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Items: 1 to 20 of 145

1.
A Case Report of Rubinstein-Taybi Syndrome Presenting with Extensive Keloid Formation and Review of Literature
Jee-Woo Kim, Jung Min Ko, Dong Yoon Lee, Jung-Won Shin
Ann Dermatol. 2023 May; 35(Suppl 1): S19–S24. Published online 2023 May 3. doi: 10.5021/ad.20.320
PMCID:
PMC10608378
ArticlePDF–14M
2.
Novel heterozygous variants in the EP300 gene cause Rubinstein–Taybi syndrome 2: Reports from two Chinese children
Caiqi Du, Zhuoguang Li, Biao Zou, Xuesong Li, Fan Chen, Yan Liang, Xiaoping Luo, Sainan Shu
Mol Genet Genomic Med. 2023 Sep; 11(9): e2192. Published online 2023 May 10. doi: 10.1002/mgg3.2192
PMCID:
PMC10496081
ArticlePDF–952K
3.
Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome
Dima Qu’d, Lauren M. Schmitt, Amber Leston, Jacqueline R. Harris, Anne Slavotinek, Ilka Riddle, Diana S. Brightman, Brittany N. Simpson
Front Genet. 2023; 14: 1116919. Published online 2023 Jun 21. doi: 10.3389/fgene.2023.1116919
PMCID:
PMC10321757
ArticlePDF–2.1M
4.
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia
Xiaoyu Huang, Xue Rui, Shuang Zhang, Xiaolong Qi, Weining Rong, Xunlun Sheng
BMC Med Genomics. 2023; 16: 84. Published online 2023 Apr 21. doi: 10.1186/s12920-023-01516-9
PMCID:
PMC10120144
ArticlePDF–1.5M
5.
Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
Yang Yang, Jing Xiao, Yuanyuan Ye, Jianwen Xiang, Zhu Wang, Jia Chen
Front Pediatr. 2023; 11: 1059658. Published online 2023 Mar 3. doi: 10.3389/fped.2023.1059658
PMCID:
PMC10022664
ArticlePDF–11M
6.
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene
Zhouxian Bai, Gaopan Li, Xiangdong Kong
BMC Med Genomics. 2023; 16: 24. Published online 2023 Feb 16. doi: 10.1186/s12920-022-01424-4
PMCID:
PMC9933371
ArticlePDF–1.4M
7.
Evaluation of Ayres Sensory Integration® Intervention on Sensory Processing and Motor Function in a Child with Rubinstein-Taybi Syndrome: A Case Report
Aymen Balikci, Teresa A May-Benson, Ayse Firdevs Aracikul Balikci, Ela Tarakci, Zeynep Ikbal Dogan, Gul Ilbay
Clin Med Insights Case Rep. 2023; 16: 11795476221148866. Published online 2023 Feb 1. doi: 10.1177/11795476221148866
PMCID:
PMC9903040
ArticlePDF–801K
8.
The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature
Neelam Awan, Effie Pearson, Lauren Shelley, Courtney Greenhill, Joanne Tarver, Jane Waite
Am J Med Genet A. 2022 Sep; 188(9): 2536–2554. Published online 2022 Jun 21. doi: 10.1002/ajmg.a.62867
PMCID:
PMC9542155
ArticlePDF–2.4M
9.
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome
Qian Wang, Cong Wang, Wen Bin Wei, Wei Ning Rong, Xiang Yu Shi
BMC Med Genomics. 2022; 15: 182. Published online 2022 Aug 19. doi: 10.1186/s12920-022-01335-4
PMCID:
PMC9389776
ArticlePDF–2.7M
10.
A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features
Ugur Musabak, Serdar Ceylaner, Tuba Erdogan, Ebru Sebnem Ayva
Case Reports Immunol. 2022; 2022: 4970973. Published online 2022 Jul 4. doi: 10.1155/2022/4970973
PMCID:
PMC9273453
ArticlePDF–3.1M
11.
The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience
Sofia Douzgou, Janet Dell’Oro, Cristina Rodriguez Fonseca, Alessandra Rei, Jo Mullins, Isabelle Jusiewicz, Sylvia Huisman, Brittany N. Simpson, Klea Vyshka, Donatella Milani, Oliver Bartsch, Didier Lacombe, Sixto García-Miñaúr, Raoul C. M. Hennekam
Eur J Hum Genet. 2022 Jul; 30(7): 841–847. Published online 2022 Apr 6. doi: 10.1038/s41431-022-01097-8
PMCID:
PMC9259744
ArticlePDF–2.2M
12.
Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case
Takeshi Imai, Daisuke Sakai, Jordy Schol, Toshihiro Nagai, Akihiko Hiyama, Hiroyuki Katoh, Masato Sato, Masahiko Watanabe
J Neurosurg Case Lessons. 2021 Mar 15; 1(11): CASE20110. Published online 2021 Mar 15. doi: 10.3171/CASE20110
PMCID:
PMC9241218
ArticlePDF–1.2M
13.
Ultrasound 2-D and 3-D diagnosis of Rubinstein–Taybi syndrome in a 21-week-old fetus
Francesco D’Ambrosi, Luisa Ronzoni, Roberta Villa, Stefano De Marinis, Giulia Emily Cetera, Chiara Maria Soldavini, Enrico Ferrazzi
J Ultrasound. 2022 Jun; 25(2): 301–304. Published online 2020 Jun 18. doi: 10.1007/s40477-020-00491-6
PMCID:
PMC9148357
ArticlePDF–733K
14.
Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant
Rhea Camille R. Yumul, Mary Anne D. Chiong
Case Rep Genet. 2022; 2022: 3388879. Published online 2022 May 21. doi: 10.1155/2022/3388879
PMCID:
PMC9148230
ArticlePDF–1.7M
15.
Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
Yu-Rong Lee, Yu-Chen Lin, Yi-Han Chang, Hsin-Yu Huang, Yi-Kai Hong, Wilson Jr F. Aala, Wei-Ting Tu, Meng-Che Tsai, Yen-Yin Chou, Chao-Kai Hsu
Front Genet. 2022; 13: 848879. Published online 2022 Apr 8. doi: 10.3389/fgene.2022.848879
PMCID:
PMC9024331
ArticlePDF–1.8M
16.
Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome
K. Taylor Wild, Tomoki T. Nomakuchi, Sarah E. Sheppard, Karla F. Leavens, Diva D. De León, Elaine H. Zackai
Am J Med Genet A. Author manuscript; available in PMC 2022 Apr 1.
Published in final edited form as: Am J Med Genet A. 2021 Apr; 185(4): 1251–1255. Published online 2021 Jan 14. doi: 10.1002/ajmg.a.62085
PMCID:
PMC8621558
ArticlePDF–262K
17.
Rubinstein-Taybi syndrome: a rare case report of a female child emphasizing physiotherapy on gross motor function
Rakesh Krishna Kovela, Mohammad Irshad Qureshi, Ansar Manakandathil, Mukesh Kumar Sinha, Neethu Dinesh, Pallavi Harjpal
Pan Afr Med J. 2021; 40: 85. Published online 2021 Oct 8. doi: 10.11604/pamj.2021.40.85.31240
PMCID:
PMC8607943
ArticlePDF–769K
18.
Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome
Naye Choi, Hwa Young Kim, Byung Chan Lim, Jong‐Hee Chae, Soo Yeon Kim, Jung Min Ko
Mol Genet Genomic Med. 2021 Oct; 9(10): e1791. Published online 2021 Aug 24. doi: 10.1002/mgg3.1791
PMCID:
PMC8580098
ArticlePDF–876K
19.
Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
Siham Chafai Elalaoui, Wiam Smaili, Julien Van-Gils, Patricia Fergelot, Ilham Ratbi, Mariam Tajir, Benoit Arveiler, Didier Lacombe, Abdelaziz Sefiani
Afr Health Sci. 2021 Jun; 21(2): 960–967. doi: 10.4314/ahs.v21i2.58
PMCID:
PMC8568211
ArticlePDF–379K
20.
Anesthetic Management of an Asian Pediatric Patient With Rubinstein-Taybi Syndrome for Dental Surgery
Phui Sze Au Yong, Hua Ling Evangeline Lim
J Med Cases. 2020 Jun; 11(6): 148–151. Published online 2020 May 28. doi: 10.14740/jmc3458
PMCID:
PMC8383646
ArticlePDF–316K

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