| 1 | CREBBP, RSTS
|
| Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report.
|
| Kamenarova K, Simeonov E, Tzveova R, Dacheva D, Penkov M, Kremensky I, Perenovska P, Mitev V, Kaneva R.
|
| Hum Pathol 47(1):144-9. doi: 10.1016/j.humpath.2015.09.004.
2016
|
| 2 | RSTS
|
| Rubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene syndrome?
|
| Wójcik C, Volz K, Ranola M, Kitch K, Karim T, O'Neil J, Smith J, Torres-Martinez W.
|
| Am J Med Genet A 152A(2):479-83.
2010
|
| 3 | CREBBP, DUP16P13, RSTS
|
| Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.
|
| Thienpont B, Béna F, Breckpot J, Philip N, Menten B, Van Esch H, Scalais E, Salamone JM, Fong CT, Kussmann JL, Grange DK, Gorski JL, Zahir F, Yong SL, Morris MM, Gimelli S, Fryns JP, Mortier G, Friedman JM, Villard L, Bottani A, Vermeesch JR, Cheung SW, Devriendt K.
|
| J Med Genet 47(3):155-61. Epub 2009 Oct 14.PMID: 19833603 2010
|
| 4 | RSTS, RSTS2, RTS
|
| High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis.
|
| Gervasini C, Mottadelli F, Ciccone R, Castronovo P, Milani D, Scarano G, Bedeschi MF, Belli S, Pilotta A, Selicorni A, Zuffardi O, Larizza L.
|
| Eur J Hum Genet 18(7):768-75. Epub 2010 Feb 3.PMID: 20125191 2010
|
| 5 | CREBBP, RSTS
|
| High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis.
|
| Gervasini C, Mottadelli F, Ciccone R, Castronovo P, Milani D, Scarano G, Bedeschi MF, Belli S, Pilotta A, Selicorni A, Zuffardi O, Larizza L.
|
| Eur J Hum Genet 18(7):768-75. Epub 2010 Feb 3.PMID: 20125191 2010
|
| 6 | CREBBP, RSTS
|
| Inheritance and variable expression in Rubinstein-Taybi syndrome.
|
| Bartsch O, Kress W, Kempf O, Lechno S, Haaf T, Zechner U.
|
| Am J Med Genet A 152A(9):2254-61. 2010
|
| 7 | CREBBP, EP300, RSTS, RSTS2
|
| Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome.
|
| Chiang PW, Lee NC, Chien N, Hwu WL, Spector E, Tsai AC.
|
| Am J Med Genet A 149A(7):1463-1467. [Epub ahead of print] 2009
|
| 8 | CREBBP, EP300, RSTS
|
| Genotype-phenotype correlations in Rubinstein-Taybi syndrome.
|
| Schorry EK, Keddache M, Lanphear N, Rubinstein JH, Srodulski S, Fletcher D, Blough-Pfau RI, Grabowski GA.
|
| Am J Med Genet A 146A(19):2512-9.
2008
|
| 9 | RSTS
|
| Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome.
|
| Bloch-Zupan A, Stachtou J, Emmanouil D, Arveiler B, Griffiths D, Lacombe D.
|
| Am J Med Genet A 143(6):570-3. 2007
|
| 10 | CREBBP, RSTS
|
| High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints.
|
| Gervasini C, Castronovo P, Bentivegna A, Mottadelli F, Faravelli F, Giovannucci-Uzielli ML, Pessagno A, Lucci-Cordisco E, Pinto AM, Salviati L, Selicorni A, Tenconi R, Neri G, Larizza L.
|
| Genomics 90(5):567-73. Epub 2007 Sep 12. 2007
|
| 11 | CREBBP, DNASE1, RSTS
|
| Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.
|
| Bartsch O, Rasi S, Delicado A, Dyack S, Neumann LM, Seemanova E, Volleth M, Haaf T, Kalscheuer VM.
|
| Hum Genet 120(2):179-86. Epub 2006 Jun 17. 2006
|
| 12 | RSTS, CREBBP
|
| Rubinstein-Taybi syndrome.
|
| Hennekam RC.
|
| Eur J Hum Genet 14(9):981-5. Epub 2006 Jul 26. Review. 2006
|
| 13 | CREBBP, RSTS
|
| Rubinstein-Taybi syndrome: molecular findings and therapeutic approaches to improve cognitive dysfunction.
|
| Hallam TM, Bourtchouladze R.
|
| Cell Mol Life Sci 63(15):1725-35. Review. 2006
|
| 14 | CREBBP, RSTS, EP300, RSTS2
|
| Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease.
|
| Roelfsema JH, White SJ, Ariyurek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen GJ, Breuning MH, Hennekam RC, Peters DJ.
|
| Am J Hum Genet 76(4):572-80. Epub 2005 Feb 10. 2005
|
| 15 | RSTS
|
| Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome.
|
| Yamamoto T, Kurosawa K, Masuno M, Okuzumi S, Kondo S, Miyama S, Okamoto N, Aida N, Nishimura G.
|
| Am J Med Genet A 135(2):130-3. 2005
|
| 16 | CREBBP, RSTS
|
| DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.
|
| Bartsch O, Schmidt S, Richter M, Morlot S, Seemanova E, Wiebe G, Rasi S.
|
| Hum Genet 117(5):485-93. Epub 2005 Jul 14. 2005
|
| 17 | AIC, AXR2, CCA, CDG1D, DHOF, DPYD, HPE2, JBTS1, MCIA, MCOPCB2, MKS1, MRXS28, NBCCS2, NS1, OFCD, ONCR, OOD1, OPD2, RBP4, RIEG1, RSTS, TCOF1, WLKWS1, ZEB2
|
| Ocular coloboma: a reassessment in the age of molecular neuroscience.
|
| Gregory-Evans CY, Williams MJ, Halford S, Gregory-Evans K.
|
| J Med Genet 41(12):881-91. 2004
|
| 18 | CREBBP, RSTS
|
| Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome
|
| Kalkhoven E, Roelfsema JH, Teunissen H, den Boer A, Ariyurek Y, Zantema A, Breuning MH, Hennekam RC, Peters DJ.
|
| Hum Mol Genet 12(4):441-50. 2003
|
| 19 | CREBBP, RSTS
|
| Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the rubinstein-taybi syndrome.
|
| Blough RI, Petrij F, Dauwerse JG, Milatovich-Cherry A, Weiss L, Saal HM, Rubinstein JH.
|
| Am J Med Genet 90(1):29-34 2000
|
| 20 | RSTS
|
| Rubinstein-Taybi syndrome caused by a De Novo reciprocal translocation t(2;16)(q36.3;p13.3).
|
| Petrij F, Dorsman JC, Dauwerse HG, Giles RH, Peeters T, Hennekam RC, Breuning MH, Peters DJ.
|
| Am J Med Genet 92(1):47-52. 2000
|
| 21 | RSTS
|
| Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice : implications for a dominant-negative mechanism.
|
| Oike Y, et al.
|
| Hum Mol Genet 8 : 387-396. 1999
|
| 22 | CREBBP, RSTS
|
| FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy.
|
| Bartsch O, et al.
|
| Eur J Hum Genet 7(7):748-56 1999
|
| 23 | CREBBP, RSTS
|
| Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.
|
| Taine L, et al.
|
| Am J Med Genet 78 : 267-270. 1998
|
| 24 | RSTS
|
| Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome : frequency and clinical manifestations in a North American population.
|
| Wallerstein R, et al.
|
| J Med Genet 34 : 203-206. 1997
|
| 25 | D16S237, RSTS
|
| Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3 : two UK patients.
|
| McGaughran JM, et al.
|
| J Med Genet 33 : 82-83. 1996
|
| 26 | RSTS, CREBBP
|
| Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP.
|
| Petrij F, et al.
|
| Nature 376 : 348-351. 1995
|
| 27 | RSTS
|
| Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome.
|
| Masuno M, et al.
|
| Am J Med Genet 53 : 352-354. 1994
|
| 28 | RSTS
|
| Apparent dominant transmission of the Rubinstein-Taybi syndrome.
|
| Marion RW, et al.
|
| Am J Med Genet 46 : 284-287. 1993
|
| 29 | RSTS
|
| Chromosome aberrations in Rubinstein-Taybi syndrome.
|
| Imaizumi K, et al.
|
| Clin Genet 43 : 215-216. 1993
|
| 30 | RSTS
|
| Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.
|
| Breuning MH, et al.
|
| Am J Hum Genet 52 : 249-254. 1993
|
| 31 | RSTS
|
| Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome : clinical aspects.
|
| Hennekam RCM, et al.
|
| Am J Hum Genet 52 : 255-262. 1993
|
| 32 | RSTS
|
| Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3.
|
| Lacombe D, et al.
|
| Am J Med Genet 44 : 126-128. 1992
|
| 33 | RSTS
|
| Rubinstein-Taybi syndrome caused by submicroscopic deletions of chromosome 16.
|
| Breuning MH, Dauwerse HG, Fugazza G, Saris JJ, Spruit L, Wijnen H, Tommerup N, van der Hagen CB, Imaizumi K, Kuroki Y, et al.
|
| Cytogenet Cell Genet 60 : 168-169. 1992
|
| 34 | RSTS
|
| Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3).
|
| Tommerup N, et al.
|
| Am J Med Genet 44 : 237-241. 1992
|
| 35 | RSTS
|
| Chromosomal localisation of the Rubinstein-Taybi syndrome?
|
| Hennekam RCM.
|
| Am J Med Genet 38 : 634-635. 1991
|
| 36 | RSTS
|
| Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16) (p13.3;p13.3).
|
| Imaizumi K, et al.
|
| Am J Med Genet 38 : 636-639. 1991
|
| 37 | RSTS
|
| Sindrom Rubinstein-Taybi cu modificari de cariotip si pneumopatie recidivanta (Rubinstein-Taybi : syndrome with karyotype changes and recurring pneumopathy).
|
| Bazacliu E, et al.
|
| Ftiziologia 22 : 645-650. 1973
|