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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
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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
2172011
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
2082008
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
1552017
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
1452019
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
682016
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
562013
Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal
AV Postma, M Alders, M Sylva, CM Bilardo, E Pajkrt, RR van Rijn, ...
Journal of Medical Genetics 51 (2), 90-97, 2014
502014
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