296 related articles for article (PubMed ID: 16783566)
1. 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; Seemanová E; Volleth M; Haaf T; Kalscheuer VM
Hum Genet; 2006 Sep; 120(2):179-86. PubMed ID: 16783566
[TBL] [Abstract][Full Text] [Related]
2. 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; 2010 Feb; 152A(2):479-83. PubMed ID: 20101707
[TBL] [Abstract][Full Text] [Related]
3. 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; Seemanová E; Wiebe G; Rasi S
Hum Genet; 2005 Sep; 117(5):485-93. PubMed ID: 16021471
[TBL] [Abstract][Full Text] [Related]
4. Cryptic microdeletion of the CREBBP gene from t(1;16) (p36.2;p13.3) as a novel genetic defect causing Rubinstein-Taybi syndrome.
Kim SR; Kim HJ; Kim YJ; Kwon JY; Kim JW; Kim SH
Ann Clin Lab Sci; 2013; 43(4):450-6. PubMed ID: 24247805
[TBL] [Abstract][Full Text] [Related]
5. From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
Negri G; Magini P; Milani D; Colapietro P; Rusconi D; Scarano E; Bonati MT; Priolo M; Crippa M; Mazzanti L; Wischmeijer A; Tamburrino F; Pippucci T; Finelli P; Larizza L; Gervasini C
Hum Mutat; 2016 Feb; 37(2):175-83. PubMed ID: 26486927
[TBL] [Abstract][Full Text] [Related]
6. 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; 2007 Nov; 90(5):567-73. PubMed ID: 17855048
[TBL] [Abstract][Full Text] [Related]
7. 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; 2010 Jul; 18(7):768-75. PubMed ID: 20125191
[TBL] [Abstract][Full Text] [Related]
8. Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities.
Lee JS; Byun CK; Kim H; Lim BC; Hwang H; Choi JE; Hwang YS; Seong MW; Park SS; Kim KJ; Chae JH
Brain Dev; 2015 Apr; 37(4):402-8. PubMed ID: 25108505
[TBL] [Abstract][Full Text] [Related]
9. A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein-Taybi Syndrome Phenotypes.
Wang Q; Xu W; Liu Y; Yuan H
J Mol Neurosci; 2021 Mar; 71(3):607-612. PubMed ID: 32839936
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein-Taybi Syndrome kids with high frequency of polydactyly.
Yu S; Wu B; Qian Y; Zhang P; Lu Y; Dong X; Wang Q; Zhao X; Liu R; Zhou W; Wang H
Mol Genet Genomic Med; 2019 Dec; 7(12):e1009. PubMed ID: 31637876
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.
Yoo HJ; Kim K; Kim IH; Rho SH; Park JE; Lee KY; Kim SA; Choi BY; Kim N
Int J Mol Sci; 2015 Mar; 16(3):5697-713. PubMed ID: 25768348
[TBL] [Abstract][Full Text] [Related]
15. Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients.
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
Eur J Hum Genet; 2007 Aug; 15(8):843-7. PubMed ID: 17473832
[TBL] [Abstract][Full Text] [Related]
16. Rubinstein-Taybi Syndrome and Epigenetic Alterations.
Korzus E
Adv Exp Med Biol; 2017; 978():39-62. PubMed ID: 28523540
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.
Taine L; Goizet C; Wen ZQ; Petrij F; Breuning MH; Aymé S; Saura R; Arveiler B; Lacombe D
Am J Med Genet; 1998 Jul; 78(3):267-70. PubMed ID: 9677064
[TBL] [Abstract][Full Text] [Related]
20. Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.
Rusconi D; Negri G; Colapietro P; Picinelli C; Milani D; Spena S; Magnani C; Silengo MC; Sorasio L; Curtisova V; Cavaliere ML; Prontera P; Stangoni G; Ferrero GB; Biamino E; Fischetto R; Piccione M; Gasparini P; Salviati L; Selicorni A; Finelli P; Larizza L; Gervasini C
Hum Genet; 2015 Jun; 134(6):613-26. PubMed ID: 25805166
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]