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
Times Cited: 43
Times Cited: 43
Times Cited
Times Co-cited
Similarity
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
65
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
62
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
The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis).
D Poswillo. Br J Oral Surg 1975
D Poswillo. Br J Oral Surg 1975
46
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
46
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
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
37
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
37
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
47
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
37
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
34
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
34
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
32
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
32
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
30
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
27
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
27
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
27
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
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
The mandibulofacial dysostosis; a new hereditary syndrome.
A FRANCESCHETTI, D KLEIN. Acta Ophthalmol (Copenh) 1949
A FRANCESCHETTI, D KLEIN. Acta Ophthalmol (Copenh) 1949
25
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
25
Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis.
K K Sulik, M C Johnston, S J Smiley, H S Speight, B E Jarvis. Am J Med Genet 1987
K K Sulik, M C Johnston, S J Smiley, H S Speight, B E Jarvis. Am J Med Genet 1987
23
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
23
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
23
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
23
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
20
Anatomical abnormalities in mandibulofacial dysostosis.
S W Herring, U F Rowlatt, S Pruzansky. Am J Med Genet 1979
S W Herring, U F Rowlatt, S Pruzansky. Am J Med Genet 1979
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
20
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
20
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
18
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
18
Recurrence of Treacher Collins' syndrome with sonographic findings.
D A Milligan, F E Harlass, P Duff, J N Kopelman. Mil Med 1994
D A Milligan, F E Harlass, P Duff, J N Kopelman. Mil Med 1994
50
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
16
Prenatal diagnosis of mandibulofacial dysostosis.
K H Nicolaides, D Johansson, D Donnai, C H Rodeck. Prenat Diagn 1984
K H Nicolaides, D Johansson, D Donnai, C H Rodeck. Prenat Diagn 1984
36
Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3.
E W Jabs, X Li, C A Coss, E W Taylor, D A Meyers, J L Weber. Genomics 1991
E W Jabs, X Li, C A Coss, E W Taylor, D A Meyers, J L Weber. Genomics 1991
16
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
29
A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q.
S K Loftus, S J Edwards, T Scherpbier-Heddema, K H Buetow, J J Wasmuth, M J Dixon. Hum Mol Genet 1993
S K Loftus, S J Edwards, T Scherpbier-Heddema, K H Buetow, J J Wasmuth, M J Dixon. Hum Mol Genet 1993
30
Disruption of the nucleolus mediates stabilization of p53 in response to DNA damage and other stresses.
Carlos P Rubbi, Jo Milner. EMBO J 2003
Carlos P Rubbi, Jo Milner. EMBO J 2003
16
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
27
Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2.
M J Dixon, J Dixon, D Raskova, M M Le Beau, R Williamson, K Klinger, G M Landes. Hum Mol Genet 1992
M J Dixon, J Dixon, D Raskova, M M Le Beau, R Williamson, K Klinger, G M Landes. Hum Mol Genet 1992
18
25
Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome.
P Edery, Y Manach, M Le Merrer, M Till, A Vignal, S Lyonnet, A Munnich. Am J Med Genet 1994
P Edery, Y Manach, M Le Merrer, M Till, A Vignal, S Lyonnet, A Munnich. Am J Med Genet 1994
37
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
22
Cranial paraxial mesoderm and neural crest cells of the mouse embryo: co-distribution in the craniofacial mesenchyme but distinct segregation in branchial arches.
P A Trainor, P P Tam. Development 1995
P A Trainor, P P Tam. Development 1995
11
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
15
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
11
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
16
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.