HuGE Literature Finder
Records 1-4
New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations.
Annals of human genetics 2015 Nov . ?izmárová M, Hlinková K, Bertok S, Kotnik P, Duba H C, Bertalan R, Polo?ková K, Koš?álová ?, Pribilincová Z, Hlavatá A, Kovács L, Ilen?íková |
Next-generation sequencing identifies rare variants associated with Noonan syndrome.
Proceedings of the National Academy of Sciences of the United States of America 2014 Aug 111 (31): 11473-8. Chen Peng-Chieh, Yin Jiani, Yu Hui-Wen, Yuan Tao, Fernandez Minerva, Yung Christina K, Trinh Quang M, Peltekova Vanya D, Reid Jeffrey G, Tworog-Dube Erica, Morgan Margaret B, Muzny Donna M, Stein Lincoln, McPherson John D, Roberts Amy E, Gibbs Richard A, Neel Benjamin G, Kucherlapati Ra |
Prevalence of sequence variants in the RAS-mitogen activated protein kinase signaling pathway in pre-adolescent children with hypertrophic cardiomyopathy.
Circulation. Cardiovascular genetics 2012 Jun 5 (3): 317-26. Kaski Juan Pablo, Syrris Petros, Shaw Adam, Alapi Krisztina Zuborne, Cordeddu Viviana, Esteban Maria Teresa Tome, Jenkins Sharon, Ashworth Michael, Hammond Peter, Tartaglia Marco, McKenna William J, Elliott Perry |
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.
European journal of human genetics : EJHG 2009 Jun 17 (6): 733-40. Dentici Maria Lisa, Sarkozy Anna, Pantaleoni Francesca, Carta Claudio, Lepri Francesca, Ferese Rosangela, Cordeddu Viviana, Martinelli Simone, Briuglia Silvana, Digilio Maria Cristina, Zampino Giuseppe, Tartaglia Marco, Dallapiccola Bru |
- Page last reviewed:Oct 1, 2020
- Page last updated:Jan 15, 2021
- Content source: