Detalhe da pesquisa
1.
Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Registry.
Eur Heart J
; 45(16): 1443-1454, 2024 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38427064
2.
Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant.
Clin Genet
; 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38665048
3.
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry.
Eur Heart J
; 44(35): 3357-3370, 2023 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37528649
4.
Facial clues to the photosensitive trichothiodystrophy phenotype in childhood.
J Hum Genet
; 68(6): 437-443, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36810639
5.
Autosomal Recessive Long QT Syndrome: Clinical Aspects and Therapy.
Pediatr Cardiol
; 44(8): 1736-1740, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37597120
6.
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
Hum Mutat
; 43(10): 1377-1395, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35730652
7.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 24(8): 1753-1760, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35579625
8.
8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revision.
Am J Med Genet A
; 188(3): 883-895, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34897976
9.
Congenital heart defects in molecularly confirmed KBG syndrome patients.
Am J Med Genet A
; 188(4): 1149-1159, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34971082
10.
Genetics in Congenital Heart Diseases: Unraveling the Link Between Cardiac Morphogenesis, Heart Muscle Disease, and Electrical Disorders.
Heart Fail Clin
; 18(1): 139-153, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34776075
11.
Clinical Manifestations of 22q11.2 Deletion Syndrome.
Heart Fail Clin
; 18(1): 155-164, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34776076
12.
An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.
Circulation
; 141(6): 429-439, 2020 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31941373
13.
Progressive involvement of cardiac conduction system in paediatric patients with Kearns-Sayre syndrome: how to predict occurrence of complete heart block and sudden cardiac death?
Europace
; 23(6): 948-957, 2021 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33336258
14.
Persistent myocardial atrophy despite LV reverse remodeling in Duchenne cardiomyopathy treated by LVAD.
Pediatr Transplant
; 25(2): e13890, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33105518
15.
Idiopathic Ventricular Fibrillation: Look for the Hidden Guilty-A case of aborted cardiac death.
Pediatr Cardiol
; 42(7): 1650-1652, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34378100
16.
Deciphering Genetic Variants of Warfarin Metabolism in Children With Ventricular Assist Devices.
Pediatr Cardiol
; 42(5): 1082-1087, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33837838
17.
Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
Am J Med Genet A
; 182(1): 64-70, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31729175
18.
Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect.
Am J Med Genet A
; 182(6): 1342-1350, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32319738
19.
KBG syndrome: Common and uncommon clinical features based on 31 new patients.
Am J Med Genet A
; 182(5): 1073-1083, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32124548
20.
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med
; 21(9): 2160-2161, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30696996