298 related articles for article (PubMed ID: 26603346)
41. Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.
Bartholdi D; Roelfsema JH; Papadia F; Breuning MH; Niedrist D; Hennekam RC; Schinzel A; Peters DJ
J Med Genet; 2007 May; 44(5):327-33. PubMed ID: 17220215
[TBL] [Abstract][Full Text] [Related]
42. Germline mosaicism in Rubinstein-Taybi syndrome.
Tajir M; Fergelot P; Lancelot G; Elalaoui SC; Arveiler B; Lacombe D; Sefiani A
Gene; 2013 Apr; 518(2):476-8. PubMed ID: 23352794
[TBL] [Abstract][Full Text] [Related]
43. De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia.
Huang X; Rui X; Zhang S; Qi X; Rong W; Sheng X
BMC Med Genomics; 2023 Apr; 16(1):84. PubMed ID: 37085840
[TBL] [Abstract][Full Text] [Related]
44. Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS.
Dauwerse JG; van Belzen M; van Haeringen A; van Santen G; van de Lans C; Rahikkala E; Garavelli L; Breuning M; Hennekam R; Peters D
Eur J Hum Genet; 2016 Nov; 24(11):1639-1643. PubMed ID: 27165009
[TBL] [Abstract][Full Text] [Related]
45. Rubinstein-Taybi Syndrome and Epigenetic Alterations.
Korzus E
Adv Exp Med Biol; 2017; 978():39-62. PubMed ID: 28523540
[TBL] [Abstract][Full Text] [Related]
46. Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.
Milani D; Manzoni FM; Pezzani L; Ajmone P; Gervasini C; Menni F; Esposito S
Ital J Pediatr; 2015 Jan; 41():4. PubMed ID: 25599811
[TBL] [Abstract][Full Text] [Related]
47. 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]
48. Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.
de Vries TI; Monroe GR; van Belzen MJ; van der Lans CA; Savelberg SM; Newman WG; van Haaften G; Nievelstein RA; van Haelst MM
Eur J Hum Genet; 2016 Aug; 24(9):1363-6. PubMed ID: 26956253
[TBL] [Abstract][Full Text] [Related]
49. 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]
50. Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.
Enomoto Y; Yokoi T; Tsurusaki Y; Murakami H; Tominaga M; Minatogawa M; Abe-Hatano C; Kuroda Y; Ohashi I; Ida K; Shiiya S; Kumaki T; Naruto T; Mitsui J; Harada N; Kido Y; Kurosawa K
Clin Genet; 2022 Mar; 101(3):335-345. PubMed ID: 34958122
[TBL] [Abstract][Full Text] [Related]
51. 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]
52. [Clinical and genetic characteristics of 21 children with Rubinstein-Taybi syndrome].
Yang SH; Liu HR; Li JY; Zhang Y; Liu ZQ; Wang L; Chen XL; Shangguan SF
Zhonghua Er Ke Za Zhi; 2024 Mar; 62(4):351-356. PubMed ID: 38527506
[No Abstract] [Full Text] [Related]
53. Molecular insight into CREBBP and TANGO2 variants causing intellectual disability.
Hussain SI; Muhammad N; Khan N; Khan M; Fardous F; Tahir R; Yasin M; Khan SA; Saleha S; Muhammad N; Wasif N; Khan S
J Gene Med; 2024 Jan; 26(1):e3591. PubMed ID: 37721116
[TBL] [Abstract][Full Text] [Related]
54. Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a case report.
Balci S; Ergün MA; Yüksel-Konuk EB; Bartsch O
Turk J Pediatr; 2008; 50(3):265-8. PubMed ID: 18773673
[TBL] [Abstract][Full Text] [Related]
55. Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature.
Jin E; Le H; Jewell A; Couser NL
Ophthalmic Genet; 2024 Feb; 45(1):51-58. PubMed ID: 37017262
[TBL] [Abstract][Full Text] [Related]
56. Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.
Negri G; Milani D; Colapietro P; Forzano F; Della Monica M; Rusconi D; Consonni L; Caffi LG; Finelli P; Scarano G; Magnani C; Selicorni A; Spena S; Larizza L; Gervasini C
Clin Genet; 2015 Feb; 87(2):148-54. PubMed ID: 24476420
[TBL] [Abstract][Full Text] [Related]
57. Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography.
Udaka T; Samejima H; Kosaki R; Kurosawa K; Okamoto N; Mizuno S; Makita Y; Numabe H; Toral JF; Takahashi T; Kosaki K
Congenit Anom (Kyoto); 2005 Dec; 45(4):125-31. PubMed ID: 16359492
[TBL] [Abstract][Full Text] [Related]
58. Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect.
Hadzsiev K; Gyorsok Z; Till A; Czakó M; Bartsch O
Clin Dysmorphol; 2019 Jul; 28(3):137-141. PubMed ID: 30789376
[TBL] [Abstract][Full Text] [Related]
59. Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.
Angius A; Uva P; Oppo M; Persico I; Onano S; Olla S; Pes V; Perria C; Cuccuru G; Atzeni R; Serra G; Cucca F; Sotgiu S; Hennekam RC; Crisponi L
Am J Med Genet A; 2019 Apr; 179(4):634-638. PubMed ID: 30737887
[TBL] [Abstract][Full Text] [Related]
60. 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; 2009 Jul; 149A(7):1463-7. PubMed ID: 19533794
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]