Detalhe da pesquisa
1.
Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individuals.
Clin Genet
; 104(2): 198-209, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37198960
2.
Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizures.
Clin Genet
; 101(1): 87-100, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34664257
3.
Sleep problems in fragile X syndrome: Cross-sectional analysis of a large clinic-based cohort.
Am J Med Genet A
; 188(4): 1029-1039, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34889523
4.
The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome.
Am J Med Genet A
; 188(3): 858-866, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148024
5.
Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure.
Dev Med Child Neurol
; 63(11): 1308-1315, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34028805
6.
Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder.
Brain
; 142(2): 239-248, 2019 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30649225
7.
Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.
Clin Genet
; 95(5): 575-581, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30788845
8.
CDKL5 deficiency disorder: At the intersection between Rett syndrome and developmental epileptic encephalopathies.
Dev Med Child Neurol
; 66(4): 410-411, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37881024
9.
The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.
Am J Med Genet B Neuropsychiatr Genet
; 180(1): 55-67, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30536762
10.
Longitudinal course of epilepsy in Rett syndrome and related disorders.
Brain
; 140(2): 306-318, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28007990
11.
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.
Genet Med
; 19(1): 13-19, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27171548
12.
Brain cell signaling abnormalities are detected in blood in a murine model of Fragile X syndrome and corrected by Sigma-1 receptor agonist Blarcamesine.
Am J Med Genet A
; 188(8): 2497-2500, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35661397
13.
A Novel Way to Measure and Predict Development: A Heuristic Approach to Facilitate the Early Detection of Neurodevelopmental Disorders.
Curr Neurol Neurosci Rep
; 17(5): 43, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28390033
14.
Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome.
Proc Natl Acad Sci U S A
; 111(12): 4596-601, 2014 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-24623853
15.
Parents' initial concerns about the development of their children later diagnosed with fragile X syndrome.
J Intellect Dev Disabil
; 42(2): 114-122, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29875616
16.
The Pediatric Imaging, Neurocognition, and Genetics (PING) Data Repository.
Neuroimage
; 124(Pt B): 1149-1154, 2016 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25937488
17.
Visual evoked potentials detect cortical processing deficits in Rett syndrome.
Ann Neurol
; 78(5): 775-86, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26332183
18.
Neurogenetics in Child Neurology: Redefining a Discipline in the Twenty-first Century.
Curr Neurol Neurosci Rep
; 16(12): 103, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27815692
19.
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
Am J Med Genet A
; 167A(9): 2017-25, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25914188
20.
Long QT interval in Rett syndrome: expanding the knowledge of a poorly understood phenomenon.
Dev Med Child Neurol
; 62(7): 775, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31985047