Connective tissue disorders research

TopicLeading institutions, researchers & key papers

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.

209

Works

IDs:OpenAlex

How has Connective tissue disorders research's publication output changed over time?

ScholarIQpublication output · 1999–2019

Output grew0% over the shown period — from 1 works in 1999 to 1 in 2019.

199920012005201020112014201520172019

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

S4210171603. 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

S137905309. 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

S137905309. 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