Detalhe da pesquisa
1.
Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.
Hum Mol Genet
; 32(7): 1072-1082, 2023 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36269083
2.
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.
Eur Heart J
; 43(15): 1500-1510, 2022 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34557911
3.
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.
Circulation
; 141(6): 418-428, 2020 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31983240
4.
Carriers of ABCB4 gene variants show a mild clinical course, but impaired quality of life and limited risk for cholangiocarcinoma.
Liver Int
; 40(12): 3042-3050, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32893960
5.
Mutations in IRS4 are associated with central hypothyroidism.
J Med Genet
; 55(10): 693-700, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30061370
6.
Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers.
Eur Heart J
; 36(14): 847-55, 2015 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25616645
7.
The ARVD/C genetic variants database: 2014 update.
Hum Mutat
; 36(4): 403-10, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25676813
8.
Characterization and treatment of persistent hepatocellular secretory failure.
Liver Int
; 35(4): 1478-88, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24905729
9.
NTCP deficiency and persistently raised bile salts: an adult case.
J Inherit Metab Dis
; 40(3): 313-315, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28283843
10.
Clinical and genetic characterization of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy caused by a plakophilin-2 splice mutation.
Cardiology
; 123(3): 181-9, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23147395
11.
Mild Isolated Congenital Central Hypothyroidism Due to a Novel Homozygous Variant in TSHB: A Case Report.
Thyroid
; 32(4): 472-474, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35102753
12.
A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome.
Heart Rhythm
; 19(3): 435-442, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34798354
13.
Early Lethal Noncompaction Cardiomyopathy in Siblings With Compound Heterozygous RYR2 Variant.
Can J Cardiol
; 37(11): 1864-1866, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33984427
14.
A Newborn Falsely Suspected of Congenital Hypothyroidism due to Mutated Thyroxine-Binding Globulin with Low Binding Affinity.
Horm Res Paediatr
; 94(1-2): 76-80, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34126618
15.
Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation.
Ann Pediatr Endocrinol Metab
; 26(4): 278-283, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33971706
16.
Defective Levothyroxine Response in a Patient with Dyshormonogenic Congenital Hypothyroidism Caused by a Concurrent Pathogenic Variant in Thyroid Hormone Receptor-ß.
Thyroid
; 31(11): 1757-1762, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34382419
17.
Case series, chemotherapy-induced cardiomyopathy: mind the family history!
Eur Heart J Case Rep
; 5(10): ytab333, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34703979
18.
A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Hum Mutat
; 30(9): 1278-83, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19569224
19.
Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4.
Thyroid
; 33(7): 880-884, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36860195
20.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-29453246