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Literature DB >> 15060116

Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients.

A Rauch, K Devriendt, A Koch, R Rauch, M Gewillig, C Kraus, M Weyand, H Singer, A Reis, M Hofbeck.

Abstract

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2004 PMID： 15060116 PMCID： PMC1735727 DOI： 10.1136/jmg.2003.010975

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

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12 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. 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

Review 3. Transcription factor pathways and congenital heart disease.

Authors: David J McCulley; Brian L Black
Journal: Curr Top Dev Biol Date: 2012 Impact factor: 4.897

Review 4. Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome.

Authors: Nicole Philip; Anne Bassett
Journal: Behav Genet Date: 2011-05-15 Impact factor: 2.805

5. Investigation of TBX1 gene deletion in Iranian children with 22q11.2 deletion syndrome: correlation with conotruncal heart defects.

Authors: Hamid Ganji; Mansoor Salehi; Maryam Sedghi; Hossein Abdali; Nayereh Nouri; Leyli Sadri; Majid Hosseinzadeh; Bahareh Vakili; Mahdi Lotfi
Journal: Heart Asia Date: 2013-09-12

6. Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.

Authors: Tingwei Guo; Donna McDonald-McGinn; Anna Blonska; Alan Shanske; Anne S Bassett; Eva Chow; Mark Bowser; Molly Sheridan; Frits Beemer; Koen Devriendt; Ann Swillen; Jeroen Breckpot; Maria C Digilio; Bruno Marino; Bruno Dallapiccola; Courtney Carpenter; Xin Zheng; Jacob Johnson; Jonathan Chung; Anne Marie Higgins; Nicole Philip; Tony J Simon; Karlene Coleman; Damian Heine-Suner; Jordi Rosell; Wendy Kates; Marcella Devoto; Elizabeth Goldmuntz; Elaine Zackai; Tao Wang; Robert Shprintzen; Beverly Emanuel; Bernice Morrow
Journal: Hum Mutat Date: 2011-09-16 Impact factor: 4.878

7. 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