169 related articles for article (PubMed ID: 12070251)
21. 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; 2003 Feb; 12(4):441-50. PubMed ID: 12566391
[TBL] [Abstract][Full Text] [Related]
22. Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.
Bentivegna A; Milani D; Gervasini C; Castronovo P; Mottadelli F; Manzini S; Colapietro P; Giordano L; Atzeri F; Divizia MT; Uzielli ML; Neri G; Bedeschi MF; Faravelli F; Selicorni A; Larizza L
BMC Med Genet; 2006 Oct; 7():77. PubMed ID: 17052327
[TBL] [Abstract][Full Text] [Related]
23. Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome.
Calì F; Failla P; Chiavetta V; Ragalmuto A; Ruggeri G; Schinocca P; Schepis C; Romano V; Romano C
Genet Mol Res; 2013 Jan; 12(3):2809-15. PubMed ID: 23315884
[TBL] [Abstract][Full Text] [Related]
24. Rubinstein-Taybi syndrome.
Hennekam RC
Eur J Hum Genet; 2006 Sep; 14(9):981-5. PubMed ID: 16868563
[TBL] [Abstract][Full Text] [Related]
25. 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; 2000 Jan; 90(1):29-34. PubMed ID: 10602114
[TBL] [Abstract][Full Text] [Related]
26. A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome.
Lai AH; Brett MS; Chin WH; Lim EC; Ng JS; Tan EC
Gene; 2012 May; 499(1):182-5. PubMed ID: 22426292
[TBL] [Abstract][Full Text] [Related]
27. A boy with classical Rubinstein-Taybi syndrome but no detectable mutation in the CREBBP and EP300 genes.
Caglayan AO; Lechno S; Gumus H; Bartsch O; Fryns JP
Genet Couns; 2011; 22(4):341-6. PubMed ID: 22303793
[TBL] [Abstract][Full Text] [Related]
28. Further case of Rubinstein-Taybi syndrome due to a deletion in EP300.
Foley P; Bunyan D; Stratton J; Dillon M; Lynch SA
Am J Med Genet A; 2009 May; 149A(5):997-1000. PubMed ID: 19353645
[TBL] [Abstract][Full Text] [Related]
29. Human genetics. Smart transcription factors.
D'Arcangelo G; Curran T
Nature; 1995 Jul; 376(6538):292-3. PubMed ID: 7630390
[No Abstract] [Full Text] [Related]
30. Screening for partial deletions in the CREBBP gene in Rubinstein-Taybi syndrome patients using multiplex PCR/liquid chromatography.
Udaka T; Kurosawa K; Izumi K; Yoshida S; Tsukahara M; Okamoto N; Torii C; Kosaki R; Masuno M; Hosokai N; Takahashi T; Kosaki K
Genet Test; 2006; 10(4):265-71. PubMed ID: 17253932
[TBL] [Abstract][Full Text] [Related]
31. Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.
López M; García-Oguiza A; Armstrong J; García-Cobaleda I; García-Miñaur S; Santos-Simarro F; Seidel V; Domínguez-Garrido E
BMC Med Genet; 2018 Mar; 19(1):36. PubMed ID: 29506490
[TBL] [Abstract][Full Text] [Related]
32. Psychiatric profile in rubinstein-taybi syndrome. A review and case report.
Verhoeven WM; Tuinier S; Kuijpers HJ; Egger JI; Brunner HG
Psychopathology; 2010; 43(1):63-8. PubMed ID: 19940543
[TBL] [Abstract][Full Text] [Related]
33. Rubinstein-Taybi syndrome and CREBBP c.201 202delTA mutation: a case presenting with varicella meningoencephalitis.
Çaksen H; Bartsch O; Okur M; Temel H; Açikgoz M; Yilmaz C
Genet Couns; 2009; 20(3):255-60. PubMed ID: 19852432
[TBL] [Abstract][Full Text] [Related]
34. Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.
Hamilton MJ; Newbury-Ecob R; Holder-Espinasse M; Yau S; Lillis S; Hurst JA; Clement E; Reardon W; Joss S; Hobson E; Blyth M; Al-Shehhi M; Lynch SA; Suri M;
Clin Dysmorphol; 2016 Oct; 25(4):135-45. PubMed ID: 27465822
[TBL] [Abstract][Full Text] [Related]
35. [Cofactor diseases].
Yanase T; Adachi M; Takayanagi R; Nawata H
Nihon Naika Gakkai Zasshi; 2003 Feb; 92(2):324-9. PubMed ID: 12652740
[No Abstract] [Full Text] [Related]
36. A mouse model of Rubinstein-Taybi syndrome: defective long-term memory is ameliorated by inhibitors of phosphodiesterase 4.
Bourtchouladze R; Lidge R; Catapano R; Stanley J; Gossweiler S; Romashko D; Scott R; Tully T
Proc Natl Acad Sci U S A; 2003 Sep; 100(18):10518-22. PubMed ID: 12930888
[TBL] [Abstract][Full Text] [Related]
37. Rubinstein-Taybi syndrome and familial Mediterranean fever in a single patient: two distinct genetic diseases located on chromosome 16p13.3.
Kalyoncu U; Tufan A; Karadag O; Kisacik B; Akdogan A; Calguneri M
J Natl Med Assoc; 2006 Oct; 98(10):1692-3. PubMed ID: 17052063
[TBL] [Abstract][Full Text] [Related]
38. Rubinstein-Taybi syndrome: molecular findings and therapeutic approaches to improve cognitive dysfunction.
Hallam TM; Bourtchouladze R
Cell Mol Life Sci; 2006 Aug; 63(15):1725-35. PubMed ID: 16786226
[TBL] [Abstract][Full Text] [Related]
39. 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; 2016 Jan; 47(1):144-9. PubMed ID: 26603346
[TBL] [Abstract][Full Text] [Related]
40. Letter to the Editor: A Novel Mutation in the CREBBP Gene of a Korean Girl with Rubinstein-Taybi syndrome.
Huh R; Cho SY; Kim J; Ki CS; Jin DK
Ann Clin Lab Sci; 2015; 45(4):458-61. PubMed ID: 26275701
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
