Published in Hum Mol Genet on April 06, 2006
Microtia: epidemiology and genetics. Am J Med Genet A (2011) 1.42
Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39. Am J Hum Genet (2009) 1.21
Tbx1 regulates population, proliferation and cell fate determination of otic epithelial cells. Dev Biol (2006) 1.07
Cooperative function of Tbx1 and Brn4 in the periotic mesenchyme is necessary for cochlea formation. J Assoc Res Otolaryngol (2008) 0.96
An evolutionarily conserved nuclear export signal facilitates cytoplasmic localization of the Tbx5 transcription factor. Mol Cell Biol (2007) 0.96
Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome. Hear Res (2011) 0.95
Tbx1 and Brn4 regulate retinoic acid metabolic genes during cochlear morphogenesis. BMC Dev Biol (2009) 0.94
Canonical Wnt signaling modulates Tbx1, Eya1, and Six1 expression, restricting neurogenesis in the otic vesicle. Dev Dyn (2010) 0.90
Transcription factor TBX1 overexpression induces downregulation of proteins involved in retinoic acid metabolism: a comparative proteomic analysis. J Proteome Res (2009) 0.89
Delayed fusion and altered gene expression contribute to semicircular canal defects in Chd7 deficient mice. Mech Dev (2012) 0.89
Conditional gene expression in the mouse inner ear using Cre-loxP. J Assoc Res Otolaryngol (2012) 0.89
Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency. Hum Mutat (2013) 0.87
Can you hear me now? Understanding vertebrate middle ear development. Front Biosci (Landmark Ed) (2011) 0.86
Classification and diagnosis of ear malformations. GMS Curr Top Otorhinolaryngol Head Neck Surg (2008) 0.84
In vivo genetic ablation of the periotic mesoderm affects cell proliferation survival and differentiation in the cochlea. Dev Biol (2007) 0.84
Segregating neural and mechanosensory fates in the developing ear: patterning, signaling, and transcriptional control. Cell Tissue Res (2014) 0.83
Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome. Birth Defects Res A Clin Mol Teratol (2010) 0.82
Tbx1 modulates endodermal and mesodermal differentiation from mouse induced pluripotent stem cells. Stem Cells Dev (2014) 0.79
Identification of putative retinoic acid target genes downstream of mesenchymal Tbx1 during inner ear development. Dev Dyn (2012) 0.79
Hard to swallow: Developmental biological insights into pediatric dysphagia. Dev Biol (2015) 0.78
Characterization of new otic enhancers of the pou3f4 gene reveal distinct signaling pathway regulation and spatio-temporal patterns. PLoS One (2010) 0.78
Genome-wide linkage study suggests a susceptibility locus for isolated bilateral microtia on 4p15.32-4p16.2. PLoS One (2014) 0.78
Biallelic expression of Tbx1 protects the embryo from developmental defects caused by increased receptor tyrosine kinase signaling. Dev Dyn (2012) 0.78
Fgf3 and Fgf16 expression patterns define spatial and temporal domains in the developing chick inner ear. Brain Struct Funct (2016) 0.77
Conditional and constitutive expression of a Tbx1-GFP fusion protein in mice. BMC Dev Biol (2013) 0.76
Dynamic epithelia of the developing vertebrate face. Curr Opin Genet Dev (2015) 0.76
Inactivation of Bmp4 from the Tbx1 expression domain causes abnormal pharyngeal arch artery and cardiac outflow tract remodeling. Cells Tissues Organs (2010) 0.76
Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome. Neural Plast (2016) 0.75
Genetic Advances in the Understanding of Microtia. J Pediatr Genet (2016) 0.75
Generalized lacZ expression with the ROSA26 Cre reporter strain. Nat Genet (1999) 55.63
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Role of TBX1 in human del22q11.2 syndrome. Lancet (2003) 4.45
Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Nature (2001) 4.41
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet (2001) 4.35
Targeting of cre to the Foxg1 (BF-1) locus mediates loxP recombination in the telencephalon and other developing head structures. Dev Biol (2000) 4.03
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The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns (1999) 2.58
Six1 is required for the early organogenesis of mammalian kidney. Development (2003) 2.47
Generation of Pax2-Cre mice by modification of a Pax2 bacterial artificial chromosome. Genesis (2004) 2.43
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A (2004) 2.41
The role of Six1 in mammalian auditory system development. Development (2003) 2.22
Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways. Hum Mol Genet (2002) 2.04
Interactions between Hox-negative cephalic neural crest cells and the foregut endoderm in patterning the facial skeleton in the vertebrate head. Development (2002) 2.00
Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. Hum Mol Genet (2004) 1.95
Revisiting cell fate specification in the inner ear. Curr Opin Neurobiol (2002) 1.82
Specification of the mammalian cochlea is dependent on Sonic hedgehog. Genes Dev (2002) 1.71
Tbx1 expression in pharyngeal epithelia is necessary for pharyngeal arch artery development. Development (2005) 1.57
Eya1 and Six1 are essential for early steps of sensory neurogenesis in mammalian cranial placodes. Development (2004) 1.54
The 22q11.2 deletion syndrome. Adv Pediatr (2001) 1.53
Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations. Development (2006) 1.49
Targeted mutagenesis of the POU-domain gene Brn4/Pou3f4 causes developmental defects in the inner ear. J Neurosci (1999) 1.45
Prx1 and Prx2 in skeletogenesis: roles in the craniofacial region, inner ear and limbs. Development (1998) 1.42
Suppression of neural fate and control of inner ear morphogenesis by Tbx1. Development (2004) 1.41
TBX1 is required for inner ear morphogenesis. Hum Mol Genet (2003) 1.30
Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation. Hum Mol Genet (2005) 1.19
Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects. Hum Mol Genet (2001) 1.19
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Audiological findings in patients with microdeletion 22q11 (di George/velocardiofacial syndrome). Br J Audiol (1999) 1.06
Regulatory regions from the Brn4 promoter direct LACZ expression to the developing forebrain and neural tube. Brain Res Dev Brain Res (2001) 1.03
Tbx1 is required for proper neural crest migration and to stabilize spatial patterns during middle and inner ear development. Mech Dev (2005) 0.96
Eya1 acts upstream of Tbx1, Neurogenin 1, NeuroD and the neurotrophins BDNF and NT-3 during inner ear development. Mech Dev (2005) 0.93
Mutation of the POU-domain gene Brn4/Pou3f4 affects middle-ear sound conduction in the mouse. Hear Res (2005) 0.88
Temporal bone pathology in DiGeorge's syndrome. Ann Otol Rhinol Laryngol (1984) 0.87
Temporal bone findings in the third and fourth pharyngeal pouch (DiGeorge) syndrome. Arch Otolaryngol (1974) 0.84
Pax3 and vertebrate development. Methods Mol Biol (2000) 0.82
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Mammalian cochlear supporting cells can divide and trans-differentiate into hair cells. Nature (2006) 2.65
Genomic disorders on 22q11. Am J Hum Genet (2002) 2.63
Generation of Pax2-Cre mice by modification of a Pax2 bacterial artificial chromosome. Genesis (2004) 2.43
Hey2 regulation by FGF provides a Notch-independent mechanism for maintaining pillar cell fate in the organ of Corti. Dev Cell (2009) 2.11
Olivocochlear innervation in the mouse: immunocytochemical maps, crossed versus uncrossed contributions, and transmitter colocalization. J Comp Neurol (2003) 2.05
Microduplication and triplication of 22q11.2: a highly variable syndrome. Am J Hum Genet (2005) 2.05
Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. Hum Mol Genet (2004) 1.95
Wnt signals mediate a fate decision between otic placode and epidermis. Development (2006) 1.94
Survival of adult spiral ganglion neurons requires erbB receptor signaling in the inner ear. J Neurosci (2004) 1.88
Essential role of retinoblastoma protein in mammalian hair cell development and hearing. Proc Natl Acad Sci U S A (2006) 1.78
Cross-regulation of Ngn1 and Math1 coordinates the production of neurons and sensory hair cells during inner ear development. Development (2007) 1.76
Pathophysiology of Meniere's syndrome: are symptoms caused by endolymphatic hydrops? Otol Neurotol (2005) 1.74
Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution. Genome Res (2003) 1.62
Osteoprotegerin in the inner ear may inhibit bone remodeling in the otic capsule. Laryngoscope (2005) 1.53
Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations. Development (2006) 1.49
Vascular defects and sensorineural deafness in a mouse model of Norrie disease. J Neurosci (2002) 1.44
Notch signaling augments the canonical Wnt pathway to specify the size of the otic placode. Development (2008) 1.42
Distribution of gentamicin in the guinea pig inner ear after local or systemic application. J Assoc Res Otolaryngol (2003) 1.41
Suppression of neural fate and control of inner ear morphogenesis by Tbx1. Development (2004) 1.41
Identification of downstream genetic pathways of Tbx1 in the second heart field. Dev Biol (2008) 1.39
A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis. J Clin Invest (2011) 1.39
Tbx1 affects asymmetric cardiac morphogenesis by regulating Pitx2 in the secondary heart field. Development (2006) 1.34
The first steps towards hearing: mechanisms of otic placode induction. Int J Dev Biol (2007) 1.34
Competence of cranial ectoderm to respond to Fgf signaling suggests a two-step model of otic placode induction. Development (2006) 1.31
BMP signaling is necessary for patterning the sensory and nonsensory regions of the developing mammalian cochlea. J Neurosci (2010) 1.22
In vitro growth and differentiation of mammalian sensory hair cell progenitors: a requirement for EGF and periotic mesenchyme. Dev Biol (2004) 1.18
Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes. Hum Mol Genet (2003) 1.17
Expression of mouse Foxi class genes in early craniofacial development. Dev Dyn (2004) 1.16
Loss of alpha CGRP reduces sound-evoked activity in the cochlear nerve. J Neurophysiol (2003) 1.15
Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome. Neurogenetics (2006) 1.14
SOX9 controls epithelial branching by activating RET effector genes during kidney development. Hum Mol Genet (2011) 1.13
T-genes and limb bud development. Am J Med Genet A (2006) 1.11
Wolfram syndrome: a clinicopathologic correlation. Acta Neuropathol (2009) 1.11
Sudden deafness: is it viral? ORL J Otorhinolaryngol Relat Spec (2008) 1.10
Pathology and pathophysiology of idiopathic sudden sensorineural hearing loss. Otol Neurotol (2005) 1.10
Canonical Notch signaling is not necessary for prosensory induction in the mouse cochlea: insights from a conditional mutant of RBPjkappa. J Neurosci (2011) 1.09
Osteoprotegrin knockout mice demonstrate abnormal remodeling of the otic capsule and progressive hearing loss. Laryngoscope (2006) 1.08
Dual embryonic origin of the mammalian otic vesicle forming the inner ear. Development (2011) 1.07
Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy. Hum Mol Genet (2006) 1.06
Effects of fixative and embedding medium on morphology and immunostaining of the cochlea. Audiol Neurootol (2008) 1.04
Dlx gene expression during chick inner ear development. J Comp Neurol (2005) 1.02
Isolation from cochlea of a novel human intronless gene with predominant fetal expression. J Assoc Res Otolaryngol (2004) 1.01
Techniques of celloidin removal from temporal bone sections. Ann Otol Rhinol Laryngol (2009) 1.01
Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome. Dev Disabil Res Rev (2008) 1.00
Distribution of type IV collagen in the cochlea in Alport syndrome. Arch Otolaryngol Head Neck Surg (2005) 1.00
Conditional deletion of Atoh1 reveals distinct critical periods for survival and function of hair cells in the organ of Corti. J Neurosci (2013) 0.99
Distinct roles for hindbrain and paraxial mesoderm in the induction and patterning of the inner ear revealed by a study of vitamin-A-deficient quail. Dev Biol (2005) 0.99
Wnt10a is involved in AER formation during chick limb development. Dev Dyn (2005) 0.98
Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment. Am J Med Genet A (2007) 0.98
Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome. Laryngoscope (2006) 0.97
Medial olivocochlear reflex interneurons are located in the posteroventral cochlear nucleus: a kainic acid lesion study in guinea pigs. J Comp Neurol (2005) 0.97
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes. Am J Hum Genet (2013) 0.96
Cooperative function of Tbx1 and Brn4 in the periotic mesenchyme is necessary for cochlea formation. J Assoc Res Otolaryngol (2008) 0.96
CARMA3 mediates lysophosphatidic acid-stimulated cytokine secretion by bronchial epithelial cells. Am J Respir Cell Mol Biol (2008) 0.96
Postsynaptic targets of type II auditory nerve fibers in the cochlear nucleus. J Assoc Res Otolaryngol (2004) 0.96
Traffic of genetic information between segmental duplications flanking the typical 22q11.2 deletion in velo-cardio-facial syndrome/DiGeorge syndrome. Genome Res (2005) 0.95
Tbx1 and Brn4 regulate retinoic acid metabolic genes during cochlear morphogenesis. BMC Dev Biol (2009) 0.94
Changes in cytochemistry of sensory and nonsensory cells in gentamicin-treated cochleas. J Assoc Res Otolaryngol (2003) 0.94
Changes in Sef levels influence auditory brainstem development and function. J Neurosci (2007) 0.93
Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome. Hum Mol Genet (2007) 0.92
Polyester wax: a new embedding medium for the histopathologic study of human temporal bones. Laryngoscope (2006) 0.91
Mesodermal Tbx1 is required for patterning the proximal mandible in mice. Dev Biol (2010) 0.91
Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia. Int J Pediatr Otorhinolaryngol (2010) 0.91
Canonical Wnt signaling modulates Tbx1, Eya1, and Six1 expression, restricting neurogenesis in the otic vesicle. Dev Dyn (2010) 0.90
Differences in gene expression between the otic capsule and other bones. Hear Res (2010) 0.88
3p-- syndrome defines a hearing loss locus in 3p25.3. Hear Res (2007) 0.88
Expression of the Foxi2 and Foxi3 transcription factors during development of chicken sensory placodes and pharyngeal arches. Gene Expr Patterns (2012) 0.86
The role of Atonal transcription factors in the development of mechanosensitive cells. Semin Cell Dev Biol (2013) 0.85
Analysis of FGF-dependent and FGF-independent pathways in otic placode induction. PLoS One (2013) 0.85
AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12. Genome Res (2007) 0.85
Molecular basis of inner ear induction. Curr Top Dev Biol (2003) 0.85
Ultrastructure of synaptic input to medial olivocochlear neurons. J Comp Neurol (2006) 0.85
Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome. Am J Med Genet A (2013) 0.84
Cleft palate, retrognathia and congenital heart disease in velo-cardio-facial syndrome: a phenotype correlation study. Int J Pediatr Otorhinolaryngol (2011) 0.84
Temporal bone histopathology in alport syndrome. Laryngoscope (2004) 0.84
Segregating neural and mechanosensory fates in the developing ear: patterning, signaling, and transcriptional control. Cell Tissue Res (2014) 0.83
Temporal bone histopathology in a case of sensorineural hearing loss caused by superficial siderosis of the central nervous system and treated by cochlear implantation. Otol Neurotol (2011) 0.82
EGFR signaling is required for regenerative proliferation in the cochlea: conservation in birds and mammals. Dev Biol (2012) 0.82
Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion. Am J Med Genet A (2015) 0.82
GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent. Int J Pediatr Otorhinolaryngol (2010) 0.81
Central auditory pathways mediating the rat middle ear muscle reflexes. Anat Rec A Discov Mol Cell Evol Biol (2006) 0.81
Diverse synaptic terminals on rat stapedius motoneurons. J Assoc Res Otolaryngol (2008) 0.81
Planar multipolar cells in the cochlear nucleus project to medial olivocochlear neurons in mouse. J Comp Neurol (2012) 0.81
Studies of otic capsule morphology and gene expression in the Mov13 mouse--an animal model of type I osteogenesis imperfecta. Audiol Neurootol (2007) 0.81
Association between autism spectrum disorder in individuals with velocardiofacial (22q11.2 deletion) syndrome and PRODH and COMT genotypes. Psychiatr Genet (2014) 0.81
Extralabyrinthine manifestations of DFNA9. J Assoc Res Otolaryngol (2010) 0.80
Human temporal bone consortium for research resource enhancement. Otol Neurotol (2008) 0.80
A morphologic study of Fluorogold labeled tensor tympani motoneurons in mice. Brain Res (2009) 0.79
Identification of putative retinoic acid target genes downstream of mesenchymal Tbx1 during inner ear development. Dev Dyn (2012) 0.79
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Am J Med Genet A (2012) 0.79
Generation of glycosylphosphatidylinositol anchor protein-deficient blood cells from human induced pluripotent stem cells. Stem Cells Transl Med (2013) 0.79
Human temporal bone consortium for research resource enhancement. J Assoc Res Otolaryngol (2008) 0.79