Condition: AORTIC VALVE DISEASE 2
rs104894378 in
TBX5 gene and
AORTIC VALVE DISEASE 2
PMID 12789647 2003 Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.
PMID 11555635 2001 Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome.
PMID 8988165 1997 Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome.
PMID 20519243 2010 Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.
PMID 12499378 2003 Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome.
PMID 10077612 1999 Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.
PMID 25931334 2015 The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects.
PMID 10077762 1998 Helicobacter pylori infection and autoimmune processes: an emerging field of study.
PMID 16380715 2006 Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart.
PMID 16183809 2005 TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.
PMID 16917909 2006 Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations.
PMID 25500235 2014 Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease.
PMID 21637475 2010 Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome.
PMID 15710732 2005 Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome.
PMID 8988164 1997 Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family.
PMID 17534187 2007 Novel TBX5 mutations in patients with Holt-Oram syndrome.