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Connective tissue disorders research Sign in to save
Papers per year
Papers 69
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Long-term clinical outcomes of losartan in patients with Marfan syndrome: follow-up of the multicentre randomized controlled COMPARE trial2020 European Heart Journal article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Reza Indrakusuma, Hamid Jalalzadeh, Ron Balm, Janneke Timmermans, Arthur J.H.A. Scholte, Maarten P. van den Berg, +4 more
84citations -
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR22020 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Fleur S van Dijk, Oliver Semler, Julia Etich, Juan Andrés Jiménez-Estrada, Nathalie Bravenboer, Lauria Claeys, +31 more
65citations -
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)2021 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, Delfien Syx, Tohru Sonoda, Andreas Janecke, +34 more
43citations -
The added value of a European Reference Network on rare and complex connective tissue and musculoskeletal diseases: insights after the first 5 years of the ERN ReCONNET2022 Clinical and Experimental Rheumatology article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Rosaria Talarico, Silvia Aguilera, Tobias Alexander, Zahir Amoura, Laurent Arnaud, Tadej Avčin, +63 more
33citations -
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients2024 Circulation Genomic and Precision Medicine article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Serwet Demirdas, Lisa M. van den Bersselaar, Rosan L. Lechner, Suzanne Alsters, Marieke J.H. Baars, Annette F. Baas, +18 more
32citations -
Skin biopsy reveals generalized small fibre neuropathy in hypermobile Ehlers–Danlos syndromes2022 European Journal of Neurology article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Denver Igharo, Joana C. Thiel, Roman Rolke, Merve Akkaya, Joachim Weis, István Katona, +2 more
31citations -
Arm Span and Its Relation to Height in a 2- to 17-Year-Old Reference Population and Heterozygous Carriers of ACAN Variants2020 Hormone Research in Paediatrics article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Willem J.M. Gerver, Alexandra Gkourogianni, Andrew Nahum Dauber, Ola Nilsson, Jan Maarten Wit
30citations -
Heritable Connective Tissue Disorders in Childhood: Increased Fatigue, Pain, Disability and Decreased General Health2021 Genes article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Jessica Warnink‐Kavelaars, Lisanne E. de Koning, Lies Rombaut, Mattijs W. Alsem, Leonie A. Menke, Jaap Oosterlaan, +2 more
26citations -
An exploratory open-label multicentre phase I/II trial evaluating the safety and efficacy of postnatal or prenatal and postnatal administration of allogeneic expanded fetal mesenchymal stem cells for the treatment of severe osteogenesis imperfecta in infants and fetuses: the BOOSTB4 trial protocol2024 BMJ Open article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Eva Åström, Lyn S. Chitty, Belinda Crowe, Anna Louise David, Catherine J DeVile, Annabelle Forsmark, +17 more
25citations -
Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient2020 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Luisa Marsili, Eline Overwater, Nadine Hanna, Geneviève Baujat, Marieke J.H. Baars, Cathérine Boileau, +19 more
24citations -
Ascending aorta curvature and flow displacement are associated with accelerated aortic growth at long-term follow-up: A MRI study in Marfan and thoracic aortic aneurysm patients2021 IJC Heart & Vasculature article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Max J. van Hout, Joe F. Juffermans, Hildo J. Lamb, E.S.J. Kröner, Martin Jan Schalij, Ilona A. Dekkers, +2 more
20citations -
The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases2020 Genes article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Camille Kumps, Belinda Campos‐Xavier, Yvonne Hilhorst‐Hofstee, Carlo Marcelis, MARIUS E. KRAENZLIN, Nicole Fleischer, +2 more
19citations -
Genome-wide methylation patterns in Marfan syndrome2021 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Maarten Groenink, Maarten P. van den Berg, Janneke Timmermans, Arthur J.H.A. Scholte, Barbara J.M. Mulder, Aeilko Having Zwinderman, +1 more
18citations -
A cross‐sectional study on fatigue, anxiety, and symptoms of depression and their relation with medical status in adult patients with M arfan syndrome. Psychological consequences in M arfan syndrome2022 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Kim Graaumans, Maarten Groenink, Aeilko Having Zwinderman, Roland R.J. van Kimmenade, Arthur J.H.A. Scholte, Maarten P. van den Berg, +6 more
16citations -
Aortic distensibility in Marfan syndrome: a potential predictor of aortic events?2021 Open Heart article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Vivian de Waard, Janneke Timmermans, Arthur J.H.A. Scholte, Maarten P. van den Berg, Aeilko Having Zwinderman, Barbara J.M. Mulder, +1 more
14citations -
Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature2022 Journal of the Endocrine Society article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Peter Lauffer, Eveline Boudin, Daniëlle C M van der Kaay, Saskia Koene, Arie van Haeringen, Vera van Tellingen, +5 more
11citations -
Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions2021 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
M K Javaid, Marina Mordenti, Manila Boarini, Luca Sangiorgi, Ingunn Westerheim, Inês Alves, +3 more
11citations -
Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases2023 European Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Ana Luisa Priego Zurita, Corinna Grasemann, Manila Boarini, Roland D Chapurlat, Marina Mordenti, M K Javaid, +1 more
11citations -
Effects of resveratrol on aortic growth in patients with Marfan syndrome: a single-arm open-label multicentre trial2024 Heart article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Daan Bosshardt, Eric Mathew Schrauben, Renske Merton, Roland R L van Kimmenade, Arthur J.H.A. Scholte, Michael G. Dickinson, +7 more
10citations
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