Literature DB >> 11748311

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

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.   

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Year:  2001        PMID： 11748311      PMCID： PMC1734783          DOI： 10.1136/jmg.38.12.e45

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  52 in total

1.  Investigation of the 22q11.2 candidate region in patients with midline facial defects with hypertelorism.

Authors:  M Simioni; E Lopes Freitas; T Paiva Vieira; I Lopes-Cendes; V Lúcia Gil-da-Silva-Lopes
Journal:  J Appl Genet       Date:  2010       Impact factor: 3.240

2.  HOXA1 gene is not potentially related to ventricular septal defect in Chinese children.

Authors:  Jiangyan Liu; Binbin Wang; Xuehong Chen; Hang Li; Jing Wang; Longfei Cheng; Xu Ma; Bingren Gao
Journal:  Pediatr Cardiol       Date:  2012-07-10       Impact factor: 1.655

3.  Mutation Analysis of TBX1 in Children with Conotruncal Heart Anomalies.

Authors:  Teena Koshy; Vettriselvi Venkatesan; Kalpana Gowrishankar; Venkatachalam Perumal; Shruthi Mohan; Solomon Franklin Durairaj Paul
Journal:  Indian J Pediatr       Date:  2015-12-04       Impact factor: 1.967

4.  Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.

Authors:  Christiane Zweier; Heinrich Sticht; Inci Aydin-Yaylagül; Christine E Campbell; Anita Rauch
Journal:  Am J Hum Genet       Date:  2007-01-18       Impact factor: 11.025

5.  A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.

Authors:  Kerry A Miller; Tiong Y Tan; Megan F Welfare; Susan M White; Zornitza Stark; Ravi Savarirayan; Trent Burgess; Andrew A Heggie; Georgina Caruana; John F Bertram; John F Bateman; Peter G Farlie
Journal:  Mol Syndromol       Date:  2014-11-08

6.  Genetic analysis of the TBX1 gene promoter in ventricular septal defects.

Authors:  Haihua Wang; Dongfeng Chen; Liming Ma; Haihong Meng; Yumei Liu; Wen Xie; Shuchao Pang; Bo Yan
Journal:  Mol Cell Biochem       Date:  2012-07-17       Impact factor: 3.396

7.  Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism.

Authors:  Dong Li; Christopher T Gordon; Myriam Oufadem; Jeanne Amiel; Harsh S Kanwar; Marina Bakay; Tiancheng Wang; Hakon Hakonarson; Michael A Levine
Journal:  J Clin Endocrinol Metab       Date:  2018-11-01       Impact factor: 5.958

8.  Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.

Authors:  Sean B Herman; Tingwei Guo; Donna M McDonald McGinn; Anna Blonska; Alan L Shanske; Anne S Bassett; Eva W C Chow; Mark Bowser; Molly Sheridan; Frits Beemer; Koen Devriendt; Ann Swillen; Jeroen Breckpot; M Cristina Digilio; Bruno Marino; Bruno Dallapiccola; Courtney Carpenter; Xin Zheng; Jacob Johnson; Jonathan Chung; Anne Marie Higgins; Nicole Philip; Tony Simon; Karlene Coleman; Damian Heine-Suner; Jordi Rosell; Wendy Kates; Marcella Devoto; Elaine Zackai; Tao Wang; Robert Shprintzen; Beverly S Emanuel; Bernice E Morrow
Journal:  Am J Med Genet A       Date:  2012-10-03       Impact factor: 2.802

Review 9.  22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development.

Authors:  Peter J Scambler
Journal:  Pediatr Cardiol       Date:  2010-04       Impact factor: 1.655

Review 10.  A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.

Authors:  Luis Fernández; Julián Nevado; Fernando Santos; Damià Heine-Suñer; Victor Martinez-Glez; Sixto García-Miñaur; Rebeca Palomo; Alicia Delicado; Isidora López Pajares; María Palomares; Luis García-Guereta; Eva Valverde; Federico Hawkins; Pablo Lapunzina
Journal:  BMC Med Genet       Date:  2009-06-02       Impact factor: 2.103
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