Rubinstein JH, Taybi H: Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Child. 1963, 105: 588-608.
Article
CAS
PubMed
Google Scholar
Hennekam RC, Van Doorne JM: Oral aspects of Rubinstein-Taybi syndrome. Am J Med Genet Suppl. 1990, 6: 42-47.
CAS
PubMed
Google Scholar
Goodfellow A, Emmerson RW, Calvert HT: Rubinstein-Taybi syndrome and spontaneous keloids. Clin Exp Dermatol. 1980, 5 (3): 369-370. 10.1111/j.1365-2230.1980.tb01718.x.
Article
CAS
PubMed
Google Scholar
Hennekam RC, Baselier AC, Beyaert E, Bos A, Blok JB, Jansma HB, Thorbecke-Nilsen VV, Veerman H: Psychological and speech studies in Rubinstein-Taybi syndrome. Am J Ment Retard. 1992, 96: 645-660.
CAS
PubMed
Google Scholar
Robson MJ, Brown LM, Sharrard WJ: Cervical spondylolisthesis and other skeletal abnormalities in Rubinstein-Taybi syndrome. J Bone Joint Surg Br. 1980, 62: 297-299.
CAS
PubMed
Google Scholar
Parsley L, Bellus G, Handler M, Tsai AC: Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx. Am J Med Genet A. 2011, 155A: 2766-2770.
Article
PubMed
Google Scholar
Kim SH, Lim BC, Chae JH, Kim KJ, Hwang YS: A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation. Korean J Pediatr. 2010, 53: 718-721. 10.3345/kjp.2010.53.6.718. Kim SH, Lim BC, Chae JH, Kim KJ, Hwang YS, Epub 2010 Jun 23
Article
CAS
PubMed
PubMed Central
Google Scholar
Wójcik C, Volz K, Ranola M, Kitch K, Karim T, O’Neil J, Smith J, Torres-Martinez W: Rubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene syndrome?. Am J Med Genet A. 2010, 152A: 479-483. 10.1002/ajmg.a.33303.
Article
PubMed
Google Scholar
Imaizumi K, Kuroki Y: Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3). Am J Med Genet. 1991, 38: 636-639. 10.1002/ajmg.1320380430.
Article
CAS
PubMed
Google Scholar
Tommerup N, van der Hagen CB, Heiberg A: Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3). Am J Med Genet. 1992, 44: 237-241. 10.1002/ajmg.1320440223.
Article
CAS
PubMed
Google Scholar
Lacombe D, Saura R, Taine L, Battin J: Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3. Am J Med Genet. 1992, 44: 126-128. 10.1002/ajmg.1320440134.
Article
CAS
PubMed
Google Scholar
Hennekam RC, Lommen EJ, Strengers JL, Van Spijker HG, Jansen-Kokx TM: Rubinstein-Taybi syndrome in a mother and son. Eur J Pediatr. 1989, 148: 439-441. 10.1007/BF00595907.
Article
CAS
PubMed
Google Scholar
Marion RW, Garcia DM, Karasik JB: Apparent dominant transmission of the Rubinstein-Taybi syndrome. Am J Med Genet. 1993, 46: 284-287. 10.1002/ajmg.1320460309.
Article
CAS
PubMed
Google Scholar
Roelfsema JH, White SJ, Ariyürek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen GJ, Breuning MH, Hennekam RC, Peters DJ: Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet. 2005, 76: 572-580. 10.1086/429130.
Article
CAS
PubMed
PubMed Central
Google Scholar
Hennekam RC: Rubinstein-Taybi syndrome. Eur J Hum Genet. 2006, 14: 981-985. 10.1038/sj.ejhg.5201594.
Article
CAS
PubMed
Google Scholar
Petrij F, Dauwerse HG, Blough RI, Giles RH, van der Smagt JJ, Wallerstein R, Maaswinkel-Mooy PD, van Karnebeek CD, van Ommen GJ, van Haeringen A, Rubinstein JH, Saal HM, Hennekam RC, Peters DJ, Breuning MH: Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. J Med Genet. 2000, 37: 168-176. 10.1136/jmg.37.3.168.
Article
CAS
PubMed
PubMed Central
Google Scholar
Bartsch O, Rasi S, Delicado A, Dyack S, Neumann LM, Seemanová E, Volleth M, Haaf T, Kalscheuer VM: Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. Hum Genet. 2006, 120: 179-186. 10.1007/s00439-006-0215-0.
Article
CAS
PubMed
Google Scholar
Stef M, Simon D, Mardirossian B, Delrue MA, Burgelin I, Hubert C, Marche M, Bonnet F, Gorry P, Longy M, Lacombe D, Coupry I, Arveiler B: Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients. Eur J Hum Genet. 2007, 15: 843-847. 10.1038/sj.ejhg.5201847.
Article
CAS
PubMed
Google Scholar
Tanaka T, Ling BC, Rubinstein JH, Crone KR: Rubinstein-Taybi syndrome in children with tethered spinal cord. J Neurosurg. 2006, 105 (4 Suppl): 261-264.
PubMed
Google Scholar
Wiley S, Swayne S, Rubinstein JH, Lanphear NE, Stevens CA: Rubinstein-Taybi syndrome medical guidelines. Am J Med Genet A. 2003, 119A: 101-110. 10.1002/ajmg.a.10009.
Article
PubMed
Google Scholar
Fernández AA, Guerrero AI, Martínez MI, Vázquez ME, Fernández JB, Chesa I Octavio E, Labrado Jde L, Silva ME, de Araoz MF, García-Ramos R, Ribes MG, Gómez C, Valdivia JI, Valbuena RN, Ramón JR: Malformations of the craniocervical junction (Chiari type I and syringomyelia: classification, diagnosis and treatment). BMC Musculoskelet Disord. 2009, 10 (Suppl 1): S1-10.1186/1471-2474-10-S1-S1.
Article
PubMed
Google Scholar
Kishimoto M, Okimura Y, Yagita K, Iguchi G, Fumoto M, Iida K, Kaji H, Okamura H, Chihara K: Novel function of the transactivation domain of a pituitary-specific transcription factor, Pit-1. J Biol Chem. 2002, 277: 45141-45148. 10.1074/jbc.M202991200.
Article
CAS
PubMed
Google Scholar
Mantamadiotis T, Kretz O, Ridder S, Bleckmann SC, Bock D, Gröne HJ, Malaterre J, Dworkin S, Ramsay RG, Schütz G: Hypothalamic 3′, 5′-cyclic adenosine monophosphate response element-binding protein loss causes anterior pituitary hypoplasia and dwarfism in mice. Mol Endocrinol. 2006, 20: 204-211.
Article
CAS
PubMed
Google Scholar
Cohen LE, Hashimoto Y, Zanger K, Wondisford F, Radovick S: CREB-independent regulation by CBP is a novel mechanism of human growth hormone gene expression. J Clin Invest. 1999, 104: 1123-1130. 10.1172/JCI7308.
Article
CAS
PubMed
PubMed Central
Google Scholar
Aitken LA, Lindan CE, Sidney S, Gupta N, Barkovich AJ, Sorel M, Wu YW: Chiari type I malformation in a pediatric population. Pediatr Neurol. 2009, 40: 449-454. 10.1016/j.pediatrneurol.2009.01.003.
Article
PubMed
PubMed Central
Google Scholar
Massaro M, Pastore S, Ventura A, Barbi E: Pain in cognitively impaired children: a focus for general pediatricians. Eur J Pediatr. 2013, 171: 9-14.
Article
Google Scholar