Detalhe da pesquisa
1.
Parental Attitudes and Ideas Regarding Newborn Screening for Familial Hypercholesterolemia.
Matern Child Health J
; 27(6): 978-983, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36964843
2.
An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia.
Circulation
; 142(10): 932-947, 2020 09 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32693635
3.
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Genet Med
; 20(3): 351-359, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300372
4.
Clinical Cardiovascular Genetic Counselors Take a Leading Role in Team-based Variant Classification.
J Genet Couns
; 27(4): 751-760, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29234989
5.
Digenic inheritance novel mutations in SCN5a and SNTA1 increase late I(Na) contributing to LQT syndrome.
Am J Physiol Heart Circ Physiol
; 304(7): H994-H1001, 2013 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23376825
6.
Elucidation of ALG10B as a Novel Long-QT Syndrome-Susceptibility Gene.
Circ Genom Precis Med
; 16(2): e003726, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37071726
7.
Clinical and Functional Characterization of Ryanodine Receptor 2 Variants Implicated in Calcium-Release Deficiency Syndrome.
JAMA Cardiol
; 7(1): 84-92, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34730774
8.
Psychosocial consequences of false-positive newborn screens for cystic fibrosis.
Qual Health Res
; 21(2): 174-86, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20852016
9.
Long QT Syndrome KCNH2 Variant Induces hERG1a/1b Subunit Imbalance in Patient-Specific Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Circ Arrhythm Electrophysiol
; 14(4): e009343, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33729832
10.
Shared Decision Making in Cardiac Electrophysiology Procedures and Arrhythmia Management.
Circ Arrhythm Electrophysiol
; 14(12): e007958, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34865518
11.
Newborn screening: an appeal for improved parent education.
J Perinat Neonatal Nurs
; 23(4): 326-34, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19915416
12.
A Case for Inclusion of Genetic Counselors in Cardiac Care.
Cardiol Rev
; 24(2): 49-55, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26186385
13.
KCNJ2 mutation causes an adrenergic-dependent rectification abnormality with calcium sensitivity and ventricular arrhythmia.
Heart Rhythm
; 11(5): 885-94, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24561538
14.
Atrial Fibrillation and Long QT Syndrome Presenting in a 12-Year-Old Girl.
Case Rep Pediatr
; 2012: 124838, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23193492
15.
Flecainide treats a novel KCNJ2 mutation associated with Andersen-Tawil syndrome.
HeartRhythm Case Rep
; 3(2): 151-154, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28491792
16.
Task-oriented and bottle feeding adversely affect the quality of mother-infant interactions after abnormal newborn screens.
J Dev Behav Pediatr
; 31(5): 414-26, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20495477