2282-5, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26044068
12.
Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues.
Am J Med Genet A
; 167A(1): 1-10, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25393061
13.
Neurofibromatosis-related tumors: emerging biology and therapies.
Curr Opin Pediatr
; 27(1): 26-33, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25490687
14.
Association of sociodemographic and clinical factors with the quality of life of Brazilian individuals with Neurofibromatosis type 1: a cross-sectional study.
An Bras Dermatol
; 2024 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38493052
15.
Sleep disturbance as part of the neurofibromatosis type 1 phenotype in adults.
Am J Med Genet A
; 161A(6): 1319-22, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23636844
16.
ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1.
EClinicalMedicine
; 56: 101818, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36684394
17.
Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis.
Neurogenetics
; 13(2): 141-5, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22434358
18.
Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2.
Am J Med Genet A
; 158A(1): 24-41, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22140088
19.
Visual acuity in children with low grade gliomas of the visual pathway: implications for patient care and clinical research.
J Neurooncol
; 110(1): 1-7, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22843451
20.
ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis.
Eur J Hum Genet
; 30(7): 812-817, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35361920