Detalhe da pesquisa
1.
Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne's Muscular Dystrophy.
N Engl J Med
; 389(13): 1203-1210, 2023 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37754285
2.
Non-vascular intracranial lesions in three children with PHACE association.
Pediatr Dermatol
; 41(2): 284-288, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37723596
3.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Acta Neuropathol
; 145(4): 479-496, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36799992
4.
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
Brain
; 145(8): 2704-2720, 2022 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35441233
5.
PD-L1 and PD-1 expression in pediatric central nervous system germ cell tumors.
Mod Pathol
; 35(12): 1770-1774, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36057740
6.
Intracranial venous malformation masquerading as a meningioma in PI3KCA-related overgrowth spectrum disorder.
Am J Med Genet A
; 188(3): 907-910, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34854542
7.
Spatiotemporal changes in diffusivity and anisotropy in fetal brain tractography.
Hum Brain Mapp
; 42(17): 5771-5784, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34487404
8.
Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile.
Mod Pathol
; 34(2): 264-279, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33051600
9.
Loss of histone H3 trimethylation on lysine 27 and nuclear expression of transducin-like enhancer 1 in primary intracranial sarcoma, DICER1-mutant.
Histopathology
; 78(2): 265-275, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32692439
10.
Mice Expressing Myc in Neural Precursors Develop Choroid Plexus and Ciliary Body Tumors.
Am J Pathol
; 188(6): 1334-1344, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29545198
11.
Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.
Ann Neurol
; 83(6): 1133-1146, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29679388
12.
Increasing value of autopsies in patients with brain tumors in the molecular era.
J Neurooncol
; 145(2): 349-355, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31571114
13.
PHOX2B is a reliable immunomarker in distinguishing peripheral neuroblastic tumours from CNS embryonal tumours.
Histopathology
; 73(3): 483-491, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29758594
14.
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
J Hum Genet
; 62(2): 243-252, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27708273
15.
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Brain
; 139(Pt 3): 765-81, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26917586
16.
Spatially heterogeneous choroid plexus transcriptomes encode positional identity and contribute to regional CSF production.
J Neurosci
; 35(12): 4903-16, 2015 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-25810521
17.
Medulloblastoma in the setting of megalencephaly polymicrogyria polydactyly hydrocephalus.
Am J Med Genet A
; 185(5): 1614-1618, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33634562
18.
Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology.
Neurol Genet
; 10(1): e200117, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38149038
19.
Activation of paternally expressed genes and perinatal death caused by deletion of the Gtl2 gene.
Development
; 137(16): 2643-52, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20610486
20.
Two siblings with GAPO syndrome: Ophthalmic presentation and histopathologic findings.
Ophthalmic Genet
; 44(6): 598-601, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36748830