A citation-based method for searching scientific literature

Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome.
Jill Dixon, Ian Ellis, Armand Bottani, Karen Temple, Michael James Dixon. Am J Med Genet A 2004
Times Cited: 27



The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor.
Benigno C Valdez, Dale Henning, Rolando B So, Jill Dixon, Michael J Dixon. Proc Natl Acad Sci U S A 2004
Times Cited: 189




List of shared articles



Times cited

Cloning and functional characterization of the Xenopus orthologue of the Treacher Collins syndrome (TCOF1) gene product.
Bianca Gonzales, Hushan Yang, Dale Henning, Benigno C Valdez. Gene 2005
3

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Marie Vincent, David Geneviève, Agnès Ostertag, Sandrine Marlin, Didier Lacombe, Dominique Martin-Coignard, Christine Coubes, Albert David, Stanislas Lyonnet, Catheline Vilain,[...]. Genet Med 2016
71

The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome.
Kristin E Noack Watt, Annita Achilleos, Cynthia L Neben, Amy E Merrill, Paul A Trainor. PLoS Genet 2016
51

Treacher Collins Syndrome: the genetics of a craniofacial disease.
Sameep Kadakia, Samuel N Helman, Arvind K Badhey, Masoud Saman, Yadranko Ducic. Int J Pediatr Otorhinolaryngol 2014
42

The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation.
Bianca Gonzales, Dale Henning, Rolando B So, Jill Dixon, Michael J Dixon, Benigno C Valdez. Hum Mol Genet 2005
92

Treacher Collins syndrome.
Jill Dixon, Paul Trainor, Michael J Dixon. Orthod Craniofac Res 2007
55

Phenotype Analysis and Genetic Study of Chinese Patients With Treacher Collins Syndrome.
Meng Lu, Bin Yang, Zixiang Chen, Haiyue Jiang, Bo Pan. Cleft Palate Craniofac J 2021
0

Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.
Michael Bowman, Michael Oldridge, Caroline Archer, Anthony O'Rourke, Joanna McParland, Roel Brekelmans, Anneke Seller, Tracy Lester. Eur J Hum Genet 2012
34

First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome.
J Beygo, K Buiting, S Seland, H-J Lüdecke, U Hehr, C Lich, B Prager, D R Lohmann, D Wieczorek. Mol Syndromol 2012
13

Tcof1-Related Molecular Networks in Treacher Collins Syndrome.
Jiewen Dai, Jiawen Si, Minjiao Wang, Li Huang, Bing Fang, Jun Shi, Xudong Wang, Guofang Shen. J Craniofac Surg 2016
11

The surgical management of Treacher Collins syndrome.
Alistair R M Cobb, Ben Green, Daljit Gill, Peter Ayliffe, Timothy W Lloyd, Neil Bulstrode, David J Dunaway. Br J Oral Maxillofac Surg 2014
21

Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses.
Karla Terrazas, Jill Dixon, Paul A Trainor, Michael J Dixon. Wiley Interdiscip Rev Dev Biol 2017
15

Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome.
Bożena Anna Marszałek-Kruk, Piotr Wójcicki, Robert Smigiel, Wiesław H Trzeciak. J Appl Genet 2012
6

TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature.
Alessandra Splendore, Roberto D Fanganiello, Cibele Masotti, Lucas S C Morganti, M Rita Passos-Bueno. Hum Mutat 2005
30

The genetics of canine skull shape variation.
Jeffrey J Schoenebeck, Elaine A Ostrander. Genetics 2013
49

Reduced TCOF1 mRNA level in a rhesus macaque with Treacher Collins-like syndrome: further evidence for haploinsufficiency of treacle as the cause of disease.
Kathryn H Shows, Christy Ward, Laura Summers, Lin Li, Gregory R Ziegler, Andrew G Hendrickx, Rita Shiang. Mamm Genome 2006
3


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