Detalhe da pesquisa
1.
Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion.
Acta Neuropathol;
147(1): 64, 2024 Mar 31.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38556574
2.
Review and gap analysis: molecular pathways leading to fetal alcohol spectrum disorders.
Mol Psychiatry;
24(1): 10-17, 2019 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29892052
3.
Extracellular Vesicles in CNS Developmental Disorders.
Int J Mol Sci;
21(24)2020 Dec 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33322331
4.
Development of consensus-based guidelines for managing communication of individuals with Rett syndrome.
Augment Altern Commun;
36(2): 71-81, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32720526
5.
MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases.
Hum Mutat;
39(7): 914-924, 2018 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29704307
6.
Non-pharmacological management of problematic sleeping in children with developmental disabilities.
Dev Med Child Neurol;
57(2): 120-36, 2015 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25370592
7.
Reflecting on the efficacy of cognitive mapping for decision-making in intellectual disability care: a case study.
Int J Health Plann Manage;
30(2): 127-44, 2015.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23950055
8.
Serotonergic, noradrenergic and dopaminergic markers are related to cognitive function in adults with 22q11 deletion syndrome.
Int J Neuropsychopharmacol;
17(8): 1159-65, 2014 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24713114
9.
End-of-life decisions for people with intellectual disabilities, an interview study with patient representatives.
Palliat Med;
27(8): 765-71, 2013 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23295812
10.
Exploring the development of existing sex education programmes for people with intellectual disabilities: an intervention mapping approach.
J Appl Res Intellect Disabil;
26(2): 157-66, 2013 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23280605
11.
Aging in Prader-Willi syndrome: twelve persons over the age of 50 years.
Am J Med Genet A;
158A(6): 1326-36, 2012 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22585395
12.
Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice.
Am J Med Genet A;
158A(2): 340-50, 2012 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22190343
13.
The nominal group technique as an evaluation tool for solution-focused coaching.
J Appl Res Intellect Disabil;
25(6): 588-93, 2012 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23055292
14.
Physical health problems in adults with Prader-Willi syndrome.
Am J Med Genet A;
155A(9): 2112-24, 2011 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21834028
15.
The role of Extracellular Vesicles during CNS development.
Prog Neurobiol;
205: 102124, 2021 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34314775
16.
A resource to explore the discovery of rare diseases and their causative genes.
Sci Data;
8(1): 124, 2021 05 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33947870
17.
Food-Related Brain Activation Measured by fMRI in Adults with Prader-Willi Syndrome.
J Clin Med;
10(21)2021 Oct 31.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34768651
18.
A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration.
Sci Data;
8(1): 10, 2021 01 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33452270
19.
Loss of response to melatonin treatment is associated with slow melatonin metabolism.
J Intellect Disabil Res;
54(6): 547-55, 2010 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20576063
20.
[Formula: see text] Measuring visual matching and short-term recognition memory with the CANTAB® Delayed Matching to Sample task in schoolchildren: Effects of demographic influences, multiple outcome measures and regression-based normative data.
Child Neuropsychol;
26(2): 189-218, 2020 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31328631