Detalhe da pesquisa
1.
Dgcr8 functions in the secondary heart field for outflow tract and right ventricle development in mammals.
Dev Biol
; 506: 72-84, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38110169
2.
Tbx2 and Tbx3 regulate cell fate progression of the otic vesicle for inner ear development.
Dev Biol
; 494: 71-84, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36521641
3.
Crk and Crkl have shared functions in neural crest cells for cardiac outflow tract septation and vascular smooth muscle differentiation.
Hum Mol Genet
; 31(8): 1197-1215, 2022 04 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34686881
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.
Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression.
Clin Genet
; 103(1): 109-113, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36075864
6.
The 22q11 low copy repeats are characterized by unprecedented size and structural variability.
Genome Res
; 29(9): 1389-1401, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31481461
7.
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
8.
Tbx1 and Foxi3 genetically interact in the pharyngeal pouch endoderm in a mouse model for 22q11.2 deletion syndrome.
PLoS Genet
; 15(8): e1008301, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31412026
9.
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
10.
Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome.
Hum Mol Genet
; 27(11): 1847-1857, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29509905
11.
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
12.
Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
Am J Hum Genet
; 101(4): 616-622, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28965848
13.
Integrated rare variant-based risk gene prioritization in disease case-control sequencing studies.
PLoS Genet
; 13(12): e1007142, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29281626
14.
Reduced dosage of ß-catenin provides significant rescue of cardiac outflow tract anomalies in a Tbx1 conditional null mouse model of 22q11.2 deletion syndrome.
PLoS Genet
; 13(3): e1006687, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28346476
15.
NOTCH maintains developmental cardiac gene network through WNT5A.
J Mol Cell Cardiol
; 125: 98-105, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30347193
16.
Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.
Hum Mol Genet
; 25(17): 3754-3767, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27436579
17.
Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome.
Am J Hum Genet
; 97(6): 869-77, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26608785
18.
Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.
Am J Hum Genet
; 96(2): 235-44, 2015 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25658046
19.
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
20.
Molecular genetics of 22q11.2 deletion syndrome.
Am J Med Genet A
; 176(10): 2070-2081, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30380194