Published in Nat Genet on March 01, 2001
Genomic disorders on 22q11. Am J Hum Genet (2002) 2.63
Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. PLoS Genet (2005) 2.52
Transcriptional mechanisms regulating skeletal muscle differentiation, growth and homeostasis. Nat Rev Mol Cell Biol (2011) 2.51
Required, tissue-specific roles for Fgf8 in outflow tract formation and remodeling. Development (2006) 2.41
An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome. Development (2002) 2.31
YAP1, the nuclear target of Hippo signaling, stimulates heart growth through cardiomyocyte proliferation but not hypertrophy. Proc Natl Acad Sci U S A (2012) 2.13
Essential role for mitochondrial thioredoxin reductase in hematopoiesis, heart development, and heart function. Mol Cell Biol (2004) 2.12
Ablation of specific expression domains reveals discrete functions of ectoderm- and endoderm-derived FGF8 during cardiovascular and pharyngeal development. Development (2003) 2.09
Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome. Proc Natl Acad Sci U S A (2009) 2.04
Model systems for the study of heart development and disease. Cardiac neural crest and conotruncal malformations. Semin Cell Dev Biol (2006) 2.03
Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc Natl Acad Sci U S A (2006) 2.03
Tbx5 and Tbx20 act synergistically to control vertebrate heart morphogenesis. Development (2005) 2.02
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Mesodermal expression of Tbx1 is necessary and sufficient for pharyngeal arch and cardiac outflow tract development. Development (2006) 1.82
Fibroblast growth factor 10 gene regulation in the second heart field by Tbx1, Nkx2-5, and Islet1 reveals a genetic switch for down-regulation in the myocardium. Proc Natl Acad Sci U S A (2012) 1.73
Discriminating power of localized three-dimensional facial morphology. Am J Hum Genet (2005) 1.71
The T-box family. Genome Biol (2002) 1.69
Targeted mutagenesis of the Hira gene results in gastrulation defects and patterning abnormalities of mesoendodermal derivatives prior to early embryonic lethality. Mol Cell Biol (2002) 1.66
Regional regulation of palatal growth and patterning along the anterior-posterior axis in mice. J Anat (2005) 1.60
Stem cell therapy for the inner ear: recent advances and future directions. Trends Amplif (2012) 1.58
Crkl deficiency disrupts Fgf8 signaling in a mouse model of 22q11 deletion syndromes. Dev Cell (2006) 1.55
Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development. Am J Hum Genet (2006) 1.50
Inactivation of TGFbeta signaling in neural crest stem cells leads to multiple defects reminiscent of DiGeorge syndrome. Genes Dev (2005) 1.50
Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB. J Clin Invest (2001) 1.48
GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. Proc Natl Acad Sci U S A (2009) 1.47
Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome. J Biol Chem (2002) 1.45
22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development. Pediatr Cardiol (2010) 1.44
Transcriptional pathways in second heart field development. Semin Cell Dev Biol (2007) 1.43
Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance. Mol Cell Biol (2003) 1.42
The matricellular protein CCN1 is essential for cardiac development. Circ Res (2006) 1.41
Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice. J Clin Invest (2009) 1.40
Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development. Proc Natl Acad Sci U S A (2008) 1.40
Identification of downstream genetic pathways of Tbx1 in the second heart field. Dev Biol (2008) 1.39
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. N Engl J Med (2017) 1.39
A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis. J Clin Invest (2011) 1.39
From microscopes to microarrays: dissecting recurrent chromosomal rearrangements. Nat Rev Genet (2007) 1.37
Modeling cognitive endophenotypes of schizophrenia in mice. Trends Neurosci (2009) 1.32
Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice. Proc Natl Acad Sci U S A (2003) 1.30
mef2ca is required in cranial neural crest to effect Endothelin1 signaling in zebrafish. Dev Biol (2007) 1.30
Essential role for ADAM19 in cardiovascular morphogenesis. Mol Cell Biol (2004) 1.27
A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations. Nat Genet (2013) 1.19
The neural crest in cardiac congenital anomalies. Differentiation (2012) 1.17
Relationship between neural crest cells and cranial mesoderm during head muscle development. PLoS One (2009) 1.17
The 22q11.2 microdeletion: fifteen years of insights into the genetic and neural complexity of psychiatric disorders. Int J Dev Neurosci (2010) 1.16
Pbx1 functions in distinct regulatory networks to pattern the great arteries and cardiac outflow tract. Development (2008) 1.15
Role of mesodermal FGF8 and FGF10 overlaps in the development of the arterial pole of the heart and pharyngeal arch arteries. Circ Res (2009) 1.15
Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome. Neurogenetics (2006) 1.14
A stem-deuterostome origin of the vertebrate pharyngeal transcriptional network. Proc Biol Sci (2011) 1.14
A zebrafish screen for craniofacial mutants identifies wdr68 as a highly conserved gene required for endothelin-1 expression. BMC Dev Biol (2006) 1.13
Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients. Hum Mol Genet (2006) 1.13
The role of the endoderm in the development and evolution of the pharyngeal arches. J Anat (2005) 1.13
Partitioning the heart: mechanisms of cardiac septation and valve development. Development (2012) 1.13
Multiple roles and interactions of Tbx4 and Tbx5 in development of the respiratory system. PLoS Genet (2012) 1.13
Patterning of the third pharyngeal pouch into thymus/parathyroid by Six and Eya1. Dev Biol (2006) 1.13
Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome. Behav Genet (2011) 1.11
Mechanisms of thymus organogenesis and morphogenesis. Development (2011) 1.10
MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders. BMC Cell Biol (2002) 1.10
Fgf8 expression in the Tbx1 domain causes skeletal abnormalities and modifies the aortic arch but not the outflow tract phenotype of Tbx1 mutants. Dev Biol (2006) 1.10
Nucleocytoplasmic functions of the PDZ-LIM protein family: new insights into organ development. Bioessays (2010) 1.10
Of mice and men: molecular genetics of congenital heart disease. Cell Mol Life Sci (2013) 1.10
Gcm2 is required for the differentiation and survival of parathyroid precursor cells in the parathyroid/thymus primordia. Dev Biol (2007) 1.10
Tbx1 controls cardiac neural crest cell migration during arch artery development by regulating Gbx2 expression in the pharyngeal ectoderm. Development (2009) 1.09
Age-dependent microRNA control of synaptic plasticity in 22q11 deletion syndrome and schizophrenia. J Neurosci (2012) 1.07
Signaling and transcriptional networks in heart development and regeneration. Cold Spring Harb Perspect Biol (2013) 1.07
Mitochondrial localization and function of a subset of 22q11 deletion syndrome candidate genes. Mol Cell Neurosci (2008) 1.06
Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. Am J Hum Genet (2010) 1.06
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Hum Mutat (2011) 1.05
Loss of microRNAs in neural crest leads to cardiovascular syndromes resembling human congenital heart defects. Arterioscler Thromb Vasc Biol (2010) 1.05
Tbx1: identification of a 22q11.2 gene as a risk factor for autism spectrum disorder in a mouse model. Hum Mol Genet (2011) 1.04
Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Immunol (2010) 1.04
T-box factors determine cardiac design. Cell Mol Life Sci (2007) 1.04
Enamel-free teeth: Tbx1 deletion affects amelogenesis in rodent incisors. Dev Biol (2009) 1.03
lessen encodes a zebrafish trap100 required for enteric nervous system development. Development (2006) 1.03
Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes. Hum Mol Genet (2009) 1.02
Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1. Am J Hum Genet (2002) 1.02
Developmental expression of the Xenopus laevis Tbx20 orthologue. Dev Genes Evol (2002) 1.00
MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndrome. Dev Cell (2012) 1.00
Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome. Dev Disabil Res Rev (2008) 1.00
22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases. Pediatr Cardiol (2013) 1.00
22q11 Gene dosage establishes an adaptive range for sonic hedgehog and retinoic acid signaling during early development. Hum Mol Genet (2012) 0.99
A 200-kb region of human chromosome 22q11.2 confers antipsychotic-responsive behavioral abnormalities in mice. Proc Natl Acad Sci U S A (2005) 0.99
Tbx1 is necessary for palatal elongation and elevation. Mech Dev (2010) 0.99
Understanding the role of Tbx1 as a candidate gene for 22q11.2 deletion syndrome. Curr Allergy Asthma Rep (2013) 0.98
The T-box factor MLS-1 acts as a molecular switch during specification of nonstriated muscle in C. elegans. Genes Dev (2002) 0.98
The molecular pathology of primary immunodeficiencies. J Mol Diagn (2004) 0.98
Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism. Nat Commun (2016) 0.97
A symphony of inner ear developmental control genes. BMC Genet (2010) 0.97
The cleft lip and palate defects in Dancer mutant mice result from gain of function of the Tbx10 gene. Proc Natl Acad Sci U S A (2004) 0.97
Gain of function of Tbx1 affects pharyngeal and heart development in the mouse. Genesis (2009) 0.97
Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse. PLoS Genet (2009) 0.97
Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome. Clin Immunol (2013) 0.96
Disruption of Smad4 in neural crest cells leads to mid-gestation death with pharyngeal arch, craniofacial and cardiac defects. Dev Biol (2008) 0.96
The T-box gene family: emerging roles in development, stem cells and cancer. Development (2014) 0.96
A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: insights from the International BAVCon (Bicuspid Aortic Valve Consortium). J Am Coll Cardiol (2014) 0.96
Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes. Proc Natl Acad Sci U S A (2001) 0.95
Protein tyrosine phosphatase activity in the neural crest is essential for normal heart and skull development. Proc Natl Acad Sci U S A (2009) 0.94
Beta-catenin deficiency causes DiGeorge syndrome-like phenotypes through regulation of Tbx1. Development (2010) 0.94
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