Literature DB >> 26634261

Mutation Analysis of TBX1 in Children with Conotruncal Heart Anomalies.

Teena Koshy1, Vettriselvi Venkatesan1, Kalpana Gowrishankar2, Venkatachalam Perumal1, Shruthi Mohan1, Solomon Franklin Durairaj Paul3.   

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Year:  2015        PMID： 26634261     DOI： 10.1007/s12098-015-1953-6

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  5 in total

1.  Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects.

Authors:  W Gong; S Gottlieb; J Collins; A Blescia; H Dietz; E Goldmuntz; D M McDonald-McGinn; E H Zackai; B S Emanuel; D A Driscoll; M L Budarf
Journal:  J Med Genet       Date:  2001-12       Impact factor: 6.318

2.  DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene.

Authors:  Emanuela Conti; Nicoletta Grifone; Anna Sarkozy; Caterina Tandoi; Bruno Marino; Maria Cristina Digilio; Rita Mingarelli; Antonio Pizzuti; Bruno Dallapiccola
Journal:  Eur J Hum Genet       Date:  2003-04       Impact factor: 4.246

3.  TBX1 gene mutation screening in patients with non-syndromic Fallot tetralogy.

Authors:  Feryal Cabuk; Halil G Karabulut; Timur Tuncali; Selmin Karademir; Mithat Bozdayi; Ajlan Tükün
Journal:  Turk J Pediatr       Date:  2007 Jan-Mar       Impact factor: 0.552

4.  Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.

Authors:  Helen R Griffin; Ana Töpf; Elise Glen; Christiane Zweier; A Graham Stuart; Jonathan Parsons; Ian Peart; John Deanfield; John O'Sullivan; Anita Rauch; Peter Scambler; John Burn; Heather J Cordell; Bernard Keavney; Judith A Goodship
Journal:  Heart       Date:  2010-10       Impact factor: 5.994

5.  Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion.

Authors:  Yue-Juan Xu; Sun Chen; Jian Zhang; Shao-Hai Fang; Qian-Qian Guo; Jian Wang; Qi-Hua Fu; Fen Li; Rang Xu; Kun Sun
Journal:  BMC Med Genet       Date:  2014-07-06       Impact factor: 2.103
  5 in total

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