Detalles de la búsqueda
1.
Safety and Efficacy of CT-Guided Percutaneous Biopsy of Suspicious Subcentimeter Pelvic and Retroperitoneal Lymph Nodes Detected by 11C-Choline PET in Patients With Prostate Cancer.
AJR Am J Roentgenol
; 220(5): 718-725, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36475814
2.
Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese Multicenter Registry.
Circulation
; 135(23): 2255-2270, 2017 Jun 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-28341781
3.
KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.
J Med Genet
; 54(6): 390-398, 2017 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-28264985
4.
Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.
JAMA
; 315(1): 47-57, 2016 Jan 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-26746457
5.
Sublobar Resection, Stereotactic Body Radiation Therapy, and Percutaneous Ablation Provide Comparable Outcomes for Lung Metastasis-Directed Therapy.
Chest
; 165(5): 1247-1259, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38103730
6.
Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner.
Eur Heart J
; 33(6): 714-23, 2012 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-22199116
7.
Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.
Heart Rhythm
; 15(4): 555-561, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29197658
8.
Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation.
Circ Genom Precis Med
; 11(2): e001424, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29453246
9.
Sudden infant death syndrome and inherited cardiac conditions.
Nat Rev Cardiol
; 14(12): 715-726, 2017 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-28880023
10.
Lidocaine attenuation testing: An in vivo investigation of putative LQT3-associated variants in the SCN5A-encoded sodium channel.
Heart Rhythm
; 14(8): 1173-1179, 2017 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-28412158
11.
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.
J Cardiovasc Transl Res
; 9(2): 153-61, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26914223
12.
The Promise and Peril of Precision Medicine: Phenotyping Still Matters Most.
Mayo Clin Proc
; 2016 Oct 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-27810088
13.
Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.
Circ Cardiovasc Genet
; 8(4): 582-95, 2015 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-25904541
14.
Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel.
J Cardiovasc Transl Res
; 8(3): 187-97, 2015 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-25854863
15.
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.
J Cardiovasc Transl Res
; 7(3): 347-61, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-24510615
16.
Response by Kapplinger et al to Letter Regarding Article, "Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation".
Circ Genom Precis Med
; 11(5): e002176, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29752402
17.
Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded Kv7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation.
HeartRhythm Case Rep
; 4(2): 37-44, 2018 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-29876285
18.
Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.
Circ Cardiovasc Genet
; 5(5): 519-28, 2012 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-22949429
19.
Founder Mutation Genotyping and Sudden Cardiac Arrest: The Promise of Precision Medicine Fulfilled or the Next Step Into Precise Uncertainty.
Circ Cardiovasc Genet
; 9(2): 107-9, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-27094198
20.
Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.
J Am Coll Cardiol
; 57(23): 2317-27, 2011 Jun 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-21636032