- ►nih.gov BC Valdez, D Henning, RB So, J Dixon, MJ … - Proceedings of the National Academy of Sciences, 2004 - National Acad Sciences Treacher Collins syndrome (TCS) is an autosomal dominant disorder characterized
by an abnormality of craniofacial development that arises during early
embryogenesis. TCS is caused by mutations in the gene TCOF1, which encodes ... Cited by 51 - Related articles - BL Direct - All 11 versions
- ►nih.gov [PDF] MJ Dixon - British Medical Journal - jmg.bmj.com Clinical features Treacher Collins syndrome is an autosomal dominant disorder
ofcraniofacial development which has an incidence of approximately one in 50000
live births.45 The disorder is char- acterised by (1) abnormalities of the ... Cited by 50 - Related articles - BL Direct - All 11 versions
DPC Rice - Current molecular medicine, 2005 - ingentaconnect.com Departments of Craniofacial Development and Orthodontics, King's College London,
London, UK Abstract: Advances in developmental biology combined with progress in
human genetics are helping us decipher how the craniofacial region develops ... Cited by 30 - Related articles - BL Direct - All 4 versions
- ►oxfordjournals.org B Gonzales, D Henning, RB So, J Dixon, MJ … - Human molecular genetics, 2005 - Oxford Univ Press Treacher Collins syndrome (TCS) is characterized by defects in craniofacial
development, which results from mutations in the TCOF1 gene. TCOF1 encodes the
nucleolar phosphoprotein treacle, which interacts with upstream binding ... Cited by 29 - Related articles - BL Direct - All 6 versions
ÖA Teber, G Gillessen-Kaesbach, S Fischer, … - European Journal of Human Genetics, 2004 - nature.com To define the range of phenotypic expression in Treacher Collins syndrome (TCS;
Franceschetti–Klein syndrome), we performed mutation analysis in the TCOF1
gene in 46 patients with tentative diagnosis of TCS and evaluated the ... Cited by 24 - Related articles - BL Direct - All 5 versions
J Dixon, MJ Dixon - Developmental Dynamics, 2004 - interscience.wiley.com Treacher Collins syndrome (TCS) is a craniofacial disorder that results from
mutations in TCOF1, which encodes the nucleolar protein Treacle. The severity of
the clinical features exhibits wide variation and includes hypoplasia of ... Cited by 23 - Related articles - All 3 versions
A Splendore, MR Passos-Bueno, EW Jabs, L … - American journal of medical genetics, 2002 - cat.inist.fr TCOF 1 mutations excluded from a role in other first and second branchial
arch-related disorders. Alessandra SPLENDORE, Maria Rita ... Cited by 16 - Related articles - BL Direct - All 4 versions
A Splendore, EW Jabs, TM Félix, MR Passos … - European Journal of Human Genetics, 2003 - nature.com In some autosomal dominant conditions, there is a correlation between new
mutations and paternal age, with new mutations arising almost exclusively in the
male germ line. To test this hypothesis in Treacher Collins syndrome, we ... Cited by 13 - Related articles - BL Direct - All 3 versions
J Dixon, I Ellis, A Bottani, K Temple, MJ Dixon - American Journal of Medical Genetics, 2004 - interscience.wiley.com Treacher Collins syndrome (TCS) is an autosomal dominant disorder of facial
development, which results from mutations in TCOF1. TCS comprises conductive
hearing loss, hypoplasia of the mandible and maxilla, downward sloping ... Cited by 11 - Related articles - BL Direct - All 5 versions
A Splendore, RD Fanganiello, C Masotti, LSC … - Human mutation, 2005 - interscience.wiley.com Recently, a novel exon was described in TCOF1 that, although alternatively
spliced, is included in the major protein isoform. In addition, most published
mutations in this gene do not conform to current mutation nomenclature ... Cited by 10 - Related articles - All 4 versions
