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Literature DB >> 26143027

Rubinstein-Taybi Syndrome.

Douglas T Hutchinson¹, Ryan Sullivan².

Abstract

Entities: Disease

Mesh：

Year: 2015 PMID： 26143027 DOI： 10.1016/j.jhsa.2014.08.043

Source DB: PubMed Journal: J Hand Surg Am ISSN： 0363-5023 Impact factor: 2.230

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Cited

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8 in total

Review 1. Development of the long bones in the hands and feet of children: radiographic and MR imaging correlation.

Authors: Tal Laor; Jeffrey P Clarke; Hong Yin
Journal: Pediatr Radiol Date: 2016-01-21

2. Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

Authors: Tamar I de Vries; Glen R Monroe; Martine J van Belzen; Christian A van der Lans; Sanne Mc Savelberg; William G Newman; Gijs van Haaften; Rutger A Nievelstein; Mieke M van Haelst
Journal: Eur J Hum Genet Date: 2016-03-09 Impact factor: 4.246

3. A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability.

Authors: Haiming Yuan; Zhe Meng; Lina Zhang; Xiangyang Luo; Liping Liu; Mengfan Chen; Xinwei Li; Weiwei Zhao; Liyang Liang
Journal: Mol Cytogenet Date: 2016-01-11 Impact factor: 2.009

4. Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome.

Authors: Yueheng Wu; Yu Xia; Ping Li; Hui-Qi Qu; Yichuan Liu; Yongchao Yang; Jijin Lin; Meng Zheng; Lifeng Tian; Zhuanbin Wu; Shufang Huang; Xianyu Qin; Xianwu Zhou; Shaoxian Chen; Yanying Liu; Yonghua Wang; Xiaofeng Li; Hanshi Zeng; Hakon Hakonarson; Jian Zhuang
Journal: Orphanet J Rare Dis Date: 2020-04-22 Impact factor: 4.123

Rubinstein-Taybi Syndrome.

Review 1. Development of the long bones in the hands and feet of children: radiographic and MR imaging correlation.

2. Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

3. A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability.

4. Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome.

Review 5. Impaired Regulation of Histone Methylation and Acetylation Underlies Specific Neurodevelopmental Disorders.

6. A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndrome.

Review 7. Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review.

Review 8. Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.