Published in Hum Mutat on May 01, 2005
Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome. BMC Med Genet (2011) 0.90
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients. BMC Med Genet (2009) 0.90
First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome. Mol Syndromol (2012) 0.89
Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome. Eur J Hum Genet (2012) 0.86
Fishing the molecular bases of Treacher Collins syndrome. PLoS One (2012) 0.83
Genome analysis of the domestic dog (Korean Jindo) by massively parallel sequencing. DNA Res (2012) 0.82
Regulation of the mouse Treacher Collins syndrome homolog (Tcof1) promoter through differential repression of constitutive expression. DNA Cell Biol (2008) 0.76
Reduced TCOF1 mRNA level in a rhesus macaque with Treacher Collins-like syndrome: further evidence for haploinsufficiency of treacle as the cause of disease. Mamm Genome (2006) 0.76
Mutational Analysis of TCOF1, GSC, and HOXA2 in Patients With Treacher Collins Syndrome. J Craniofac Surg (2016) 0.75
Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses. Wiley Interdiscip Rev Dev Biol (2017) 0.75
Reconstruction of large cranial defects in nonimmunosuppressed experimental design with human dental pulp stem cells. J Craniofac Surg (2008) 1.28
Syndromes of the first and second pharyngeal arches: A review. Am J Med Genet A (2009) 1.04
Human stem cell cultures from cleft lip/palate patients show enrichment of transcripts involved in extracellular matrix modeling by comparison to controls. Stem Cell Rev (2011) 0.91
Region 8q24 is a susceptibility locus for nonsyndromic oral clefting in Brazil. Birth Defects Res A Clin Mol Teratol (2012) 0.91
Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families. Am J Med Genet A (2003) 0.90
Targeting MAGE-C1/CT7 expression increases cell sensitivity to the proteasome inhibitor bortezomib in multiple myeloma cell lines. PLoS One (2011) 0.83
IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population. Am J Med Genet A (2012) 0.82
Intratumoral Genetic Heterogeneity in Rectal Cancer: Are Single Biopsies representative of the entirety of the tumor? Ann Surg (2017) 0.79
A family with McLeod syndrome and calpainopathy with clinically overlapping diseases. Neurology (2005) 0.79
Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion. Birth Defects Res A Clin Mol Teratol (2006) 0.78
Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome. PLoS One (2013) 0.77
Analysis of allelic differential expression in the human genome using allele-specific serial analysis of gene expression tags. Genome (2011) 0.75