关注
Dr AV Postma
Dr AV Postma
Department of Medical Biology, Department of Human Genetics, Amsterdam UMC, the
在 amc.uva.nl 的电子邮件经过验证 - 首页
标题
引用次数
引用次数
年份
A Single Na+ Channel Mutation Causing Both Long-QT and Brugada Syndromes
C Bezzina, MW Veldkamp, MP van den Berg, AV Postma, MB Rook, ...
Circulation research 85 (12), 1206-1213, 1999
8351999
Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia
AV Postma, I Denjoy, TM Hoorntje, JM Lupoglazoff, A Da Costa, ...
Circulation research 91 (8), e21-e26, 2002
5072002
Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients
AV Postma, I Denjoy, J Kamblock, M Alders, JM Lupoglazoff, G Vaksmann, ...
Journal of medical genetics 42 (11), 863-870, 2005
3662005
Expanding Spectrum of Human RYR2-Related Disease: New Electrocardiographic, Structural, and Genetic Features
ZA Bhuiyan, MP van den Berg, JP van Tintelen, MTE Bink-Boelkens, ...
Circulation 116 (14), 1569-1576, 2007
2732007
Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly
AV Postma, K Van Engelen, J Van De Meerakker, T Rahman, S Probst, ...
Circulation: Cardiovascular Genetics 4 (1), 43-50, 2011
2182011
HCN4 Mutations in Multiple Families With Bradycardia and Left Ventricular Noncompaction Cardiomyopathy
A Milano, AMC Vermeer, EM Lodder, J Barc, AO Verkerk, AV Postma, ...
Journal of the American College of Cardiology 64 (8), 745-756, 2014
2122014
A gain-of-function TBX5 mutation is associated with atypical Holt–Oram syndrome and paroxysmal atrial fibrillation
AV Postma, JBA Van De Meerakker, IB Mathijssen, P Barnett, ...
Circulation research 102 (11), 1433-1442, 2008
2092008
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16
HJ Cordell, J Bentham, A Topf, D Zelenika, S Heath, C Mamasoula, ...
Nature genetics 45 (7), 822-824, 2013
1592013
Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy
JA Jansweijer, K Nieuwhof, F Russo, ET Hoorntje, JDH Jongbloed, ...
European journal of heart failure 19 (4), 512-521, 2017
1562017
Whole exome sequencing reveals the major genetic contributors to nonsyndromic tetralogy of Fallot
DJ Page, MJ Miossec, SG Williams, RM Monaghan, E Fotiou, HJ Cordell, ...
Circulation research 124 (4), 553-563, 2019
1482019
Identifying the evolutionary building blocks of the cardiac conduction system
B Jensen, BJD Boukens, AV Postma, QD Gunst, MJB van den Hoff, ...
Public Library of Science 7 (9), e44231, 2012
1192012
Haploinsufficiency of TAB2 causes congenital heart defects in humans
B Thienpont, L Zhang, AV Postma, J Breckpot, LC Tranchevent, ...
The American Journal of Human Genetics 86 (6), 839-849, 2010
1132010
A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14‐p22
ZA Bhuiyan, MA Hamdan, ETA Shamsi, AV Postma, MMAM Mannens, ...
Journal of cardiovascular electrophysiology 18 (10), 1060-1066, 2007
1042007
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot
HJ Cordell, A Töpf, C Mamasoula, AV Postma, J Bentham, D Zelenika, ...
Human molecular genetics 22 (7), 1473-1481, 2013
992013
Genetics of congenital heart disease: the contribution of the noncoding regulatory genome
AV Postma, CR Bezzina, VM Christoffels
Journal of human genetics 61 (1), 13-19, 2016
692016
Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot
A Baban, AV Postma, M Marini, G Trocchio, A Santilli, M Pelegrini, ...
American journal of medical genetics Part A 164 (12), 3100-3107, 2014
642014
22q11. 2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia
K Van Engelen, A Topf, BD Keavney, JA Goodship, ET Van Der Velde, ...
Heart 96 (8), 621-624, 2010
622010
Functional analysis of novel TBX5 T-box mutations associated with Holt–Oram syndrome
CJJ Boogerd, D Dooijes, A Ilgun, IB Mathijssen, R Hordijk, ...
Cardiovascular research 88 (1), 130-139, 2010
602010
Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7
AMC Vermeer, K Van Engelen, AV Postma, MJH Baars, I Christiaans, ...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2013
582013
Whole-Exome Sequencing Identifies Pathogenic Variants in TJP1 Gene Associated With Arrhythmogenic Cardiomyopathy
M De Bortoli, AV Postma, G Poloni, M Calore, G Minervini, E Mazzotti, ...
Circulation: Genomic and Precision Medicine 11 (10), e002123, 2018
512018
系统目前无法执行此操作,请稍后再试。
文章 1–20