Zobrazeno 1 - 10
of 101
pro vyhledávání: '"Alex V, Postma"'
Autor:
Robert Lesurf, Jeroen Breckpot, Jade Bouwmeester, Nour Hanafi, Anjali Jain, Yijing Liang, Tanya Papaz, Jane Lougheed, Tapas Mondal, Mahmoud Alsalehi, Luis Altamirano-Diaz, Erwin Oechslin, Enrique Audain, Gregor Dombrowsky, Alex V. Postma, Odilia I. Woudstra, Berto J. Bouma, Marc-Phillip Hitz, Connie R. Bezzina, Gillian M. Blue, David S. Winlaw, Seema Mital
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-24 (2024)
Abstract Background Congenital heart disease (CHD) is the most common congenital anomaly. Almost 90% of isolated cases have an unexplained genetic etiology after clinical testing. Non-canonical splice variants that disrupt mRNA splicing through the l
Externí odkaz:
https://doaj.org/article/1d371c4ddd2340898e94f229a04d496b
Autor:
Julia E. Niskanen, Åsa Ohlsson, Ingrid Ljungvall, Michaela Drögemüller, Robert F. Ernst, Dennis Dooijes, Hanneke W. M. van Deutekom, J. Peter van Tintelen, Christian J. B. Snijders Blok, Marion van Vugt, Jessica van Setten, Folkert W. Asselbergs, Aleksandra Domanjko Petrič, Milla Salonen, Sruthi Hundi, Matthias Hörtenhuber, DoGA consortium, Juha Kere, W. Glen Pyle, Jonas Donner, Alex V. Postma, Tosso Leeb, Göran Andersson, Marjo K. Hytönen, Jens Häggström, Maria Wiberg, Jana Friederich, Jenny Eberhard, Magdalena Harakalova, Frank G. van Steenbeek, Gerhard Wess, Hannes Lohi
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-21 (2023)
Abstract Background Dilated cardiomyopathy (DCM) is a life-threatening heart disease and a common cause of heart failure due to systolic dysfunction and subsequent left or biventricular dilatation. A significant number of cases have a genetic etiolog
Externí odkaz:
https://doaj.org/article/49a1dbcf15a6421cbf422ecc2a464ea9
Autor:
Shirley M. Lo-A-Njoe, Eline A. Verberne, Lars T. van der Veken, Eric Arends, J. Peter van Tintelen, Alex V. Postma, Mieke M. van Haelst
Publikováno v:
Cardiogenetics, Vol 13, Iss 3, Pp 106-112 (2023)
Ebstein anomaly is a rare heterogeneous congenital heart defect (CHD) with a largely unknown etiology. We present a 6-year-old girl with Ebstein anomaly, atrial septum defect, hypoplastic right ventricle, and persistent left superior vena cava who ha
Externí odkaz:
https://doaj.org/article/b48491215f304c5baaefdf1e22601a93
Autor:
Stijntje Hibender, Siyu Li, Alex V Postma, Myrthe E Hoogeland, Denise Klaver, Richard B Pouw, Hans W Niessen, Antoine HG Driessen, David R Koolbergen, Carlie JM de Vries, Marieke JH Baars, Arjan C Houweling, Paul A Krijnen, Vivian de Waard
Publikováno v:
Vascular Biology, Vol 4, Iss 1, Pp 40-49 (2022)
Marfan syndrome (MFS) is a connective tissue disorder causing aortic aneurysm formation. Currently, only prophylactic aortic surgery and blood pressure-lowering drugs are available to reduce the risk of aortic rupture. Upon whole genome sequencing of
Externí odkaz:
https://doaj.org/article/d46834c056ed40f195ae750f5a23a4ec
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 5 (2023)
Externí odkaz:
https://doaj.org/article/f53c47389ae242b1b6f399be3266fdfe
Autor:
Manal Alaamery, Nour Albesher, Fahad Alhabshan, Phil Barnett, Mohamed Salim Kabbani, Farah Chaikhouni, Aho Ilgun, Olaf R. F. Mook, Hessa Alsaif, Vincent M. Christoffels, Peter van Tintelen, Arthur A. M. Wilde, Arjan C. Houweling, Salam Massadeh, Alex V. Postma
Publikováno v:
Journal of Cardiovascular Development and Disease, Vol 10, Iss 11, p 455 (2023)
Background: Congenital heart diseases (CHD) are the most common congenital malformations in newborns and remain the leading cause of mortality among infants under one year old. Molecular diagnosis is crucial to evaluate the recurrence risk and to add
Externí odkaz:
https://doaj.org/article/9f1524d26e144b9f88b2e4419e250bd4
Autor:
Alex V. Postma, Christina K. Rapp, Katrin Knoflach, Alexander E. Volk, Johannes R. Lemke, Maximilian Ackermann, Nicolas Regamey, Philipp Latzin, Lucas Celant, Samara M.A. Jansen, Harm J. Bogaard, Aho Ilgun, Mariëlle Alders, Karin Y. van Spaendonck-Zwarts, Danny Jonigk, Christoph Klein, Stefan Gräf, Christian Kubisch, Arjan C. Houweling, Matthias Griese
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100811- (2023)
Purpose: The aim of this study was to identify the monogenic cause of pulmonary arterial hypertension (PAH), a multifactorial and often fatal disease, in 2 unrelated consanguine families. Methods: We performed exome sequencing and validated variant p
Externí odkaz:
https://doaj.org/article/dc7a871eb18547b29046bbf552c654c5
Autor:
Enrique Audain, Anna Wilsdon, Jeroen Breckpot, Jose M G Izarzugaza, Tomas W Fitzgerald, Anne-Karin Kahlert, Alejandro Sifrim, Florian Wünnemann, Yasset Perez-Riverol, Hashim Abdul-Khaliq, Mads Bak, Anne S Bassett, D Woodrow Benson, Felix Berger, Ingo Daehnert, Koenraad Devriendt, Sven Dittrich, Piers Ef Daubeney, Vidu Garg, Karl Hackmann, Kirstin Hoff, Philipp Hofmann, Gregor Dombrowsky, Thomas Pickardt, Ulrike Bauer, Bernard D Keavney, Sabine Klaassen, Hans-Heiner Kramer, Christian R Marshall, Dianna M Milewicz, Scott Lemaire, Joseph S Coselli, Michael E Mitchell, Aoy Tomita-Mitchell, Siddharth K Prakash, Karl Stamm, Alexandre F R Stewart, Candice K Silversides, Reiner Siebert, Brigitte Stiller, Jill A Rosenfeld, Inga Vater, Alex V Postma, Almuth Caliebe, J David Brook, Gregor Andelfinger, Matthew E Hurles, Bernard Thienpont, Lars Allan Larsen, Marc-Phillip Hitz
Publikováno v:
PLoS Genetics, Vol 17, Iss 9, p e1009809 (2021)
[This corrects the article DOI: 10.1371/journal.pgen.1009679.].
Externí odkaz:
https://doaj.org/article/ee3c8898ef0a43729adf837c70afaa5a
Autor:
Enrique Audain, Anna Wilsdon, Jeroen Breckpot, Jose M G Izarzugaza, Tomas W Fitzgerald, Anne-Karin Kahlert, Alejandro Sifrim, Florian Wünnemann, Yasset Perez-Riverol, Hashim Abdul-Khaliq, Mads Bak, Anne S Bassett, D Woodrow Benson, Felix Berger, Ingo Daehnert, Koenraad Devriendt, Sven Dittrich, Piers Ef Daubeney, Vidu Garg, Karl Hackmann, Kirstin Hoff, Philipp Hofmann, Gregor Dombrowsky, Thomas Pickardt, Ulrike Bauer, Bernard D Keavney, Sabine Klaassen, Hans-Heiner Kramer, Christian R Marshall, Dianna M Milewicz, Scott Lemaire, Joseph S Coselli, Michael E Mitchell, Aoy Tomita-Mitchell, Siddharth K Prakash, Karl Stamm, Alexandre F R Stewart, Candice K Silversides, Reiner Siebert, Brigitte Stiller, Jill A Rosenfeld, Inga Vater, Alex V Postma, Almuth Caliebe, J David Brook, Gregor Andelfinger, Matthew E Hurles, Bernard Thienpont, Lars Allan Larsen, Marc-Phillip Hitz
Publikováno v:
PLoS Genetics, Vol 17, Iss 7, p e1009679 (2021)
Numerous genetic studies have established a role for rare genomic variants in Congenital Heart Disease (CHD) at the copy number variation (CNV) and de novo variant (DNV) level. To identify novel haploinsufficient CHD disease genes, we performed an in
Externí odkaz:
https://doaj.org/article/92067f3613e64d39b29f8fdaa8154ba8
Autor:
Najim Lahrouchi, Aman George, Ilham Ratbi, Ronen Schneider, Siham C. Elalaoui, Shahida Moosa, Sanita Bharti, Ruchi Sharma, Mones Abu-Asab, Felix Onojafe, Najlae Adadi, Elisabeth M. Lodder, Fatima-Zahra Laarabi, Yassine Lamsyah, Hamza Elorch, Imane Chebbar, Alex V. Postma, Vassilios Lougaris, Alessandro Plebani, Janine Altmueller, Henriette Kyrieleis, Vardiella Meiner, Helen McNeill, Kapil Bharti, Stanislas Lyonnet, Bernd Wollnik, Alexandra Henrion-Caude, Amina Berraho, Friedhelm Hildebrandt, Connie R. Bezzina, Brian P. Brooks, Abdelaziz Sefiani
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
Loss of the cadherin FAT1 has been associated with nephropathy and epithelial cell adhesion defects. Here, the authors report five families with a syndromic form of coloboma associated with homozygous frameshift variants in FAT1 and recapitulate the
Externí odkaz:
https://doaj.org/article/545b350bd5bd4581abda47c5716aaca3