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Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Fergelot P, Van Belzen M, Van Gils J, Afenjar A, Armour CM, Arveiler B, Beets L, Burglen L, Busa T, Collet M, Deforges J, de Vries BB, Dominguez Garrido E, Dorison N, Dupont J, Francannet C, Garciá-Minaúr S, Gabau Vila E, Gebre-Medhin S, Gener Querol B, Geneviève D, Gérard M, Gervasini CG, Goldenberg A, Josifova D, Lachlan K, Maas S, Maranda B, Moilanen JS, Nordgren A, Parent P, Rankin J, Reardon W, Rio M, Roume J, Shaw A, Smigiel R, Sojo A, Solomon B, Stembalska A, Stumpel C, Suarez F, Terhal P, Thomas S, Touraine R, Verloes A, Vincent-Delorme C, Wincent J, Peters DJ, Bartsch O, Larizza L, Lacombe D, Hennekam RC. Fergelot P, et al. Among authors: hennekam rc. Am J Med Genet A. 2016 Dec;170(12):3069-3082. doi: 10.1002/ajmg.a.37940. Epub 2016 Sep 20. Am J Med Genet A. 2016. PMID: 27648933
Oculoauriculovertebral spectrum and cerebral anomalies.
Schrander-Stumpel CT, de Die-Smulders CE, Hennekam RC, Fryns JP, Bouckaert PX, Brouwer OF, da Costa JJ, Lommen EJ, Maaswinkel-Mooy PD. Schrander-Stumpel CT, et al. Among authors: hennekam rc. J Med Genet. 1992 May;29(5):326-31. doi: 10.1136/jmg.29.5.326. J Med Genet. 1992. PMID: 1583660 Free PMC article. Review.
Rubinstein-Taybi syndrome in The Netherlands.
Hennekam RC, Van Den Boogaard MJ, Sibbles BJ, Van Spijker HG. Hennekam RC, et al. Am J Med Genet Suppl. 1990;6:17-29. doi: 10.1002/ajmg.1320370604. Am J Med Genet Suppl. 1990. PMID: 2118773
Oral aspects of Rubinstein-Taybi syndrome.
Hennekam RC, Van Doorne JM. Hennekam RC, et al. Am J Med Genet Suppl. 1990;6:42-7. doi: 10.1002/ajmg.1320370607. Am J Med Genet Suppl. 1990. PMID: 2118777
Growth in the Rubinstein-Taybi syndrome.
Stevens CA, Hennekam RC, Blackburn BL. Stevens CA, et al. Among authors: hennekam rc. Am J Med Genet Suppl. 1990;6:51-5. doi: 10.1002/ajmg.1320370609. Am J Med Genet Suppl. 1990. PMID: 2118779
595 results