European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

Authors: Ingrid M. B. H. van de Laar, Eloisa Arbustini, Bart Loeys, Erik Björck, Lise Murphy, Maarten Groenink, Marlies Kempers, Janneke Timmermans, Jolien Roos-Hesselink, Kalman Benke, Guglielmina Pepe, Barbara Mulder, Zoltan Szabolcs, Gisela Teixidó-Turà, Leema Robert, Yaso Emmanuel, Arturo Evangelista, Alessandro Pini, Yskert von Kodolitsch, Guillaume Jondeau, Julie De Backer

Source: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)

Subject Terms: Thoracic aortic aneurysm, Aortic disease, Dissection, Genetics, Expert testimony, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1186-2; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/28a3f413457f4d019b78d4411ab50cb3

Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy

Authors: Jotte Rodrigues Bento, Candice Feben, Marlies Kempers, Maartje vanRij, Mallory Woiski, Koenraad Devriendt, Luc De Catte, Marcella Baldewijns, Maaike Alaerts, Josephina Meester, Aline Verstraeten, Willy Hendson, Bart Loeys

Source: Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)

Subject Terms: channelopathy, KCNMA1 loss‐of‐function, Liang‐Wang syndrome, thoracic aortic aneurysm, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/0ca074ff445a4ee0bbde97fd27f87418

Corrigendum: Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor

Authors: Elisabeth Gillis, Ajay A. Kumar, Ilse Luyckx, Christoph Preuss, Elyssa Cannaerts, Gerarda van de Beek, Björn Wieschendorf, Maaike Alaerts, Nikhita Bolar, Geert Vandeweyer, Josephina Meester, Florian Wünnemann, Russell A. Gould, Rustam Zhurayev, Dmytro Zerbino, Salah A. Mohamed, Seema Mital, Luc Mertens, Hanna M. Björck, Anders Franco-Cereceda, Andrew S. McCallion, Lut Van Laer, Judith M. A. Verhagen, Ingrid M. B. H. van de Laar, Marja W. Wessels, Emmanuel Messas, Guillaume Goudot, Michaela Nemcikova, Alice Krebsova, Marlies Kempers, Simone Salemink, Toon Duijnhouwer, Xavier Jeunemaitre, Juliette Albuisson, Per Eriksson, Gregor Andelfinger, Harry C. Dietz, Aline Verstraeten, Bart L. Loeys, Mibava Leducq Consortium

Source: Frontiers in Physiology, Vol 8 (2017)

Subject Terms: bicuspid aortic valve, thoracic aortic aneurysm, SMAD6, targeted gene panel, variant burden test, Physiology, QP1-981

File Description: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fphys.2017.00730/full; https://doaj.org/toc/1664-042X

Access URL: https://doaj.org/article/00bba679614b4010927e1186b126fa61

Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor

Authors: Elisabeth Gillis, Ajay A. Kumar, Ilse Luyckx, Christoph Preuss, Elyssa Cannaerts, Gerarda van de Beek, Björn Wieschendorf, Maaike Alaerts, Nikhita Bolar, Geert Vandeweyer, Josephina Meester, Florian Wünnemann, Russell A. Gould, Rustam Zhurayev, Dmytro Zerbino, Salah A. Mohamed, Seema Mital, Luc Mertens, Hanna M. Björck, Anders Franco-Cereceda, Andrew S. McCallion, Lut Van Laer, Judith M. A. Verhagen, Ingrid M. B. H. van de Laar, Marja W. Wessels, Emmanuel Messas, Guillaume Goudot, Michaela Nemcikova, Alice Krebsova, Marlies Kempers, Simone Salemink, Toon Duijnhouwer, Xavier Jeunemaitre, Juliette Albuisson, Per Eriksson, Gregor Andelfinger, Harry C. Dietz, Aline Verstraeten, Bart L. Loeys, Mibava Leducq Consortium

Source: Frontiers in Physiology, Vol 8 (2017)

Subject Terms: bicuspid aortic valve, thoracic aortic aneurysm, SMAD6, targeted gene panel, variant burden test, Physiology, QP1-981

File Description: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fphys.2017.00400/full; https://doaj.org/toc/1664-042X

Access URL: https://doaj.org/article/eaa6fdcd9b7a4bbd9409b17748a5090d

Inflammation aggravates disease severity in Marfan syndrome patients.

Authors: Teodora Radonic, Piet de Witte, Maarten Groenink, Vivian de Waard, Rene Lutter, Marco van Eijk, Marnix Jansen, Janneke Timmermans, Marlies Kempers, Arthur J Scholte, Yvonne Hilhorst-Hofstee, Maarten P van den Berg, J Peter van Tintelen, Gerard Pals, Marieke J H Baars, Barbara J M Mulder, Aeilko H Zwinderman

Source: PLoS ONE, Vol 7, Iss 3, p e32963 (2012)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3316543?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/6655a7b212f141e3ace37f6a9c612946