Detalhe da pesquisa
1.
Genotype-phenotype correlation in neurofibromatosis type-1: NF1 whole gene deletions lead to high tumor-burden and increased tumor-growth.
PLoS Genet
; 17(5): e1009517, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33951044
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.
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
4.
Assessment of small fiber neuropathy in patients carrying the non-classical Fabry variant p.D313Y.
Muscle Nerve
; 63(5): 745-750, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33543778
5.
Null phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical NF1 deletion due to mosaicism.
Hum Mutat
; 41(7): 1226-1231, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32248581
6.
Upregulated immuno-modulator PD-L1 in malignant peripheral nerve sheath tumors provides a potential biomarker and a therapeutic target.
Cancer Immunol Immunother
; 69(7): 1307-1313, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32193699
7.
Correction: Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study.
Genet Med
; 22(1): 242, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31591510
8.
Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study.
Genet Med
; 22(2): 398-406, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31495828
9.
Response to trametinib treatment in progressive pediatric low-grade glioma patients.
J Neurooncol
; 149(3): 499-510, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33026636
10.
Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation.
J Med Genet
; 56(4): 209-219, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30530636
11.
Managing NF2-associated vestibular schwannomas in children and young adults: review of an institutional series regarding effects of surgery and bevacizumab on growth rates, tumor volume, and hearing quality.
Childs Nerv Syst
; 36(10): 2471-2480, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32548671
12.
Clinical characterization of children and adolescents with NF1 microdeletions.
Childs Nerv Syst
; 36(10): 2297-2310, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32533297
13.
Role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1 syndrome.
Childs Nerv Syst
; 36(10): 2279-2284, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32514759
14.
Presenting symptoms in children with neurofibromatosis type 2.
Childs Nerv Syst
; 36(10): 2463-2470, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32537663
15.
Surgical management of peripheral nerve sheath tumours in children, with special consideration of neurofibromatoses.
Childs Nerv Syst
; 36(10): 2433-2442, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32506255
16.
Combined Targeting of AKT and mTOR Inhibits Proliferation of Human NF1-Associated Malignant Peripheral Nerve Sheath Tumour Cells In Vitro but not in a Xenograft Mouse Model In Vivo.
Int J Mol Sci
; 21(4)2020 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32102484
17.
C-Fiber Loss as a Possible Cause of Neuropathic Pain in Schwannomatosis.
Int J Mol Sci
; 21(10)2020 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32443592
18.
Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions.
Hum Genet
; 138(1): 73-81, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30478644
19.
Dorsal root ganglia volume differentiates schwannomatosis and neurofibromatosis 2.
Ann Neurol
; 83(4): 854-857, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29469988
20.
Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions.
Hum Mol Genet
; 25(3): 484-96, 2016 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26614388