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Human Molecular Genetics, ISSN 0964-6906, 07/2012, Volume 21, Issue 14, pp. 3255 - 3263
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 03/2017, Volume 26, Issue 5, pp. 942 - 954
TBX5, a member of the T-box family of transcription factors, is a dosage sensitive regulator of heart development. Mutations in TBX5 are responsible for... 
MICRODELETION | REGULATOR | BIOCHEMISTRY & MOLECULAR BIOLOGY | CONGENITAL HEART-DISEASE | GENETICS & HEREDITY | GATA4 | NETWORKS | MUTATIONS | DIFFERENTIATION | DISTINCT EXPRESSION | CARDIOGENESIS | MOLECULAR-BASIS | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Heart Atria - pathology | Transcriptional Activation - genetics | Humans | Protein Domains - genetics | Heart Defects, Congenital - genetics | Kruppel-Like Transcription Factors - metabolism | Cell Cycle Proteins - genetics | Heart Septal Defects, Atrial - metabolism | Heart Septal Defects, Atrial - genetics | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Heart Ventricles - pathology | Repressor Proteins - metabolism | Disease Models, Animal | Lower Extremity Deformities, Congenital - metabolism | Cell Cycle Proteins - metabolism | Gene Expression Regulation | Heart Defects, Congenital - pathology | Repressor Proteins - genetics | Upper Extremity Deformities, Congenital - metabolism | Upper Extremity Deformities, Congenital - pathology | Upper Extremity Deformities, Congenital - genetics | T-Box Domain Proteins - genetics | T-Box Domain Proteins - metabolism | Heart Atria - metabolism | Animals | Protein Interaction Maps - genetics | Protein Binding | Heterozygote | Heart Defects, Congenital - metabolism | Heart Ventricles - metabolism | Mice | Mutation | Kruppel-Like Transcription Factors - genetics | Heart Septal Defects, Atrial - pathology | Lower Extremity Deformities, Congenital - pathology
Journal Article
by Su, W and Zhu, P and Wang, R and Wu, Q and Wang, M and Zhang, X and Mei, L and Tang, J and Kumar, M and Wang, X and Su, L and Dong, N
Clinical Genetics, ISSN 0009-9163, 03/2017, Volume 91, Issue 3, pp. 349 - 354
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2015, Volume 5, Issue 1, p. 18240
Journal Article
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 11/2017, Volume 60, Issue 11, pp. 589 - 594
We report the first trimester three-dimensional ultrasonographic findings in a 13-week-old fetus with complex phenotype and a 4.7 Mb multigene deletion... 
Chromosome 20 deletion | Radial ray anomaly | ADNP | Microarray | Ventriculomegaly | SALL4 | STEM-CELLS | PROLIFERATION | GENE | NOVO KCNB1 MUTATIONS | GENETICS & HEREDITY | MOLYBDENUM COFACTOR DEFICIENCY | OKIHIRO-SYNDROME | CLINICAL PHENOTYPE | EPILEPTIC ENCEPHALOPATHY | Heart Septal Defects, Atrial - diagnostic imaging | Humans | Heart Septal Defects, Atrial - diagnosis | Heart Defects, Congenital - genetics | Heart Defects, Congenital - diagnostic imaging | Lower Extremity Deformities, Congenital - diagnostic imaging | Adult | Female | Heart Septal Defects, Atrial - genetics | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Chromosome Deletion | Shab Potassium Channels - genetics | Diagnosis, Differential | Abnormalities, Multiple - diagnostic imaging | Lower Extremity Deformities, Congenital - diagnosis | Transcription Factors - genetics | Upper Extremity Deformities, Congenital - genetics | Nerve Tissue Proteins - genetics | Homeodomain Proteins - genetics | Pregnancy | Upper Extremity Deformities, Congenital - diagnosis | Phenotype | Ultrasonography, Prenatal | Abnormalities, Multiple - diagnosis | Heart Defects, Congenital - diagnosis | Upper Extremity Deformities, Congenital - diagnostic imaging | Chromosomes, Human, Pair 20 - genetics | Genetic research | Genetic aspects | Diagnostic imaging | Ultrasound imaging | Pregnant women | Genomics | Medical colleges | Medical genetics | Cytogenetics
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 08/2012, Volume 20, Issue 8, pp. 863 - 869
Holt-Oram syndrome (HOS) is a rare autosomal dominant heart-hand syndrome due to mutations in the TBX5 transcription factor. Affected individuals can have... 
congenital heart disease | limb anomalies | TBX5 | array-CGH | duplication | Holt-Oram syndrome | PARTIAL TRISOMY 12Q | BIOCHEMISTRY & MOLECULAR BIOLOGY | ATRIAL-FIBRILLATION | LIMB | HEART-DISEASE | GENE | GENETICS & HEREDITY | FUNCTIONAL-ANALYSIS | MUTATIONS | CARDIOGENESIS | TRANSCRIPTION FACTOR | MANIFESTATIONS | Gene Duplication | Computational Biology - methods | Humans | Lower Extremity Deformities, Congenital - diagnosis | Male | Upper Extremity Deformities, Congenital - genetics | Heart Septal Defects, Atrial - diagnosis | T-Box Domain Proteins - genetics | DNA Copy Number Variations | Upper Extremity Deformities, Congenital - diagnosis | Young Adult | Heart Defects, Congenital - genetics | Phenotype | Comparative Genomic Hybridization | Abnormalities, Multiple - diagnosis | Adult | Family | Female | Heart Defects, Congenital - diagnosis | Heart Septal Defects, Atrial - genetics | Chromosomes, Human, Pair 12 | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | TBX5 gene | Heart | Conduction | Transcription factors | Exons | Genomics | Genes | Tbx5 protein | Stenosis | Dislocation | Defects | Cell adhesion & migration | Fibrillation | Genetics | Rheumatic heart disease | Localization | Heart diseases | Hypoplasia | Breakpoints | Phenotypes | Mitral valve | Congenital diseases | Splicing | Introns | Lung diseases | Coronary heart disease | Haploinsufficiency | Alleles | Mutation | Limbs | Head | Finger | tbx5 protein | Sinus | genomics | Holt–Oram syndrome
Journal Article
Journal Article
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