Detalhe da pesquisa
1.
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
2.
Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study.
Mol Psychiatry
; 25(11): 2818-2831, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31358905
3.
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
4.
Adaptive functioning in children and adolescents with Trisomy X: An exploratory analysis.
Am J Med Genet C Semin Med Genet
; 184(2): 456-468, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32548885
5.
Neural and behavioral measures suggest that cognitive and affective functioning interactions mediate risk for psychosis-proneness symptoms in youth with chromosome 22q11.2 deletion syndrome.
Am J Med Genet A
; 182(7): 1615-1630, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32319730
6.
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
7.
Baseline connectome modular abnormalities in the childhood phase of a longitudinal study on individuals with chromosome 22q11.2 deletion syndrome.
Hum Brain Mapp
; 39(1): 232-248, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28990258
8.
Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome.
J Biol Chem
; 290(38): 23240-53, 2015 Sep 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-26221035
9.
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
10.
The hippocampi of children with chromosome 22q11.2 deletion syndrome have localized anterior alterations that predict severity of anxiety.
J Psychiatry Neurosci
; 41(3): 203-13, 2016 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26599134
11.
22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia.
Nat Rev Neurosci
; 11(6): 402-16, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20485365
12.
Altered structural brain connectome in young adult fragile X premutation carriers.
Hum Brain Mapp
; 35(9): 4518-30, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24578183
13.
Mapping the deletion endpoints in individuals with 22q11.2 deletion syndrome by droplet digital PCR.
BMC Med Genet
; 15: 106, 2014 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-25312060
14.
Brain enlargement is associated with regression in preschool-age boys with autism spectrum disorders.
Proc Natl Acad Sci U S A
; 108(50): 20195-200, 2011 Dec 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22123952
15.
White matter microstructural abnormalities in girls with chromosome 22q11.2 deletion syndrome, Fragile X or Turner syndrome as evidenced by diffusion tensor imaging.
Neuroimage
; 81: 441-454, 2013 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23602925
16.
Atypical developmental trajectory of functionally significant cortical areas in children with chromosome 22q11.2 deletion syndrome.
Hum Brain Mapp
; 33(1): 213-23, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21416559
17.
Prosaccade and Antisaccade Behavior in Fragile X-Associated Tremor/Ataxia Syndrome Progression.
Mov Disord Clin Pract
; 9(4): 473-478, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35586536
18.
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
Hum Mutat
; 32(11): 1278-89, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21796729
19.
Enhanced manual and oral motor reaction time in young adult female fragile X premutation carriers.
J Int Neuropsychol Soc
; 17(4): 746-50, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21554789
20.
Young adult female fragile X premutation carriers show age- and genetically-modulated cognitive impairments.
Brain Cogn
; 75(3): 255-60, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21295394