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Connective tissue disorders research

TopicLeading institutions, researchers & key papers

Connective tissue disorders research is a topic indexed in ScholarIQ from OpenAlex.

What is known about Connective tissue disorders research?

ScholarIQrecord summary

This cluster of papers explores genetic and molecular aspects of various connective tissue disorders, including Marfan syndrome, Ehlers-Danlos syndrome, and Osteogenesis Imperfecta. It delves into mutations in genes encoding proteins like TGF-ß receptor, elastin, fibrillin-1, and collagen, as well as their implications in aortic aneurysms and skeletal abnormalities.

How many works does Connective tissue disorders research have?

ScholarIQindexed works

Connective tissue disorders research has 209 works in the ScholarIQ index. The count is the OpenAlex total, not the number of papers listed on this page.

What is the OpenAlex record for Connective tissue disorders research?

ScholarIQopenalex

The OpenAlex for Connective tissue disorders research is on the source record.

What are the most-cited papers on Connective tissue disorders research?

ScholarIQmost cited works
The 2017 international classification of the Ehlers–Danlos syndromes
Fransiska Malfait, Clair A. Francomano, Peter H. Byers, John W. Belmont, Britta Berglund, James H. Black, Lara Bloom, Jessica Bowen, Angela F. Brady, Nigel Burrows, Marco Castori, Helen Cohen, Marina Colombi, Serwet Demirdas, Julie De Backer, Anne De Paepe, Sylvie Fournel‐Gigleux, Michael Frank, Neeti Ghali, Cecilia Giunta, Rodney Grahame, Alan J. Hakim, Xavier Jeunemaı̂tre, Diana Johnson, Birgit Juul‐Kristensen, Ines Kapferer‐Seebacher, Hanadi Kazkaz, Tomoki Kosho, Mark E. Lavallee, Howard P. Levy, Roberto Mendoza‐Londono, Melanie Pepin, F. Michael Pope, Eyal Reinstein, Leema Robert, Marianne Rohrbach, Lynn Sanders, Glenda Sobey, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Nigel Wheeldon, Johannes Zschocke, Brad T. Tinkle
American Journal of Medical Genetics Part C Seminars in Medical Genetics. 20171,912 CitationsOPEN ACCESS
Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta
Edwin M. Horwitz, Darwin J. Prockop, Lorraine A. Fitzpatrick, Winston Koo, Patricia Gordon, Michael D. Neel, Michael D. Sussman, Paul J. Orchard, Jeffrey C. Marx, Reed E. Pyeritz, Malcolm K. Brenner
Nature Medicine. 19991,827 Citations
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
Anne Rovelet‐Lecrux, Didier Hannequin, Grégory Raux, Nathalie Le Meur, Annie Laquerrière, Anne Vital, Cécile Dumanchin, Sébastien Feuillette, Alexis Brice, Martine Vercelletto, Frédéric Dubas, Thierry Frébourg, Dominique Campion
Nature Genetics. 20051,258 Citations
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
Ingrid M.B.H. van de Laar, Rogier A. Oldenburg, Gerard Pals, Jolien W. Roos‐Hesselink, Bianca M. de Graaf, Judith M.A. Verhagen, Yvonne M. Hoedemaekers, Rob Willemsen, Lies‐Anne Severijnen, Hanka Venselaar, Gert Vriend, Peter M. T. Pattynama, Margriet Collée, Daniëlle Majoor‐Krakauer, Don Poldermans, Ingrid M.E. Frohn-Mulder, Dimitra Micha, Janneke Timmermans, Yvonne Hilhorst‐Hofstee, Sita Bierma‐Zeinstra, Patrick J. Willems, Johan M. Kros, E.H. Oei, Ben A. Oostra, Marja W. Wessels, Aida M. Bertoli‐Avella
Nature Genetics. 2011677 Citations
Nosology and classification of genetic skeletal disorders: 2019 revision
Geert Mortier, Daniel H. Cohn, Valérie Cormier‐Daire, Christine M Hall, Deborah Krakow, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Luca Sangiorgi, Ravi Savarirayan, David Sillence, Andrea Superti‐Furga, Sheila Unger, Matthew L. Warman
American Journal of Medical Genetics Part A. 2019617 Citations

Where is Connective tissue disorders research research published, and who funds it?

ScholarIQvenues & funding sources

TOP FUNDERS

National Science Foundation—
NIH—
Wellcome Trust—
European Research Council—
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How much of the research on Connective tissue disorders research is open access?

ScholarIQopen access share
47%OPEN ACCESS
Gold
0%
Green
7%
Hybrid
7%
Bronze
33%
Closed
53%

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