HuGE Literature Finder
Records 1-5
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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 |
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Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.
Human molecular genetics 2014 Aug 23 (16): 4315-27. Flex Elisabetta, Jaiswal Mamta, Pantaleoni Francesca, Martinelli Simone, Strullu Marion, Fansa Eyad K, Caye Aurélie, De Luca Alessandro, Lepri Francesca, Dvorsky Radovan, Pannone Luca, Paolacci Stefano, Zhang Si-Cai, Fodale Valentina, Bocchinfuso Gianfranco, Rossi Cesare, Burkitt-Wright Emma M M, Farrotti Andrea, Stellacci Emilia, Cecchetti Serena, Ferese Rosangela, Bottero Lisabianca, Castro Silvana, Fenneteau Odile, Brethon Benoît, Sanchez Massimo, Roberts Amy E, Yntema Helger G, Van Der Burgt Ineke, Cianci Paola, Bondeson Marie-Louise, Cristina Digilio Maria, Zampino Giuseppe, Kerr Bronwyn, Aoki Yoko, Loh Mignon L, Palleschi Antonio, Di Schiavi Elia, Carè Alessandra, Selicorni Angelo, Dallapiccola Bruno, Cirstea Ion C, Stella Lorenzo, Zenker Martin, Gelb Bruce D, Cavé Hélène, Ahmadian Mohammad R, Tartaglia Mar |
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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 |
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Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.
The Journal of pediatrics 2011 Dec 159 (6): 1029-35. Lee Beom Hee, Kim Jae-Min, Jin Hye Young, Kim Gu-Hwan, Choi Jin-Ho, Yoo Han-Wo |
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Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis.
European journal of medical genetics 0 53 (3): 117-21. Nyström Anna-Maja, Ekvall Sara, Thuresson Ann-Charlotte, Denayer Ellen, Legius Eric, Kamali-Moghaddam Masood, Westermark Bengt, Annerén Göran, Bondeson Marie-Loui |
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- Page last updated:Oct 28, 2020
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