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Prevalence of congenital heart defects in neuroblastoma patients: a cohort study and systematic review of literature.
Published in:
2009
By:
- Engelen, Klaartje van;
- Merks, Johannes H. M.;
- Lam, Jan;
- Kremer, Leontien C. M.;
- Backes, Manouk;
- Baars, Marieke J. H.;
- Van der Pal, Heleen J. H.;
- Postma, Alex V.;
- Versteeg, Rogier;
- Caron, Huib N.;
- Mulder, Barbara J. M.;
- van Engelen, Klaartje
Publication type:
journal article
Specialized impulse conduction pathway in the alligator heart.
Published in:
eLife, 2018, p. 1, doi. 10.7554/eLife.32120.001
By:
- Jensen, Bjarke;
- Boukens, Bastiaan J.;
- Crossley II, Dane A.;
- Conner, Justin;
- Mohan, Rajiv A.;
- van Duijvenboden, Karel;
- Postma, Alex V.;
- Gloschat, Christopher R.;
- Elsey, Ruth M.;
- Sedmera, David;
- Efimov, Igor R.;
- Christoffels, Vincent M.
Publication type:
Article
GMDS Intragenic Deletions Associate with Congenital Heart Disease including Ebstein Anomaly.
Published in:
Cardiogenetics, 2023, v. 13, n. 3, p. 106, doi. 10.3390/cardiogenetics13030010
By:
- Lo-A-Njoe, Shirley M.;
- Verberne, Eline A.;
- van der Veken, Lars T.;
- Arends, Eric;
- van Tintelen, J. Peter;
- Postma, Alex V.;
- van Haelst, Mieke M.
Publication type:
Article
Ebstein anomaly associated with left ventricular noncompaction: An autosomal dominant condition that can be caused by mutations in MYH7.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2013, v. 163C, n. 3, p. 178, doi. 10.1002/ajmg.c.31365
By:
- Vermeer, Alexa M.C.;
- van Engelen, Klaartje;
- Postma, Alex V.;
- Baars, Marieke J.H.;
- Christiaans, Imke;
- De Haij, Simone;
- Klaassen, Sabine;
- Mulder, Barbara J.M.;
- Keavney, Bernard
Publication type:
Article
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3814, doi. 10.1002/ajmg.a.62417
By:
- Rumping, Lynne;
- Wessels, Marja W.;
- Postma, Alex V.;
- van Schuppen, Joost;
- van Slegtenhorst, Marjon A.;
- Saris, Jasper J.;
- van Tintelen, J. Peter;
- Robertson, Stephen P.;
- Alders, Mariëlle;
- Maas, Saskia M.;
- Deprez, Ronald H. Lekanne
Publication type:
Article
Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1952, doi. 10.1002/ajmg.a.61632
By:
- Verberne, Eline A.;
- Faries, Sonja;
- Mannens, Marcel M. A. M.;
- Postma, Alex V.;
- Haelst, Mieke M.
Publication type:
Article
GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1836, doi. 10.1002/ajmg.a.61294
By:
- Škorić‐Milosavljević, Doris;
- Tjong, Fleur V. Y.;
- Barc, Julien;
- Backx, Ad P. C. M.;
- Clur, Sally‐Ann B.;
- Spaendonck‐Zwarts, Karin;
- Oostra, Roelof‐Jan;
- Lahrouchi, Najim;
- Beekman, Leander;
- Bökenkamp, Regina;
- Barge‐Schaapveld, Daniela Q. C. M.;
- Mulder, Barbara J.;
- Lodder, Elisabeth M.;
- Bezzina, Connie R.;
- Postma, Alex V.
Publication type:
Article
A mutation in the Kozak sequence of GATA4 hampers translation in a family with atrial septal defects.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2732, doi. 10.1002/ajmg.a.36703
By:
- Mohan, Rajiv A.;
- van Engelen, Klaartje;
- Stefanovic, Sonia;
- Barnett, Phil;
- Ilgun, Aho;
- Baars, Marieke J.H.;
- Bouma, Berto J.;
- Mulder, Barbara J.M.;
- Christoffels, Vincent M.;
- Postma, Alex V.
Publication type:
Article
The value of the clinical geneticist caring for adults with congenital heart disease: Diagnostic yield and patients' perspective.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1628, doi. 10.1002/ajmg.a.35973
By:
- van Engelen, Klaartje;
- Baars, Marieke J.H.;
- Felix, Joyce P.;
- Postma, Alex V.;
- Mulder, Barbara J.M.;
- Smets, Ellen M.A.
Publication type:
Article
A validated heart-specific model for splice-disrupting variants in childhood heart disease.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01383-8
By:
- Lesurf, Robert;
- Breckpot, Jeroen;
- Bouwmeester, Jade;
- Hanafi, Nour;
- Jain, Anjali;
- Liang, Yijing;
- Papaz, Tanya;
- Lougheed, Jane;
- Mondal, Tapas;
- Alsalehi, Mahmoud;
- Altamirano-Diaz, Luis;
- Oechslin, Erwin;
- Audain, Enrique;
- Dombrowsky, Gregor;
- Postma, Alex V.;
- Woudstra, Odilia I.;
- Bouma, Berto J.;
- Hitz, Marc-Phillip;
- Bezzina, Connie R.;
- Blue, Gillian M.
Publication type:
Article
The Ambiguous Role of NKX2-5 Mutations in Thyroid Dysgenesis.
Published in:
PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052685
By:
- van Engelen, Klaartje;
- Mommersteeg, Mathilda T. M.;
- Baars, Marieke J. H.;
- Jan Lam;
- Ilgun, Aho;
- van Trotsenburg, A. S. Paul;
- Smets, Anne M. J. B.;
- Christoffels, Vincent M.;
- Mulder, Barbara J. M.;
- Postma, Alex V.
Publication type:
Article
Identifying the Evolutionary Building Blocks of the Cardiac Conduction System.
Published in:
PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0044231
By:
- Jensen, Bjarke;
- Boukens, Bastiaan J. D.;
- Postma, Alex V.;
- Gunst, Quinn D.;
- van den Hoff, Maurice J. B.;
- Moorman, Antoon F. M.;
- Wang, Tobias;
- Christoffels, Vincent M.;
- Goumans, Marie Jose
Publication type:
Article
Bicuspid aortic valve morphology and associated cardiovascular abnormalities in fetal turner syndrome: a pathomorphological study.
Published in:
2014
By:
- van Engelen, Klaartje;
- Bartelings, Margot M;
- Gittenberger-de Groot, Adriana C;
- Baars, Marieke J H;
- Postma, Alex V;
- Bijlsma, Emilia K;
- Mulder, Barbara J M;
- Jongbloed, Monique R M
Publication type:
Journal Article
Bicuspid Aortic Valve Morphology and Associated Cardiovascular Abnormalities in Fetal Turner Syndrome: A Pathomorphological Study.
Published in:
Fetal Diagnosis & Therapy, 2014, v. 36, n. 1, p. 59, doi. 10.1159/000357706
By:
- van Engelen, Klaartje;
- Bartelings, Margot M.;
- Gittenberger-de Groot, Adriana C.;
- Baars, Marieke J.H.;
- Postma, Alex V.;
- Bijlsma, Emilia K.;
- Mulder, Barbara J.M.;
- Jongbloed, Monique R.M.
Publication type:
Article
Genomic organisation and chromosomal localisation of two members of the KCND ion channel family, KCND2 and KCND3.
Published in:
Human Genetics, 2000, v. 106, n. 6, p. 614, doi. 10.1007/s004390000308
By:
- Postma, Alex V.;
- Bezzina, Connie R.;
- de Vries, Jeltje F.;
- Wilde, Arthur A. M.;
- Moorman, Antoon F. M.;
- Mannens, Marcel M. A. M.
Publication type:
Article
A Novel Early Onset Lethal Form of Catecholaminergic Polymorphic Ventricular Tachycardia Maps to Chromosome 7p14-p22.
Published in:
Journal of Cardiovascular Electrophysiology, 2007, v. 18, n. 10, p. 1060, doi. 10.1111/j.1540-8167.2007.00913.x
By:
- BHUIYAN, ZAHURUL A.;
- HAMDAN, MOHAMED A.;
- SHAMSI, EMAN T.A.;
- POSTMA, ALEX V.;
- MANNENS, MARCEL M.A.M.;
- WILDE, ARTHUR A. M.;
- AL‐GAZALI, LIHADH
Publication type:
Article
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-08547-w
By:
- Lahrouchi, Najim;
- George, Aman;
- Ratbi, Ilham;
- Schneider, Ronen;
- Elalaoui, Siham C.;
- Moosa, Shahida;
- Bharti, Sanita;
- Sharma, Ruchi;
- Abu-Asab, Mones;
- Onojafe, Felix;
- Adadi, Najlae;
- Lodder, Elisabeth M.;
- Laarabi, Fatima-Zahra;
- Lamsyah, Yassine;
- Elorch, Hamza;
- Chebbar, Imane;
- Postma, Alex V.;
- Lougaris, Vassilios;
- Plebani, Alessandro;
- Altmueller, Janine
Publication type:
Article
A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 7, p. 820, doi. 10.1038/ejhg.2011.33
By:
- van de Meerakker, Judith B. A.;
- van Engelen, Klaartje;
- Mathijssen, Inge B.;
- Lekanne dit Deprez, Ronald H.;
- Lam, Jan;
- Wilde, Arthur A. M.;
- Baars, Marieke J. H.;
- Mannens, Marcel M. A. M.;
- Mulder, Barbara J. M.;
- Moorman, Antoon F. M.;
- Postma, Alex V.
Publication type:
Article
Decreased inward rectification of Kir2.1 channels is a novel mechanism underlying the short QT syndrome.
Published in:
Cardiovascular Research, 2012, v. 93, n. 4, p. 535, doi. 10.1093/cvr/cvs084
By:
- Casini, Simona;
- Postma, Alex V.
Publication type:
Article
Developmental aspects of cardiac arrhythmogenesis.
Published in:
Cardiovascular Research, 2011, v. 91, n. 2, p. 243, doi. 10.1093/cvr/cvr134
By:
- Postma, Alex V.;
- Christoffels, Vincent M.;
- Bezzina, Connie R.
Publication type:
Article
Corrigendum to: Functional analysis of novel TBX5 T-box mutations associated with Holt–Oram syndrome.
Published in:
2011
By:
- Boogerd, Cornelis J.J.;
- Dooijes, Dennis;
- Ilgun, Aho;
- Mathijssen, Inge B.;
- Hordijk, Roel;
- van de Laar, Ingrid M.B.H.;
- Rump, Patrick;
- Veenstra-Knol, Hermine E.;
- Moorman, Antoon F.M.;
- Barnett, Phil;
- Postma, Alex V.
Publication type:
Erratum
Functional analysis of novel TBX5 T-box mutations associated with Holt–Oram syndrome.
Published in:
Cardiovascular Research, 2010, v. 88, n. 1, p. 130, doi. 10.1093/cvr/cvq178
By:
- Boogerd, Cornelis J. J.;
- Dooijes, Dennis;
- Ilgun, Aho;
- Hordijk, Roel;
- Van De Laar, Ingrid M. B. H.;
- Rump, Patrick;
- Veenstra-Knol, Hermine E.;
- Moorman, Antoon F. M.;
- Barnett, Phil;
- Postma, Alex V.
Publication type:
Article
A Case of Catecholaminergic Polymorphic Ventricular Tachycardia Caused by Two Calsequestrin 2 Mutations.
Published in:
Pacing & Clinical Electrophysiology, 2008, v. 31, n. 7, p. 916, doi. 10.1111/j.1540-8159.2008.01111.x
By:
- DE LA FUENTE, SAM;
- VAN LANGEN, IRENE M.;
- POSTMA, ALEX V.;
- BIKKER, HENNI;
- MEIJER, ALBERT
Publication type:
Article
The Clinical and Molecular Relations Between Idiopathic Preterm Labor and Maternal Congenital Heart Defects.
Published in:
Reproductive Sciences, 2013, v. 20, n. 2, p. 190, doi. 10.1177/1933719112446083
By:
- de Laat, Monique W. M.;
- Pieper, Petronella G.;
- Oudijk, Martijn A.;
- Mulder, Barbara J. M.;
- Christoffels, Vincent M.;
- Afink, Gijs B.;
- Postma, Alex V.;
- Ris-Stalpers, Carrie
Publication type:
Article
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.
Published in:
2021
By:
- Lahrouchi, Najim;
- Postma, Alex V.;
- Salazar, Christian M.;
- De Laughter, Daniel M.;
- Tjong, Fleur;
- Piherová, Lenka;
- Bowling, Forrest Z.;
- Zimmerman, Dominic;
- Lodder, Elisabeth M.;
- Ta-Shma, Asaf;
- Perles, Zeev;
- Beekman, Leander;
- Ilgun, Aho;
- Gunst, Quinn;
- Hababa, Mariam;
- Škorić-Milosavljević, Doris;
- Stránecký, Viktor;
- Tomek, Viktor;
- de Knijff, Peter;
- de Leeuw, Rick
Publication type:
journal article
Loss-of-function variants in myocardin cause congenital megabladder in humans and mice.
Published in:
2019
By:
- Houweling, Arjan C.;
- Beaman, Glenda M.;
- Postma, Alex V.;
- Gainous, T. Blair;
- Lichtenbelt, Klaske D.;
- Brancati, Francesco;
- Lopes, Filipa M.;
- van der Made, Ingeborg;
- Polstra, Abeltje M.;
- Robinson, Michael L.;
- Wright, Kevin D.;
- Ellingford, Jamie M.;
- Jackson, Ashley R.;
- Overwater, Eline;
- Genesio, Rita;
- Romano, Silvio;
- Camerota, Letizia;
- D'Angelo, Emanuela;
- Meijers-Heijboer, Elizabeth J.;
- Christoffels, Vincent M.
Publication type:
journal article
Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.
Published in:
2017
By:
- Jansweijer, Joeri A.;
- Nieuwhof, Karin;
- Russo, Francesco;
- Hoorntje, Edgar T.;
- Jongbloed, Jan D.H.;
- Lekanne Deprez, Ronald H.;
- Postma, Alex V.;
- Bronk, Marieke;
- van Rijsingen, Ingrid A.W.;
- de Haij, Simone;
- Biagini, Elena;
- van Haelst, Paul L.;
- van Wijngaarden, Jan;
- van den Berg, Maarten P.;
- Wilde, Arthur A.M.;
- Mannens, Marcel M.A.M.;
- de Boer, Rudolf A.;
- van Spaendonck-Zwarts, Karin Y.;
- van Tintelen, J. Peter;
- Pinto, Yigal M.
Publication type:
journal article
PRDM10 directs FLCN expression in a novel disorder overlapping with Birt–Hogg–Dubé syndrome and familial lipomatosis.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 7, p. 1223, doi. 10.1093/hmg/ddac288
By:
- van de Beek, Irma;
- Glykofridis, Iris E;
- Oosterwijk, Jan C;
- Akker, Peter C van den;
- Diercks, Gilles F H;
- Bolling, Maria C;
- Waisfisz, Quinten;
- Mensenkamp, Arjen R;
- Balk, Jesper A;
- Zwart, Rob;
- Postma, Alex V;
- Meijers-Heijboer, Hanne E J;
- Moorselaar, R Jeroen A van;
- Wolthuis, Rob M F;
- Houweling, Arjan C
Publication type:
Article
Identifying pathogenic variants in the Follistatin‐like 1 gene (FSTL1) in patients with skeletal and atrioventricular valve disorders.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 4, p. N.PAG, doi. 10.1002/mgg3.567
By:
- Prakash, Stuti;
- Mattiotti, Andrea;
- Sylva, Marc;
- Mulder, Barbara J. M.;
- Postma, Alex V.;
- van den Hoff, Maurice J. B.
Publication type:
Article
Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 7, p. 1473, doi. 10.1093/hmg/dds552
By:
- Cordell, Heather J.;
- Töpf, Ana;
- Mamasoula, Chrysovalanto;
- Postma, Alex V.;
- Bentham, Jamie;
- Zelenika, Diana;
- Heath, Simon;
- Blue, Gillian;
- Cosgrove, Catherine;
- Granados Riveron, Javier;
- Darlay, Rebecca;
- Soemedi, Rachel;
- Wilson, Ian J.;
- Ayers, Kristin L.;
- Rahman, Thahira J.;
- Hall, Darroch;
- Mulder, Barbara J.M.;
- Zwinderman, Aelko H.;
- van Engelen, Klaartje;
- Brook, J. David
Publication type:
Article
A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function.
Published in:
Human Mutation, 2016, v. 37, n. 2, p. 194, doi. 10.1002/humu.22928
By:
- Noël, Emily S.;
- Momenah, Tarek S.;
- Al‐Dagriri, Khalid;
- Al‐Suwaid, Abdulrahman;
- Al‐Shahrani, Safar;
- Jiang, Hui;
- Willekers, Sven;
- Oostveen, Yara Y.;
- Chocron, Sonja;
- Postma, Alex V.;
- Bhuiyan, Zahurul A.;
- Bakkers, Jeroen
Publication type:
Article
Familial co-occurrence of congenital heart defects follows distinct patterns.
Published in:
European Heart Journal, 2018, v. 39, n. 12, p. 1015, doi. 10.1093/eurheartj/ehx314
By:
- Ellesøe, Sabrina G;
- Workman, Christopher T;
- Bouvagnet, Patrice;
- Loffredo, Christopher A;
- McBride, Kim L;
- Hinton, Robert B;
- Engelen, Klaartje van;
- Gertsen, Emma C;
- Mulder, Barbara J M;
- Postma, Alex V
Publication type:
Article
TGFBR1 Variants Can Associate with Non-Syndromic Congenital Heart Disease without Aortopathy.
Published in:
Journal of Cardiovascular Development & Disease (JCDD), 2023, v. 10, n. 11, p. 455, doi. 10.3390/jcdd10110455
By:
- Alaamery, Manal;
- Albesher, Nour;
- Alhabshan, Fahad;
- Barnett, Phil;
- Salim Kabbani, Mohamed;
- Chaikhouni, Farah;
- Ilgun, Aho;
- Mook, Olaf R. F.;
- Alsaif, Hessa;
- Christoffels, Vincent M.;
- van Tintelen, Peter;
- Wilde, Arthur A. M.;
- Houweling, Arjan C.;
- Massadeh, Salam;
- Postma, Alex V.
Publication type:
Article
Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.
Published in:
European Journal of Heart Failure. Supplements, 2017, v. 19, n. 4, p. 512, doi. 10.1002/ejhf.673
By:
- Jansweijer, Joeri A.;
- Nieuwhof, Karin;
- Russo, Francesco;
- Hoorntje, Edgar T.;
- Jongbloed, Jan D. H.;
- Deprez, Ronald H. Lekanne;
- Postma, Alex V.;
- Bronk, Marieke;
- van Rijsingen, Ingrid A. W.;
- de Haij, Simone;
- Biagini, Elena;
- van Haelst, Paul L.;
- van Wijngaarden, Jan;
- van den Berg, Maarten P.;
- Wilde, Arthur A. M.;
- Mannens, Marcel M. A. M.;
- de Boer, Rudolf A.;
- van Spaendonck-Zwarts, Karin Y.;
- van Tintelen, J. Peter;
- Pinto, Yigal M.
Publication type:
Article

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