Detalhe da pesquisa
1.
Predictors of Patient Return to a Tertiary Neurofibromatosis Subspecialty Clinic.
J Pediatr
; 248: 94-99.e1, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35561805
2.
Dose-dependent seizure control with MEK inhibitor therapy for progressive glioma in a child with neurofibromatosis type 1.
Childs Nerv Syst
; 38(11): 2245-2249, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35648241
3.
Sorting nexin 27 (SNX27) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalities.
Clin Genet
; 97(3): 437-446, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31721175
4.
Adaptive functioning in children with neurofibromatosis type 1: relationship to cognition, behavior, and magnetic resonance imaging.
Dev Med Child Neurol
; 61(8): 972-978, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30659594
5.
Stroke Mimics Are Not Benign in Immunocompromised Children.
Stroke
; 53(10): e442-e443, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35862209
6.
Neurodevelopmental disorders in children with neurofibromatosis type 1.
Dev Med Child Neurol
; 59(11): 1112-1116, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28845518
7.
Autism in neurofibromatosis type 1: misuse of covariance to dismiss autistic trait burden.
Dev Med Child Neurol
; 63(2): 233-234, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32815557
8.
Predictive Modeling for Clinical Features Associated With Neurofibromatosis Type 1.
Neurol Clin Pract
; 11(6): 497-505, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34987881
9.
Seizures in Fragile X Syndrome: Associations and Longitudinal Analysis of a Large Clinic-Based Cohort.
Front Pediatr
; 9: 736255, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35036394
10.
Patient-derived iPSC-cerebral organoid modeling of the 17q11.2 microdeletion syndrome establishes CRLF3 as a critical regulator of neurogenesis.
Cell Rep
; 36(1): 109315, 2021 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34233200
11.
SARS-CoV-2 screening testing in schools for children with intellectual and developmental disabilities.
J Neurodev Disord
; 13(1): 31, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34465306
12.
SARS-CoV-2 Screening Testing in Schools for Children with Intellectual and Developmental Disabilities.
Res Sq
; 2021 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34312616
13.
Nonoptic pathway tumors in children with neurofibromatosis type 1.
Neurology
; 95(8): e1052-e1059, 2020 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32300062
14.
Increased prevalence of brain tumors classified as T2 hyperintensities in neurofibromatosis 1.
Neurol Clin Pract
; 8(4): 283-291, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30140579
15.
Children with 5'-end NF1 gene mutations are more likely to have glioma.
Neurol Genet
; 3(5): e192, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28955729
16.
A multi-institutional study of brainstem gliomas in children with neurofibromatosis type 1.
Neurology
; 88(16): 1584-1589, 2017 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28330960
17.
Macrocephaly Is Not a Predictor of Optic Pathway Glioma Development or Treatment in Neurofibromatosis Type 1.
J Child Neurol
; 31(14): 1540-1545, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27581847
18.
Familial Lipomas Without Classic Neurofibromatosis-1 Caused by a Missense Germline NF1 Mutation.
Neurol Genet
; 7(3): e582, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33884301
19.
Disease Burden and Symptom Structure of Autism in Neurofibromatosis Type 1: A Study of the International NF1-ASD Consortium Team (INFACT).
JAMA Psychiatry
; 73(12): 1276-1284, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27760236
20.
A genotype-phenotype correlation for quantitative autistic trait burden in neurofibromatosis 1.
Neurology
; 90(8): 377-379, 2018 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29367450