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1.
Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery.
PLoS Genet
; 18(6): e1010236, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35737725
2.
Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy.
PLoS Genet
; 16(5): e1008639, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32453731
3.
A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.
Hum Mol Genet
; 25(11): 2331-2341, 2016 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26965164
4.
Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.
Am J Med Genet A
; 173(8): 2176-2188, 2017 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-28653806
5.
Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve.
Pediatr Res
; 76(2): 211-6, 2014 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-24796370
6.
DDAH1 SNP rs480414 that protects against the development of pulmonary hypertension in bronchopulmonary dysplasia results in lower nitric oxide production in neonatal cord blood-derived lymphoblastoid cell lines.
J Neonatal Perinatal Med
; 15(1): 113-121, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-34151866
7.
Novel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruption.
Kidney Int
; 79(1): 120-7, 2011 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-20881942
8.
Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects.
Birth Defects Res A Clin Mol Teratol
; 91(3): 162-8, 2011 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-21290564
9.
NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.
Hum Mol Genet
; 17(18): 2886-93, 2008 Sep 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-18593716
10.
Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.
Circ Cardiovasc Genet
; 9(4): 320-9, 2016 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-27418595
11.
Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve.
BMC Med Genomics
; 7: 56, 2014 Sep 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-25260786
12.
Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).
Eur J Hum Genet
; 17(6): 811-9, 2009 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-19142209
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