Detalhe da pesquisa
1.
Electroencephalographic Correlates of Clinical Severity in the Natural history study of RTT and Related Disorders.
Ann Neurol
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38721759
2.
Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing.
Am J Med Genet A
; : e63725, 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38775384
3.
Parental age effects and Rett syndrome.
Am J Med Genet A
; 194(2): 160-173, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37768187
4.
Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.
Hum Mutat
; 43(8): 1097-1113, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34837432
5.
Anthropometric Measures Correspond with Functional Motor Outcomes in Females with Rett Syndrome.
J Pediatr
; 244: 169-177.e3, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35063470
6.
Multisite Study of Evoked Potentials in Rett Syndrome.
Ann Neurol
; 89(4): 790-802, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33480039
7.
Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study.
Ann Neurol
; 88(2): 396-406, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32472944
8.
Phenotypic features in MECP2 duplication syndrome: Effects of age.
Am J Med Genet A
; 185(2): 362-369, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33170557
9.
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
10.
Biliary Tract Disease in Girls and Young Women With Rett Syndrome.
J Pediatr Gastroenterol Nutr
; 68(6): 799-805, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30664568
11.
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
12.
Longitudinal course of epilepsy in Rett syndrome and related disorders.
Brain
; 140(2): 306-318, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28007990
13.
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
14.
Progress in Rett Syndrome: from discovery to clinical trials.
Wien Med Wochenschr
; 166(11-12): 325-32, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27491553
15.
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.
J Med Genet
; 51(3): 152-8, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24399845
16.
Gastrointestinal dysmotility in Rett syndrome.
J Pediatr Gastroenterol Nutr
; 58(2): 237-44, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24121144
17.
Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome.
Genes (Basel)
; 15(5)2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38790223
18.
Psychometric Assessment of the Rett Syndrome Caregiver Assessment of Symptom Severity (RCASS).
J Autism Dev Disord
; 2024 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38438817
19.
Trofinetide Treatment Demonstrates a Benefit Over Placebo for the Ability to Communicate in Rett Syndrome.
Pediatr Neurol
; 152: 63-72, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38232652
20.
Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.
Am J Med Genet A
; 161A(7): 1638-46, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23696494