Detalhe da pesquisa
1.
Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome.
Hum Brain Mapp
; 45(1): e26553, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38224541
2.
Young adults with a 22q11.2 microdeletion and the cost of aging with complexity in a population-based context.
Genet Med
; 26(5): 101088, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38310401
3.
Rare tandem repeat expansions associate with genes involved in synaptic and neuronal signaling functions in schizophrenia.
Mol Psychiatry
; 28(1): 475-482, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36380236
4.
Rare coding variants as risk modifiers of the 22q11.2 deletion implicate postnatal cortical development in syndromic schizophrenia.
Mol Psychiatry
; 28(5): 2071-2080, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36869225
5.
Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation.
Prenat Diagn
; 2024 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38593251
6.
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
PLoS Genet
; 17(7): e1009679, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34324492
7.
Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
PLoS Genet
; 17(9): e1009809, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34547032
8.
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
Am J Hum Genet
; 106(1): 26-40, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31870554
9.
Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.
Genet Med
; 25(3): 100344, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36729052
10.
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.
Genet Med
; 25(3): 100338, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36729053
11.
Genome-wide tandem repeat expansions contribute to schizophrenia risk.
Mol Psychiatry
; 27(9): 3692-3698, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35546631
12.
Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs.
Hum Brain Mapp
; 43(1): 300-328, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33615640
13.
Within-family influences on dimensional neurobehavioral traits in a high-risk genetic model.
Psychol Med
; 52(14): 3184-3192, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443009
14.
Neurodevelopmental functioning in probands and non-proband carriers of 22q11.2 microduplication.
Am J Med Genet A
; 188(10): 2999-3008, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35899837
15.
Sexual knowledge and behaviour in 22q11.2 deletion syndrome, a complex care condition.
J Appl Res Intellect Disabil
; 35(4): 966-975, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34291536
16.
Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.
Hum Mol Genet
; 28(22): 3724-3733, 2019 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31884517
17.
Approaches to studying the impact of 22q11.2 copy number variants.
Am J Hum Genet
; 110(7): 1216-1218, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37419092
18.
Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size.
Mol Psychiatry
; 25(8): 1822-1834, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29895892
19.
Cognitive behavioral therapy in 22q11.2 deletion syndrome: A case study of two young adults with an anxiety disorder.
J Intellect Disabil
; 25(4): 695-704, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32772800
20.
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.
Hum Mol Genet
; 27(7): 1150-1163, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29361080