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Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 1, p. 438, doi. 10.3390/ijms23010438
By:
- Verhagen, Judith M. A.;
- Burger, Joyce;
- Bekkers, Jos A.;
- den Dekker, Alexander T.;
- von der Thüsen, Jan H.;
- Zajec, Marina;
- Brüggenwirth, Hennie T.;
- van der Sterre, Marianne L. T.;
- van den Born, Myrthe;
- Luider, Theo M.;
- van IJcken, Wilfred F. J.;
- Wessels, Marja W.;
- Essers, Jeroen;
- Roos-Hesselink, Jolien W.;
- van der Pluijm, Ingrid;
- van de Laar, Ingrid M. B. H.;
- Brosens, Erwin
Publication type:
Article
Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 479, doi. 10.1002/ajmg.a.63047
By:
- Lauffer, Peter;
- Pals, Gerard;
- Zwinderman, Aeilko H.;
- Postema, Floor A. M.;
- Baars, Marieke J. H.;
- Dulfer, Eelco;
- Hilhorst‐Hofstee, Yvonne;
- Houweling, Arjan C.;
- Kempers, Marlies;
- Krapels, Ingrid P. C.;
- van de Laar, Ingrid M. B. H.;
- Loeys, Bart;
- Spaans, Alexander M. J.;
- Warnink‐Kavelaars, Jessica;
- de Waard, Vivian;
- Wit, Jan M.;
- Menke, Leonie A.
Publication type:
Article
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.
Published in:
Nature Genetics, 2011, v. 43, n. 2, p. 121, doi. 10.1038/ng.744
By:
- van de Laar, Ingrid M. B. H.;
- Oldenburg, Rogier A.;
- Pals, Gerard;
- Roos-Hesselink, Jolien W.;
- de Graaf, Bianca M.;
- Verhagen, Judith M. A.;
- Hoedemaekers, Yvonne M.;
- Willemsen, Rob;
- Severijnen, Lies-Anne;
- Venselaar, Hanka;
- Vriend, Gert;
- Pattynama, Peter M.;
- Collée, Margriet;
- Majoor-Krakauer, Danielle;
- Poldermans, Don;
- Frohn-Mulder, Ingrid M. E.;
- Micha, Dimitra;
- Timmermans, Janneke;
- Hilhorst-Hofstee, Yvonne;
- Bierma-Zeinstra, Sita M.
Publication type:
Article
Identifying new genetic causes of pediatric cardiomyopathy by exome sequencing and zebrafish modeling.
Published in:
Cardiology in the Young, 2022, v. 32, p. S3
By:
- Ruijmbeek, Claudine W. B.;
- Van Der Linde, Herma C.;
- Al Hassnan, Zuhair N.;
- Dalinghaus, Michiel;
- Van Den Bersselaar, Lisa M.;
- Van De Laar, Ingrid M. B. H.;
- Van Ham, Tjakko J.;
- Verhagen, Judith M. A.
Publication type:
Article
Identifying new genetic causes of pediatric cardiomyopathy by exome sequencing and zebrafish modeling.
Published in:
Cardiology in the Young, 2022, v. 32, n. S2, p. S3, doi. 10.1017/S1047951122001950
By:
- Ruijmbeek, Claudine W. B.;
- Van Der Linde, Herma C.;
- Al Hassnan, Zuhair N.;
- Dalinghaus, Michiel;
- Van Den Bersselaar, Lisa M.;
- Van De Laar, Ingrid M. B. H.;
- Van Ham, Tjakko J.;
- Verhagen, Judith M. A.
Publication type:
Article
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
Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation.
Published in:
Human Molecular Genetics, 2024, v. 33, n. 12, p. 1090, doi. 10.1093/hmg/ddae044
By:
- Wagenaar, Nathalie P de;
- Bersselaar, Lisa M van den;
- Odijk, Hanny J H M;
- Stefens, Sanne J M;
- Reinhardt, Dieter P;
- Roos-Hesselink, Jolien W;
- Kanaar, Roland;
- Verhagen, Judith M A;
- Brüggenwirth, Hennie T;
- Laar, Ingrid M B H van de;
- van der Pluijm, Ingrid;
- Essers, Jeroen
Publication type:
Article
European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants.
Published in:
2019
By:
- van de Laar, Ingrid M. B. H.;
- Arbustini, Eloisa;
- Loeys, Bart;
- Björck, Erik;
- Murphy, Lise;
- Groenink, Maarten;
- Kempers, Marlies;
- Timmermans, Janneke;
- Roos-Hesselink, Jolien;
- Benke, Kalman;
- Pepe, Guglielmina;
- Mulder, Barbara;
- Szabolcs, Zoltan;
- Teixidó-Turà, Gisela;
- Robert, Leema;
- Emmanuel, Yaso;
- Evangelista, Arturo;
- Pini, Alessandro;
- von Kodolitsch, Yskert;
- Jondeau, Guillaume
Publication type:
journal article

Found: 8