A citation-based method for searching scientific literature

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
Times Cited: 77







List of co-cited articles
311 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity




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
112
48

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
97
44


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
73
41

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
236
38

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
180
36

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
59
45

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
192
32


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
59
35


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
31
67

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
43
46

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
37
54

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
66



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
283
23



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
27
55

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
87
19

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
32
46

Mutation testing in Treacher Collins Syndrome.
P E Ellis, M Dawson, M J Dixon. J Orthod 2002
24
58


The mandibulofacial dysostosis; a new hereditary syndrome.
A FRANCESCHETTI, D KLEIN. Acta Ophthalmol (Copenh) 1949
126
14

The ear deformities in mandibulofacial dysostosis (Treacher Collins syndrome).
P D Phelps, D Poswillo, G A Lloyd. Clin Otolaryngol Allied Sci 1981
74
13

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
34
29

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
122
11

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
196
11

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
14
64

Treacher Collins syndrome: etiology, pathogenesis and prevention.
Paul A Trainor, Jill Dixon, Michael J Dixon. Eur J Hum Genet 2009
115
11

Clinical features, treatment and genetic background of Treacher Collins syndrome.
Bozena Marszałek, Piotr Wójcicki, Kazimierz Kobus, Wiesław H Trzeciak. J Appl Genet 2002
45
17

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
27
29


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
14
57

Facial dysostoses: Etiology, pathogenesis and management.
Paul A Trainor, Brian T Andrews. Am J Med Genet C Semin Med Genet 2013
58
13

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome.
Chiara Conte, Maria Rosaria D'Apice, Fabrizio Rinaldi, Stefano Gambardella, Federica Sangiuolo, Giuseppe Novelli. BMC Med Genet 2011
20
40

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
67
10

Treacher Collins syndrome.
M J Dixon. Hum Mol Genet 1996
64
10

MANDIBULOFACIAL DYSOSTOSIS, A FAMILIAL STUDY OF FIVE GENERATIONS.
S ROVIN, S F DACHI, D B BORENSTEIN, W B COTTER. J Pediatr 1964
71
9

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
15
46


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
24
29


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
63
11

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
32
18

Mandibulofacial dysostosis in Hutterite sibs: a possible recessive trait.
R B Lowry, K Morgan, T M Holmes, P J Metcalf, G F Stauffer. Am J Med Genet 1985
18
33


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.