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First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.
Rauen KA, Alsaegh A, Ben-Shachar S, Berman Y, Blakeley J, Cordeiro I, Elgersma Y, Evans DG, Fisher MJ, Frayling IM, George J, Huson SM, Kerr B, Khire U, Korf B, Legius E, Messiaen L, van Minkelen R, Nampoothiri S, Ngeow J, Parada LF, Phadke S, Pillai A, Plotkin SR, Puri R, Raji A, Ramesh V, Ratner N, Shankar SP, Sharda S, Tambe A, Vikkula M, Widemann BC, Wolkenstein P, Upadhyaya M. Rauen KA, et al. Among authors: vikkula m. Am J Med Genet A. 2019 Jun;179(6):1091-1097. doi: 10.1002/ajmg.a.61125. Epub 2019 Mar 25. Am J Med Genet A. 2019. PMID: 30908877 Free PMC article.
Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues.
Rauen KA, Huson SM, Burkitt-Wright E, Evans DG, Farschtschi S, Ferner RE, Gutmann DH, Hanemann CO, Kerr B, Legius E, Parada LF, Patton M, Peltonen J, Ratner N, Riccardi VM, van der Vaart T, Vikkula M, Viskochil DH, Zenker M, Upadhyaya M. Rauen KA, et al. Among authors: vikkula m. Am J Med Genet A. 2015 Jan;167A(1):1-10. doi: 10.1002/ajmg.a.36793. Epub 2014 Nov 12. Am J Med Genet A. 2015. PMID: 25393061 Free PMC article.
EPHB4 mutation causes adult and adolescent-onset primary lymphedema.
Greene AK, Brouillard P, Sudduth CL, Smits PJ, Konczyk DJ, Vikkula M. Greene AK, et al. Among authors: vikkula m. Am J Med Genet A. 2021 Dec;185(12):3810-3813. doi: 10.1002/ajmg.a.62416. Epub 2021 Jul 7. Am J Med Genet A. 2021. PMID: 34231312
Cystathionine β-synthase genetic variant rs2124459 is associated with a reduced risk of cleft palate in French and Belgian populations.
Goffinet L, Oussalah A, Guéant-Rodriguez RM, Chery C, Basha M, Avogbe PH, Josse T, Jeannesson E, Rouyer P, Flayac J, Gerard P, Le Touze A, Bonin-Goga B, Goga D, Simon E, Feillet F, Vikkula M, Guéant JL. Goffinet L, et al. Among authors: vikkula m. J Med Genet. 2016 Dec;53(12):828-834. doi: 10.1136/jmedgenet-2016-104111. Epub 2016 Aug 17. J Med Genet. 2016. PMID: 27535090
257 results