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.
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
3.
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
4.
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.
Mol Psychiatry
; 26(8): 4496-4510, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32015465
5.
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
6.
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
7.
A genetic model for multimorbidity in young adults.
Genet Med
; 22(1): 132-141, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31363180
8.
All-cause mortality and survival in adults with 22q11.2 deletion syndrome.
Genet Med
; 21(10): 2328-2335, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30948858
9.
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.
Am J Hum Genet
; 96(5): 753-64, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25892112
10.
Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome.
Am J Med Genet A
; 176(4): 936-944, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29575622
11.
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.
Am J Med Genet A
; 176(10): 2172-2181, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30289625
12.
Neuroimaging and clinical features in adults with a 22q11.2 deletion at risk of Parkinson's disease.
Brain
; 140(5): 1371-1383, 2017 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28369257
13.
Obesity in adults with 22q11.2 deletion syndrome.
Genet Med
; 19(2): 204-208, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27537705
14.
22q11.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy.
Epilepsia
; 58(6): 1095-1101, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28448680
15.
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.
Hum Genet
; 135(3): 273-85, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26742502
16.
Fetal growth and gestational factors as predictors of schizophrenia in 22q11.2 deletion syndrome.
Genet Med
; 18(4): 350-5, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26087175
17.
Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.
Hum Mol Genet
; 22(22): 4485-501, 2013 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23813976
18.
Practical guidelines for managing adults with 22q11.2 deletion syndrome.
Genet Med
; 17(8): 599-609, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25569435
19.
Response to clozapine in a clinically identifiable subtype of schizophrenia.
Br J Psychiatry
; 206(6): 484-91, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25745132
20.
Reproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome.
J Genet Couns
; 24(5): 810-21, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25579115