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Connective tissue disorders research Sign in to save
Papers per year
Papers 69
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Thoracic aortopathy in Marfan syndrome overlaps with mechanisms seen in bicuspid aortic valve disease2023 Frontiers in Cardiovascular Medicine article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Nimrat Grewal, Onur Baris Dolmaci, Evert K. Jansen, Robert J.M. Klautz, Antoine H.G. Driessen, Robert E. Poelmann
10citations -
Real-world evidence in achondroplasia: considerations for a standardized data set2023 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Yasemin Alanay, Klaus L. Mohnike, Ola Nilsson, Inês Alves, Moeenaldeen Dia Alsayed, Natasha M. Appelman‐Dijkstra, +19 more
8citations -
Growth of the aortic root in children and young adults with Marfan syndrome2022 Open Heart article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Elroy van Elsäcker, Arja Suzanne Vink, Leonie A. Menke, Gerard Pals, Regina Bökenkamp, Adrianus P.C.M. Backx, +3 more
8citations -
Abnormal aortic hemodynamics are associated with risk factors for aortic complications in patients with marfan syndrome2022 IJC Heart & Vasculature article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Pim van Ooij, Vivian de Waard, Lukas M. Gottwald, Roland R.J. van Kimmenade, Arthur J.H.A. Scholte, Michael G. Dickinson, +4 more
7citations -
Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco2023 Bone Reports article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Larissa Mattern, Matthias Begemann, Heide Delbrück, Petra Holschbach, Silvia Schröder, Ingo Kurth, +1 more
6citations -
The Role of the European Reference Network for Rare Bone Diseases (ERN BOND) and European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) in the Governance of the Management of Rare Bone and Mineral Diseases2024 Calcified Tissue International article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Ana Luisa Priego Zurita, Manila Boarini, Lorena Casareto, М. С. Черенько, Marina Mordenti, Alice Moroni, +3 more
6citations -
Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships2022 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Peter Lauffer, Gerard Pals, Aeilko Having Zwinderman, Floor A.M. Postema, Marieke J.H. Baars, Eelco Dulfer, +11 more
6citations -
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Lisa M. van den Bersselaar, Judith M. A. Verhagen, Jos A. Bekkers, Marlies J. E. Kempers, Arjan C. Houweling, Marieke J.H. Baars, +13 more
6citations -
Distribution and Maturity of Medial Collagen Fibers in Thoracoabdominal Post-Dissection Aortic Aneurysms: A Comparative Study of Marfan and Non-Marfan Patients2024 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Panagiotis Doukas, Bernhard Hruschka, Cathryn Bassett, Eva Miriam Buhl, Florian Simon, Pepijn J. M. H. Saraber, +4 more
5citations -
Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3‐generation family2022 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Saskia Koene, Floortje Klerx‐Melis, Arno A.W. Roest, Maarten C. Kleijwegt, Marianne Bootsma, Monique C. Haak, +4 more
4citations -
Three-dimensional distensibility of the aorta derived from four-dimensional cardiovascular magnetic resonance in young and middle-aged adults with Marfan syndrome2025 Journal of Cardiovascular Magnetic Resonance article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Daan Bosshardt, Renske Merton, Bibi A Schreurs, Roland R.J. van Kimmenade, Aart Johannes Nederveen, Moniek G.P.J. Cox, +7 more
3citations -
The Effect of Resveratrol on Aortic Function in Patients with Marfan Syndrome – Rationale and Design of the Resvcue Marfan Trial.2021 Research Square preprint Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Pim van Ooij, Arthur J.H.A. Scholte, Maarten P. van den Berg, Michael G. Dickinson, Roland R.J. van Kimmenade, Floor Bennebroek Evertsz, +4 more
3citations -
Risk for acquired coronary artery disease in genetic vs. congenital thoracic aortopathy2023 Frontiers in Cardiovascular Medicine article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Onur Baris Dolmaci, Tugay Ayyildiz, Robert E. Poelmann, Antoine H.G. Driessen, David R. Koolbergen, Robert J.M. Klautz, +2 more
3citations -
A Collagen10a1 mutation disrupts cell polarity in a medaka model for metaphyseal chondrodysplasia type Schmid2024 iScience article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Wen Hui Tan, Martin Rücklin, Daria Larionova, Tran Bich Ngoc, Bertie Joan van Heuven, Federica Marone, +2 more
3citations -
Aortic Function in a Longitudinal 4D Flow MRI Study in Marfan Syndrome Patients Receiving Resveratrol2025 Journal of Magnetic Resonance Imaging article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Daan Bosshardt, Eric Mathew Schrauben, Roland R.J. van Kimmenade, Arthur J.H.A. Scholte, Moniek G.P.J. Cox, Daniëlle Robbers‐Visser, +6 more
3citations -
Zoledronate Therapy in Osteogenesis Imperfecta: Perspectives in Indonesia Tertiary Hospital2024 Journal of Bone Metabolism article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Tri Wahyu Martanto, Aliefio Japamadisaw, Dian Nurhayati, Rob G. H. H. Nelissen
2citations -
A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II2024 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Mackenna E. Schouw, Claudia A. L. Ruivenkamp, Tamara T. Koopmann, Gijs W.E. Santen, Peter G. J. Nikkels, Karin van der Tuin
2citations -
High-fat diet does not exacerbate aortic pathology and enhances metabolic function in Marfan syndrome Fbn1C1041G/+ mice2025 Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Carmen Yap, Myrthe E Hoogeland, Iris Bakker, Roelof Ottenhoff, Maria P. Clemente-Olivo, Sander Kooijman, +3 more
2citations
Most active Aachen authors
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Arthur J.H.A. Scholte 7,697 citations overall14 papers
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Yvonne Hilhorst‐Hofstee 6,532 citations overall9 papers
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Natasha M. Appelman‐Dijkstra 5,738 citations overall7 papers
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Andrea Maier 341 citations overall4 papers
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Alexander Gombert 1,560 citations overall3 papers
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Christian Uhl 1,081 citations overall3 papers
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Nimrat Grewal 718 citations overall3 papers
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Ana Luisa Priego Zurita 43 citations overall3 papers
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Cathryn Bassett 14 citations overall3 papers
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Bernhard Hruschka 8 citations overall3 papers
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Andrea Britta Maier 32,986 citations overall2 papers
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Marco Roos 23,445 citations overall2 papers
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Jan Maarten Wit 19,263 citations overall2 papers
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Robert J.M. Klautz 15,103 citations overall2 papers
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Robert E. Poelmann 14,194 citations overall2 papers