Detalhe da pesquisa
1.
Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review.
Int J Mol Sci
; 23(16)2022 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36012218
2.
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.
Clin Genet
; 100(5): 563-572, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34346503
3.
Enhancing cyst-like lesions of the white matter in tuberous sclerosis complex: a novel neuroradiological finding.
Neuroradiology
; 63(6): 971-974, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33481070
4.
Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome.
Neurol Sci
; 42(2): 655-663, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32651859
5.
Temporal lobe malformations, focal epilepsy, and FGFR3 mutations: a non-causal association?
Neurol Sci
; 42(5): 2063-2067, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33389251
6.
Olfactory bulb enlargement in neurofibromatosis type 1: report of a novel finding.
Childs Nerv Syst
; 37(9): 2927-2930, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33566141
7.
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report.
BMC Neurol
; 20(1): 327, 2020 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32873259
8.
Epilepsy in NF1: a systematic review of the literature.
Childs Nerv Syst
; 36(10): 2333-2350, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32613422
9.
Effects of Eltrombopag on In Vitro Macrophage Polarization in Pediatric Immune Thrombocytopenia.
Int J Mol Sci
; 22(1)2020 Dec 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-33374151
10.
Electroencephalographic Abnormalities in Autism Spectrum Disorder: Characteristics and Therapeutic Implications.
Medicina (Kaunas)
; 56(9)2020 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32825169
11.
High-functioning autism spectrum disorder with fluent speech and late-onset epilepsy: an unusual presentation of Inv-Dup (15) syndrome.
Neurocase
; 25(1-2): 62-65, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30991884
12.
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.
Am J Med Genet A
; 176(3): 722-726, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29283210
13.
Medullary unidentified bright objects in Neurofibromatosis type 1: a case series.
BMC Pediatr
; 18(1): 91, 2018 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-29490631
14.
Response letter to: Halo-like phenomenon in neurofibromatosis type 1: A potential new diagnostic criterion.
J Eur Acad Dermatol Venereol
; 2023 Dec 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38069513
15.
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience.
Am J Med Genet A
; 173(6): 1521-1530, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28422438
16.
Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report.
BMC Cancer
; 16: 365, 2016 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27291393
17.
Epilepsy surgery in neurofibromatosis type 1: an overlooked therapeutic approach.
Childs Nerv Syst
; 36(12): 2909-2910, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32734402
18.
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.
BMC Med Genet
; 15: 44, 2014 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-24767283
19.
Report on a child with neurofibromatosis type 2 and unilateral moyamoya: further evidence of cerebral vasculopathy in NF2.
Neurol Sci
; 40(7): 1475-1476, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30666475
20.
Epilepsy in Rett Syndrome: can seizures play an encephalopathic effect in this disorder?
Minerva Pediatr
; 71(4): 391-393, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30961341