Detalhe da pesquisa
1.
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.
Hum Mol Genet
; 33(2): 150-169, 2024 Jan 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37815931
2.
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
Hum Mutat
; 41(12): 2167-2178, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33131162
3.
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
Am J Hum Genet
; 99(3): 666-673, 2016 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27523598
4.
Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD).
Genet Med
; 21(9): 2015-2024, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30739908
5.
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.
Clin Genet
; 95(3): 384-397, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30614526
6.
Familial co-occurrence of congenital heart defects follows distinct patterns.
Eur Heart J
; 39(12): 1015-1022, 2018 03 21.
Artigo
Inglês
| MEDLINE | ID: mdl-29106500
7.
TRPM4 non-selective cation channel variants in long QT syndrome.
BMC Med Genet
; 18(1): 31, 2017 03 18.
Artigo
Inglês
| MEDLINE | ID: mdl-28315637
8.
Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.
Am J Med Genet A
; 173(4): 959-965, 2017 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-28328125
9.
High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.
Europace
; 19(4): 651-659, 2017 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28431061
10.
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.
Hum Mol Genet
; 23(13): 3362-74, 2014 Jul 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24518672
11.
[About a case of a recurrent glandular cardiac myxoma in a child]. / À propos d'un cas de myxome cardiaque avec éléments glandulaires récidivant chez un enfant.
Ann Pathol
; 36(3): 214-7, 2016 Jun.
Artigo
Francês
| MEDLINE | ID: mdl-27234518
12.
Antenatal description of large 4q13.2q21.23 deletion and outcomes.
Mol Genet Genomic Med
; 12(2): e2397, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-38351708
13.
A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.
BMC Med Genet
; 13: 105, 2012 Nov 10.
Artigo
Inglês
| MEDLINE | ID: mdl-23140321
14.
Evidence for genetic heterogeneity in Carvajal syndrome.
Cell Tissue Res
; 348(2): 261-4, 2012 May.
Artigo
Inglês
| MEDLINE | ID: mdl-22350851
15.
Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.
Am J Med Genet A
; 173(9): 2566, 2017 09.
Artigo
Inglês
| MEDLINE | ID: mdl-28816420
16.
Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: early diagnosis of syndromic patients.
Am J Med Genet A
; 158A(4): 720-5, 2012 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-22383218
17.
Ciliary beating recovery in deficient human airway epithelial cells after lentivirus ex vivo gene therapy.
PLoS Genet
; 5(3): e1000422, 2009 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-19300481
18.
Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.
Nat Genet
; 54(1): 62-72, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34903892
19.
Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain.
Hum Mol Genet
; 17(22): 3459-73, 2008 Nov 15.
Artigo
Inglês
| MEDLINE | ID: mdl-18716025
20.
Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing.
Mol Syndromol
; 10(4): 209-213, 2019 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-31602193