Detalhe da pesquisa
1.
ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype.
Clin Genet
; 98(1): 56-63, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32323311
2.
A case report on endarteritis in a child with coarctation of aorta.
Echocardiography
; 36(7): 1427-1430, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31237036
3.
Endocarditis of a congenital coronary fistula in a child.
Cardiol Young
; 28(2): 334-337, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28889830
4.
Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families.
Genet Med
; 18(9): 914-23, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26820064
5.
NPHP4 variants are associated with pleiotropic heart malformations.
Circ Res
; 110(12): 1564-74, 2012 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-22550138
6.
Mucopolysaccharidosis: cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI.
J Inherit Metab Dis
; 36(2): 227-34, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22278137
7.
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.
J Med Genet
; 49(1): 47-57, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22167769
8.
Low agreement between cardiologists diagnosing left ventricular hypertrophy in children with end-stage renal disease.
BMC Nephrol
; 14: 170, 2013 Aug 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23915058
9.
First locus for primary pulmonary vein stenosis maps to chromosome 2q.
Eur Heart J
; 30(20): 2485-92, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19578166
10.
Linking the heart and the brain: Neurodevelopmental disorders in patients with catecholaminergic polymorphic ventricular tachycardia.
Heart Rhythm
; 16(2): 220-228, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30170228
11.
A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p.
Hum Genet
; 122(6): 595-603, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17938964
12.
Outcomes of Contemporary Family Screening in Hypertrophic Cardiomyopathy.
Circ Genom Precis Med
; 11(4): e001896, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29661763
13.
Cardiac outcome in classic infantile Pompe disease after 13â¯years of treatment with recombinant human acid alpha-glucosidase.
Int J Cardiol
; 269: 104-110, 2018 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30049495
14.
Clinical Characteristics and Long-Term Outcome of Hypertrophic Cardiomyopathy in Individuals With a MYBPC3 (Myosin-Binding Protein C) Founder Mutation.
Circ Cardiovasc Genet
; 10(4)2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28794111
15.
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.
J Am Coll Cardiol
; 67(5): 515-25, 2016 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26846950
16.
Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.
Eur J Hum Genet
; 23(7): 922-8, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25335496
17.
Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy.
Circ Genom Precis Med
; 12(3): e002395, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30919683
18.
Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome.
Circ Genom Precis Med
; 11(12): e002397, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30562116
19.
Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives.
Circ Arrhythm Electrophysiol
; 5(4): 748-56, 2012 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22787013
20.
Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants.
J Am Coll Cardiol
; 60(5): 397-403, 2012 Jul 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-22633655