PICO Portalanswers from OpenAlex
Congenital limb and hand anomalies
TopicLeading institutions, researchers & key papers
Congenital limb and hand anomalies is a topic indexed in PICO Portal from OpenAlex.
What is known about Congenital limb and hand anomalies?
PICO Portalrecord summary
This cluster of papers focuses on genetic and developmental studies of congenital limb anomalies, including polydactyly, syndactyly, and other malformations. It explores the genetic heterogeneity, mutations in CBP and EP300 genes, disruptions in Shh regulatory elements, upper extremity development, embryology, various classification systems, and epidemiological aspects related to limb anomalies.
How many works does Congenital limb and hand anomalies have?
PICO Portalindexed works
Congenital limb and hand anomalies has 35 works in the PICO Portal index. The count is the OpenAlex total, not the number of papers listed on this page.
What is the OpenAlex record for Congenital limb and hand anomalies?
PICO Portalopenalex
The OpenAlex for Congenital limb and hand anomalies is on the source record.
What are the most-cited papers on Congenital limb and hand anomalies?
PICO Portalmost cited works
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
Fred Petrif, Rachel H. Giles, Hans G. Dauwerse, Jasper J. Saris, Raoul C. M. Hennekam, Mitsuo Masuno, Niels Tommerup, Gert‐Jan B. van Ommen, Richard H. Goodman, Dorien J.M. Peters, Martijn H. Breuning
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease
Jeroen Roelfsema, Stefan J. White, Yavuz Ariyürek, Deborah Bartholdi, Dunja Niedrist, Francesco Papadia, Carlos A. Bacino, Johan T. den Dunnen, Gert‐Jan B. van Ommen, Martijn H. Breuning, Raoul C. M. Hennekam, Dorien J.M. Peters
LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome
Yun Li, Barbara Pawlik, Nursel Elçioğlu, Mona Aglan, Hülya Kayserili, Gökhan Yigit, E. Ferda Perçin, Frances R. Goodman, Gudrun Nürnberg, Asım Cenani, Jill Urquhart, Boi-Dinh Chung, Samira Ismail, Khalda Amr, Ayça Dilruba Aslanger, Christian Becker, Christian Netzer, Peter Scambler, Wafaa Eyaid, Hanan Hamamy, Jill Clayton‐Smith, Raoul C. M. Hennekam, Peter Nürnberg, Joachim Herz, Samia A. Temtamy, Bernd Wollnik
Rubinstein‐Taybi syndrome medical guidelines
Susan Wiley, Susan Swayne, Jack H. Rubinstein, Nancy Lanphear, Cathy A. Stevens
Rubinstein–Taybi syndrome in children with tethered spinal cord
Tomoko Tanaka, Benjamin Ling, Jack H. Rubinstein, Kerry R. Crone
Where is Congenital limb and hand anomalies research published, and who funds it?
PICO Portalvenues & funding sources
TOP JOURNALS
TOP FUNDERS
National Science Foundation—
NIH—
Wellcome Trust—
European Research Council—
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How much of the research on Congenital limb and hand anomalies is open access?
PICO Portalopen access share
44%OPEN ACCESS