Literature DB >> 12239733

Rubinstein-Taybi syndrome and hypoplastic left heart.

David Hanauer, Michael Argilla, Robert Wallerstein.   

Abstract

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Year:  2002        PMID： 12239733     DOI： 10.1002/ajmg.10617

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  6 in total

1.  Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.

Authors:  Oliver Bartsch; Sasan Rasi; Alicia Delicado; Sarah Dyack; Luitgard M Neumann; Eva Seemanová; Marianne Volleth; Thomas Haaf; Vera M Kalscheuer
Journal:  Hum Genet       Date:  2006-06-17       Impact factor: 4.132

2.  Tricuspid atresia and pulmonary atresia in a child with Rubinstein-Taybi syndrome.

Authors:  Rohit S Loomba; Gabrielle Geddes
Journal:  Ann Pediatr Cardiol       Date:  2015 May-Aug

Review 3.  Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome.

Authors:  Silvia Spena; Cristina Gervasini; Donatella Milani
Journal:  J Pediatr Genet       Date:  2015-09-28

Review 4.  Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.

Authors:  Donatella Milani; Francesca Maria Paola Manzoni; Lidia Pezzani; Paola Ajmone; Cristina Gervasini; Francesca Menni; Susanna Esposito
Journal:  Ital J Pediatr       Date:  2015-01-20       Impact factor: 2.638

5.  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

6.  Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart.

Authors:  Harinder K Gill; Sian R Parsons; Cosma Spalluto; Angela F Davies; Victoria J Knorz; Clare E G Burlinson; Bee Ling Ng; Nigel P Carter; Caroline Mackie Ogilvie; David I Wilson; Roland G Roberts
Journal:  Eur J Hum Genet       Date:  2009-05-27       Impact factor: 4.246
  6 in total

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