Associated Papers
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_genes
Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease.
Izarzugaza JMG et al.
Genome Medicine, 2020
32859249 (PubMed )
Supplement: 13073_2020_772_MOESM1_ESM.pdf
Identification of a novel non-sense mutation in TBX5 gene in pediatric patients with congenital heart defects.
Khatami M et al.
Journal of Cardiovascular and Thoracic Research, 2018
An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.
Li YJ et al.
Expert Review of Molecular Diagnostics, 2017
T-box family of transcription factor-TBX5, insights in development and disease.
Zhu T et al.
American Journal of Translational Research, 2017
A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome.
Al-Qattan MM et al.
Saudi Medical Journal, 2015
Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications.
Al-Qattan MM et al.
Gene, 2015
Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.
Boogerd CJ et al.
Cardiovascular Research, 2010
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