Jill Dixon, Ian Ellis, Armand Bottani, Karen Temple, Michael James Dixon. Am J Med Genet A 2004
Times Cited: 27
Times Cited: 27
Times Cited
Times Co-cited
Similarity
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
Benigno C Valdez, Dale Henning, Rolando B So, Jill Dixon, Michael J Dixon. Proc Natl Acad Sci U S A 2004
59
TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region.
C A Wise, L C Chiang, W A Paznekas, M Sharma, M M Musy, J A Ashley, M Lovett, E W Jabs. Proc Natl Acad Sci U S A 1997
C A Wise, L C Chiang, W A Paznekas, M Sharma, M M Musy, J A Ashley, M Lovett, E W Jabs. Proc Natl Acad Sci U S A 1997
59
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group.
. Nat Genet 1996
. Nat Genet 1996
59
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.
A Splendore, E O Silva, L G Alonso, A Richieri-Costa, N Alonso, A Rosa, G Carakushanky, D P Cavalcanti, D Brunoni, M R Passos-Bueno. Hum Mutat 2000
A Splendore, E O Silva, L G Alonso, A Richieri-Costa, N Alonso, A Rosa, G Carakushanky, D P Cavalcanti, D Brunoni, M R Passos-Bueno. Hum Mutat 2000
55
The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.
S J Edwards, A J Gladwin, M J Dixon. Am J Hum Genet 1997
S J Edwards, A J Gladwin, M J Dixon. Am J Hum Genet 1997
51
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
Johannes G Dauwerse, Jill Dixon, Saskia Seland, Claudia A L Ruivenkamp, Arie van Haeringen, Lies H Hoefsloot, Dorien J M Peters, Agnes Clement-de Boers, Cornelia Daumer-Haas, Robert Maiwald,[...]. Nat Genet 2011
Johannes G Dauwerse, Jill Dixon, Saskia Seland, Claudia A L Ruivenkamp, Arie van Haeringen, Lies H Hoefsloot, Dorien J M Peters, Agnes Clement-de Boers, Cornelia Daumer-Haas, Robert Maiwald,[...]. Nat Genet 2011
51
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
Ozge Altug Teber, Gabriele Gillessen-Kaesbach, Sven Fischer, Stefan Böhringer, Beate Albrecht, Angelika Albert, Mine Arslan-Kirchner, Eric Haan, Monika Hagedorn-Greiwe, Christof Hammans,[...]. Eur J Hum Genet 2004
Ozge Altug Teber, Gabriele Gillessen-Kaesbach, Sven Fischer, Stefan Böhringer, Beate Albrecht, Angelika Albert, Mine Arslan-Kirchner, Eric Haan, Monika Hagedorn-Greiwe, Christof Hammans,[...]. Eur J Hum Genet 2004
48
Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle.
A Splendore, E W Jabs, M R Passos-Bueno. J Med Genet 2002
A Splendore, E W Jabs, M R Passos-Bueno. J Med Genet 2002
44
Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities.
Jill Dixon, Natalie C Jones, Lisa L Sandell, Sachintha M Jayasinghe, Jennifer Crane, Jean-Philippe Rey, Michael J Dixon, Paul A Trainor. Proc Natl Acad Sci U S A 2006
Jill Dixon, Natalie C Jones, Lisa L Sandell, Sachintha M Jayasinghe, Jennifer Crane, Jean-Philippe Rey, Michael J Dixon, Paul A Trainor. Proc Natl Acad Sci U S A 2006
44
Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene.
A J Gladwin, J Dixon, S K Loftus, S Edwards, J J Wasmuth, R C Hennekam, M J Dixon. Hum Mol Genet 1996
A J Gladwin, J Dixon, S K Loftus, S Edwards, J J Wasmuth, R C Hennekam, M J Dixon. Hum Mol Genet 1996
40
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
Alessandra Splendore, Roberto D Fanganiello, Cibele Masotti, Lucas S C Morganti, M Rita Passos-Bueno. Hum Mutat 2005
40
Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons.
Rolando B So, Bianca Gonzales, Dale Henning, Jill Dixon, Michael J Dixon, Benigno C Valdez. Gene 2004
Rolando B So, Bianca Gonzales, Dale Henning, Jill Dixon, Michael J Dixon, Benigno C Valdez. Gene 2004
37
Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene.
J Dixon, S J Edwards, I Anderson, A Brass, P J Scambler, M J Dixon. Genome Res 1997
J Dixon, S J Edwards, I Anderson, A Brass, P J Scambler, M J Dixon. Genome Res 1997
33
Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome.
J Dixon, C Brakebusch, R Fässler, M J Dixon. Hum Mol Genet 2000
J Dixon, C Brakebusch, R Fässler, M J Dixon. Hum Mol Genet 2000
33
Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein Treacle.
Jill Dixon, Michael James Dixon. Dev Dyn 2004
Jill Dixon, Michael James Dixon. Dev Dyn 2004
33
Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome.
C Isaac, K L Marsh, W A Paznekas, J Dixon, M J Dixon, E W Jabs, U T Meier. Mol Biol Cell 2000
C Isaac, K L Marsh, W A Paznekas, J Dixon, M J Dixon, E W Jabs, U T Meier. Mol Biol Cell 2000
33
Treacher Collins syndrome: etiology, pathogenesis and prevention.
Paul A Trainor, Jill Dixon, Michael J Dixon. Eur J Hum Genet 2009
Paul A Trainor, Jill Dixon, Michael J Dixon. Eur J Hum Genet 2009
33
Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome.
Toshiya Hayano, Mitsuaki Yanagida, Yoshio Yamauchi, Takashi Shinkawa, Toshiaki Isobe, Nobuhiro Takahashi. J Biol Chem 2003
Toshiya Hayano, Mitsuaki Yanagida, Yoshio Yamauchi, Takashi Shinkawa, Toshiaki Isobe, Nobuhiro Takahashi. J Biol Chem 2003
29
Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle.
K L Marsh, J Dixon, M J Dixon. Hum Mol Genet 1998
K L Marsh, J Dixon, M J Dixon. Hum Mol Genet 1998
29
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
Bianca Gonzales, Dale Henning, Rolando B So, Jill Dixon, Michael J Dixon, Benigno C Valdez. Hum Mol Genet 2005
29
Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function.
Natalie C Jones, Megan L Lynn, Karin Gaudenz, Daisuke Sakai, Kazushi Aoto, Jean-Phillipe Rey, Earl F Glynn, Lacey Ellington, Chunying Du, Jill Dixon,[...]. Nat Med 2008
Natalie C Jones, Megan L Lynn, Karin Gaudenz, Daisuke Sakai, Kazushi Aoto, Jean-Phillipe Rey, Earl F Glynn, Lacey Ellington, Chunying Du, Jill Dixon,[...]. Nat Med 2008
29
Treacher Collins syndrome: correlation between clinical and genetic linkage studies.
M J Dixon, H A Marres, S J Edwards, J Dixon, C W Cremers. Clin Dysmorphol 1994
M J Dixon, H A Marres, S J Edwards, J Dixon, C W Cremers. Clin Dysmorphol 1994
25
The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus.
S T Winokur, R Shiang. Hum Mol Genet 1998
S T Winokur, R Shiang. Hum Mol Genet 1998
25
29
Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1.
J Dixon, K Hovanes, R Shiang, M J Dixon. Hum Mol Genet 1997
J Dixon, K Hovanes, R Shiang, M J Dixon. Hum Mol Genet 1997
25
The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis).
D Poswillo. Br J Oral Surg 1975
D Poswillo. Br J Oral Surg 1975
22
The Treacher Collins syndrome. A clinical, radiological, and genetic linkage study on two pedigrees.
H A Marres, C W Cremers, M J Dixon, P L Huygen, F B Joosten. Arch Otolaryngol Head Neck Surg 1995
H A Marres, C W Cremers, M J Dixon, P L Huygen, F B Joosten. Arch Otolaryngol Head Neck Surg 1995
22
Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
Elise Schaefer, Corinne Collet, David Genevieve, Marie Vincent, Dietmar R Lohmann, Elodie Sanchez, Chantal Bolender, Marie-Madeleine Eliot, Gudrun Nürnberg, Maria-Rita Passos-Bueno,[...]. Genet Med 2014
Elise Schaefer, Corinne Collet, David Genevieve, Marie Vincent, Dietmar R Lohmann, Elodie Sanchez, Chantal Bolender, Marie-Madeleine Eliot, Gudrun Nürnberg, Maria-Rita Passos-Bueno,[...]. Genet Med 2014
22
The mandibulofacial dysostosis; a new hereditary syndrome.
A FRANCESCHETTI, D KLEIN. Acta Ophthalmol (Copenh) 1949
A FRANCESCHETTI, D KLEIN. Acta Ophthalmol (Copenh) 1949
18
Parental origin of mutations in sporadic cases of Treacher Collins syndrome.
Alessandra Splendore, Ethylin Wang Jabs, Têmis Maria Félix, Maria Rita Passos-Bueno. Eur J Hum Genet 2003
Alessandra Splendore, Ethylin Wang Jabs, Têmis Maria Félix, Maria Rita Passos-Bueno. Eur J Hum Genet 2003
18
The ear deformities in mandibulofacial dysostosis (Treacher Collins syndrome).
P D Phelps, D Poswillo, G A Lloyd. Clin Otolaryngol Allied Sci 1981
P D Phelps, D Poswillo, G A Lloyd. Clin Otolaryngol Allied Sci 1981
18
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
Michael Bowman, Michael Oldridge, Caroline Archer, Anthony O'Rourke, Joanna McParland, Roel Brekelmans, Anneke Seller, Tracy Lester. Eur J Hum Genet 2012
18
Facial dysostoses: Etiology, pathogenesis and management.
Paul A Trainor, Brian T Andrews. Am J Med Genet C Semin Med Genet 2013
Paul A Trainor, Brian T Andrews. Am J Med Genet C Semin Med Genet 2013
18
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
Marie Vincent, David Geneviève, Agnès Ostertag, Sandrine Marlin, Didier Lacombe, Dominique Martin-Coignard, Christine Coubes, Albert David, Stanislas Lyonnet, Catheline Vilain,[...]. Genet Med 2016
18
A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration.
R D Emes, C P Ponting. Hum Mol Genet 2001
R D Emes, C P Ponting. Hum Mol Genet 2001
14
Canine TCOF1; cloning, chromosome assignment and genetic analysis in dogs with different head types.
K E Haworth, I Islam, M Breen, W Putt, E Makrinou, M Binns, D Hopkinson, Y Edwards. Mamm Genome 2001
K E Haworth, I Islam, M Breen, W Putt, E Makrinou, M Binns, D Hopkinson, Y Edwards. Mamm Genome 2001
14
Clinical features, treatment and genetic background of Treacher Collins syndrome.
Bozena Marszałek, Piotr Wójcicki, Kazimierz Kobus, Wiesław H Trzeciak. J Appl Genet 2002
Bozena Marszałek, Piotr Wójcicki, Kazimierz Kobus, Wiesław H Trzeciak. J Appl Genet 2002
14
Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome.
Brenda A Shoo, Elizabeth McPherson, Ethylin Wang Jabs. Am J Med Genet A 2004
Brenda A Shoo, Elizabeth McPherson, Ethylin Wang Jabs. Am J Med Genet A 2004
33
Novel mutation in the 5' splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome.
Bozena Marszalek, Slawomir A Wisniewski, Piotr Wojcicki, Kazimierz Kobus, Wieslaw H Trzeciak. Am J Med Genet A 2003
Bozena Marszalek, Slawomir A Wisniewski, Piotr Wojcicki, Kazimierz Kobus, Wieslaw H Trzeciak. Am J Med Genet A 2003
26
Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis.
Katsumi Horiuchi, Tadashi Ariga, Hirotaka Fujioka, Kunihiro Kawashima, Yuhei Yamamoto, Hiroharu Igawa, Tsuneki Sugihara, Yukio Sakiyama. Am J Med Genet A 2005
Katsumi Horiuchi, Tadashi Ariga, Hirotaka Fujioka, Kunihiro Kawashima, Yuhei Yamamoto, Hiroharu Igawa, Tsuneki Sugihara, Yukio Sakiyama. Am J Med Genet A 2005
28
Older paternal age and fresh gene mutation: data on additional disorders.
K L Jones, D W Smith, M A Harvey, B D Hall, L Quan. J Pediatr 1975
K L Jones, D W Smith, M A Harvey, B D Hall, L Quan. J Pediatr 1975
14
A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction.
Cibele Masotti, Lucia M Armelin-Correa, Alessandra Splendore, Chin J Lin, Angela Barbosa, Mari C Sogayar, Maria Rita Passos-Bueno. Gene 2005
Cibele Masotti, Lucia M Armelin-Correa, Alessandra Splendore, Chin J Lin, Angela Barbosa, Mari C Sogayar, Maria Rita Passos-Bueno. Gene 2005
16
Relations and interactions between cranial mesoderm and neural crest populations.
Drew M Noden, Paul A Trainor. J Anat 2005
Drew M Noden, Paul A Trainor. J Anat 2005
14
Mammalian neurogenesis requires Treacle-Plk1 for precise control of spindle orientation, mitotic progression, and maintenance of neural progenitor cells.
Daisuke Sakai, Jill Dixon, Michael J Dixon, Paul A Trainor. PLoS Genet 2012
Daisuke Sakai, Jill Dixon, Michael J Dixon, Paul A Trainor. PLoS Genet 2012
14
Detection of an appropriate kinase activity in branchial arches I and II that coincides with peak expression of the Treacher Collins syndrome gene product, treacle.
N C Jones, P G Farlie, J Minichiello, D F Newgreen. Hum Mol Genet 1999
N C Jones, P G Farlie, J Minichiello, D F Newgreen. Hum Mol Genet 1999
15
MANDIBULOFACIAL DYSOSTOSIS, A FAMILIAL STUDY OF FIVE GENERATIONS.
S ROVIN, S F DACHI, D B BORENSTEIN, W B COTTER. J Pediatr 1964
S ROVIN, S F DACHI, D B BORENSTEIN, W B COTTER. J Pediatr 1964
11
Treacher Collins syndrome: current evaluation, treatment, and future directions.
J C Posnick, R L Ruiz. Cleft Palate Craniofac J 2000
J C Posnick, R L Ruiz. Cleft Palate Craniofac J 2000
11
Treacher Collins syndrome with a de Novo 5-bp deletion in the TCOF1 gene.
Pen-Hua Su, Jia-Yu Chen, Suh-Jen Chen, Ju-Shan Yu. J Formos Med Assoc 2006
Pen-Hua Su, Jia-Yu Chen, Suh-Jen Chen, Ju-Shan Yu. J Formos Med Assoc 2006
30
Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention.
Paul A Trainor. Am J Med Genet A 2010
Paul A Trainor. Am J Med Genet A 2010
11
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.
Cibele Masotti, Camila C Ornelas, Alessandra Splendore-Gordonos, Ricardo Moura, Têmis M Félix, Nivaldo Alonso, Anamaria A Camargo, Maria Rita Passos-Bueno. BMC Med Genet 2009
Cibele Masotti, Camila C Ornelas, Alessandra Splendore-Gordonos, Ricardo Moura, Têmis M Félix, Nivaldo Alonso, Anamaria A Camargo, Maria Rita Passos-Bueno. BMC Med Genet 2009
21
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.