P E Ellis, M Dawson, M J Dixon. J Orthod 2002
Times Cited: 24
Times Cited: 24
Times Cited
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Similarity
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
62
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
62
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group.
. Nat Genet 1996
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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
58
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
50
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
41
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
33
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
29
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
Jill Dixon, Ian Ellis, Armand Bottani, Karen Temple, Michael James Dixon. Am J Med Genet A 2004
29
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
25
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
25
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
25
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
25
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
25
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
25
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
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
20
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
20
The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis).
D Poswillo. Br J Oral Surg 1975
D Poswillo. Br J Oral Surg 1975
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The mandibulofacial dysostosis; a new hereditary syndrome.
A FRANCESCHETTI, D KLEIN. Acta Ophthalmol (Copenh) 1949
A FRANCESCHETTI, D KLEIN. Acta Ophthalmol (Copenh) 1949
20
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
20
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
20
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
20
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
20
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
16
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
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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
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Prenatal sonographic diagnosis of Treacher Collins syndrome: a case and review of the literature.
J Cohen, F Ghezzi, L Gonçalves, J D Fuentes, K J Paulyson, D M Sherer. Am J Perinatol 1995
J Cohen, F Ghezzi, L Gonçalves, J D Fuentes, K J Paulyson, D M Sherer. Am J Perinatol 1995
16
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
Listening to silence and understanding nonsense: exonic mutations that affect splicing.
Luca Cartegni, Shern L Chew, Adrian R Krainer. Nat Rev Genet 2002
Luca Cartegni, Shern L Chew, Adrian R Krainer. Nat Rev Genet 2002
16
Mandibulo-facial dysostosis. (Treacher-Collins syndrome).
L E Fazen, J Elmore, H L Nadler. Am J Dis Child 1967
L E Fazen, J Elmore, H L Nadler. Am J Dis Child 1967
12
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
12
Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients.
B R Rollnick, C I Kaye, K Nagatoshi, W Hauck, A O Martin. Am J Med Genet 1987
B R Rollnick, C I Kaye, K Nagatoshi, W Hauck, A O Martin. Am J Med Genet 1987
12
Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1.
M J Dixon, J Dixon, T Houseal, M Bhatt, D C Ward, K Klinger, G M Landes. Am J Hum Genet 1993
M J Dixon, J Dixon, T Houseal, M Bhatt, D C Ward, K Klinger, G M Landes. Am J Hum Genet 1993
12
The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.
M J Dixon, A P Read, D Donnai, A Colley, J Dixon, R Williamson. Am J Hum Genet 1991
M J Dixon, A P Read, D Donnai, A Colley, J Dixon, R Williamson. Am J Hum Genet 1991
12
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
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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
12
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
12
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
12
A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon.
D Macaya, S H Katsanis, T W Hefferon, S Audlin, N J Mendelsohn, J Roggenbuck, G R Cutting. Am J Med Genet A 2009
D Macaya, S H Katsanis, T W Hefferon, S Audlin, N J Mendelsohn, J Roggenbuck, G R Cutting. Am J Med Genet A 2009
12
Detection of a novel silent deletion, a missense mutation and a nonsense mutation in TCOF1.
Hirotaka Fujioka, Tadashi Ariga, Katsumi Horiuchi, Satoshi Ishikiriyama, Kimie Oyama, Makoto Otsu, Kunihiro Kawashima, Yuhei Yamamoto, Tsuneki Sugihara, Yukio Sakiyama. Pediatr Int 2008
Hirotaka Fujioka, Tadashi Ariga, Katsumi Horiuchi, Satoshi Ishikiriyama, Kimie Oyama, Makoto Otsu, Kunihiro Kawashima, Yuhei Yamamoto, Tsuneki Sugihara, Yukio Sakiyama. Pediatr Int 2008
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Substrate specificity determinants for casein kinase II as deduced from studies with synthetic peptides.
E A Kuenzel, J A Mulligan, J Sommercorn, E G Krebs. J Biol Chem 1987
E A Kuenzel, J A Mulligan, J Sommercorn, E G Krebs. J Biol Chem 1987
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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
8
Effects of retinoic acid on the development of the facial skeleton in hamsters: early changes involving cranial neural crest cells.
M J Wiley, P Cauwenbergs, I M Taylor. Acta Anat (Basel) 1983
M J Wiley, P Cauwenbergs, I M Taylor. Acta Anat (Basel) 1983
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Review and hypotheses: somatic mosaicism: observations related to clinical genetics.
J G Hall. Am J Hum Genet 1988
J G Hall. Am J Hum Genet 1988
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Prenatal ultrasonic diagnosis of mandibulofacial dysostosis (Treacher Collins syndrome).
I Meizner, R Carmi, M Katz. J Clin Ultrasound 1991
I Meizner, R Carmi, M Katz. J Clin Ultrasound 1991
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Prenatal diagnosis of mandibulofacial dysostosis.
K H Nicolaides, D Johansson, D Donnai, C H Rodeck. Prenat Diagn 1984
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10
Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging.
S J Edwards, A Fowlie, M P Cust, D T Liu, I D Young, M J Dixon. J Med Genet 1996
S J Edwards, A Fowlie, M P Cust, D T Liu, I D Young, M J Dixon. J Med Genet 1996
8
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
12
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