Detalhe da pesquisa
1.
Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease.
Int J Mol Sci
; 25(8)2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38673884
2.
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
3.
NOTCH1 Gene as a Novel Cause of Thoracic Aortic Aneurysm in Patients with Tricuspid Aortic Valve: Two Cases Reported.
Int J Mol Sci
; 24(10)2023 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37239988
4.
Disrupted in schizophrenia 1 (DISC1) is a constituent of the mammalian mitochondrial contact site and cristae organizing system (MICOS) complex, and is essential for oxidative phosphorylation.
Hum Mol Genet
; 25(19): 4157-4169, 2016 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27466199
5.
Gene network and familial analyses uncover a gene network involving Tbx5/Osr1/Pcsk6 interaction in the second heart field for atrial septation.
Hum Mol Genet
; 25(6): 1140-51, 2016 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26744331
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.
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
8.
Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour.
Hum Mol Genet
; 24(10): 2914-22, 2015 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25678551
9.
A Pilot Study of Fragile X Syndrome Screening in Pregnant Women and Women Planning Pregnancy: Implementation, Acceptance, Awareness, and Geographic Factors.
J Genet Couns
; 26(3): 501-510, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27714485
10.
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
11.
Genome-wide linkage analysis of congenital heart defects using MOD score analysis identifies two novel loci.
BMC Genet
; 14: 44, 2013 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-23705960
12.
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.
NPJ Genom Med
; 8(1): 17, 2023 Jul 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37463940
13.
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
Am J Med Genet A
; 158A(11): 2781-7, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23034814
14.
New Variant in Placophilin-2 Gene Causing Arrhythmogenic Myocardiopathy.
Genes (Basel)
; 13(5)2022 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35627167
15.
Genotype-Phenotype Correlation in Hypertrophic Cardiomyopathy: New Variant p.Arg652Lys in MYH7.
Genes (Basel)
; 13(2)2022 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35205365
16.
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
17.
Case Report: A Novel NKX2-5 Mutation in a Family With Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, and Sudden Cardiac Death.
Front Cardiovasc Med
; 8: 691203, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34277740
18.
Diagnostic Yield of Genetic Testing in Sudden Cardiac Death with Autopsy Findings of Uncertain Significance.
J Clin Med
; 10(9)2021 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33919104
19.
Propionic acidemia: a rare cause of dilated cardiomyopathy and long QT syndrome.
Rev Esp Cardiol (Engl Ed)
; 76(2): 129-132, 2023 02.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-36126866
20.
Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.
Eur J Hum Genet
; 15(6): 658-63, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17377518