Zobrazeno 1 - 10
of 103
pro vyhledávání: '"Alex V. Postma"'
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
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:
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
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:
Irma van de Beek, Iris E Glykofridis, Jan C Oosterwijk, Peter C van den Akker, Gilles F H Diercks, Maria C Bolling, Quinten Waisfisz, Arjen R Mensenkamp, Jesper A Balk, Rob Zwart, Alex V Postma, Hanne E J Meijers-Heijboer, R Jeroen A van Moorselaar, Rob M F Wolthuis, Arjan C Houweling
Publikováno v:
van de Beek, I, Glykofridis, I E, Oosterwijk, J C, van den Akker, P C, Diercks, G F H, Bolling, M C, Waisfisz, Q, Mensenkamp, A R, Balk, J A, Zwart, R, Postma, A V, Meijers-Heijboer, H E J, van Moorselaar, R J A, Wolthuis, R M F & Houweling, A C 2023, ' PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis ', Human Molecular Genetics, vol. 32, no. 7, pp. 1223-1235 . https://doi.org/10.1093/hmg/ddac288
Human Molecular Genetics, 32, 1223-1235
Human Molecular Genetics, 32(7), 1223-1235. Oxford University Press
Human molecular genetics, 32(7), 1223-1235. Oxford University Press
Human Molecular Genetics, 32, 7, pp. 1223-1235
Human Molecular Genetics, 32, 1223-1235
Human Molecular Genetics, 32(7), 1223-1235. Oxford University Press
Human molecular genetics, 32(7), 1223-1235. Oxford University Press
Human Molecular Genetics, 32, 7, pp. 1223-1235
Contains fulltext : 291515.pdf (Publisher’s version ) (Open Access) Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder characterized by fibrofolliculomas, pulmonary cysts, pneumothoraces and renal cell carcinomas. Here, we reveal a no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19bee29415900ea2982a28cc3469f7db
https://research.vumc.nl/en/publications/d755d70a-4c1f-4979-ab6b-f902c4942091
https://research.vumc.nl/en/publications/d755d70a-4c1f-4979-ab6b-f902c4942091
Autor:
Irma van de Beek, Iris E. Glykofridis, Michael W. T. Tanck, Monique N. H. Luijten, Theo M. Starink, Jesper A. Balk, Paul C. Johannesma, Eric Hennekam, Maurice J. B. van den Hoff, Quinn D. Gunst, Johan J. P. Gille, Abeltje M. Polstra, Pieter E. Postmus, Maurice A. M. van Steensel, Alex V. Postma, Rob M. F. Wolthuis, Fred H. Menko, Arjan C. Houweling, Quinten Waisfisz
Publikováno v:
van de Beek, I, Glykofridis, I E, Tanck, M W T, Luijten, M N H, Starink, T M, Balk, J A, Johannesma, P C, Hennekam, E, van den Hoff, M J B, Gunst, Q D, Gille, J J P, Polstra, A M, Postmus, P E, van Steensel, M A M, Postma, A V, Wolthuis, R M F, Menko, F H, Houweling, A C & Waisfisz, Q 2023, ' Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene ', Journal of human genetics, vol. 68, no. 4, pp. 273-279 . https://doi.org/10.1038/s10038-022-01113-1
Journal of human genetics. Nature Publishing Group
Journal of human genetics, 68(4), 273-279. Nature Publishing Group
Journal of human genetics. Nature Publishing Group
Journal of human genetics, 68(4), 273-279. Nature Publishing Group
Previously, we reported a series of families presenting with trichodiscomas, inherited in an autosomal dominant pattern. The phenotype was named familial multiple discoid fibromas (FMDF). The genetic cause of FMDF remained unknown so far. Trichodisco
Autor:
Antoinette F. van Ouwerkerk, Fernanda M. Bosada, Karel van Duijvenboden, Arjan C. Houweling, Koen T. Scholman, Vincent Wakker, Cornelis P. Allaart, Jae-Sun Uhm, Inge B. Mathijssen, Ton Baartscheer, Alex V. Postma, Phil Barnett, Arie O. Verkerk, Bastiaan J. Boukens, Vincent M. Christoffels
Publikováno v:
Circulation, 145(8), 606-619. Lippincott Williams and Wilkins
Circulation
Circulation, 2022, 145 (8), pp.606-619. ⟨10.1161/CIRCULATIONAHA.121.054347⟩
van Ouwerkerk, A F, Bosada, F M, van Duijvenboden, K, Houweling, A C, Scholman, K T, Wakker, V, Allaart, C P, Uhm, J-S, Mathijssen, I B, Baartscheer, T, Postma, A V, Barnett, P, Verkerk, A O, Boukens, B J & Christoffels, V M 2022, ' Patient-specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction ', Circulation, vol. 145, no. 8, pp. 606-619 . https://doi.org/10.1161/CIRCULATIONAHA.121.054347
Circulation
Circulation, 2022, 145 (8), pp.606-619. ⟨10.1161/CIRCULATIONAHA.121.054347⟩
van Ouwerkerk, A F, Bosada, F M, van Duijvenboden, K, Houweling, A C, Scholman, K T, Wakker, V, Allaart, C P, Uhm, J-S, Mathijssen, I B, Baartscheer, T, Postma, A V, Barnett, P, Verkerk, A O, Boukens, B J & Christoffels, V M 2022, ' Patient-specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction ', Circulation, vol. 145, no. 8, pp. 606-619 . https://doi.org/10.1161/CIRCULATIONAHA.121.054347
Background: The pathogenic missense variant p.G125R in TBX5 (T-box transcription factor 5) causes Holt–Oram syndrome (also known as hand–heart syndrome) and early onset of atrial fibrillation. Revealing how an altered key developmental transcript