J Cohen, F Ghezzi, L Gonçalves, J D Fuentes, K J Paulyson, D M Sherer. Am J Perinatol 1995
Times Cited: 24
Times Cited: 24
Times Cited
Times Co-cited
Similarity
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
50
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
68
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
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
33
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
33
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
33
Prenatal sonographic diagnosis of Treacher Collins syndrome.
H Ochi, K Matsubara, M Ito, Y Kusanagi. Obstet Gynecol 1998
H Ochi, K Matsubara, M Ito, Y Kusanagi. Obstet Gynecol 1998
70
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
29
The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis).
D Poswillo. Br J Oral Surg 1975
D Poswillo. Br J Oral Surg 1975
29
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
29
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
29
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
29
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
29
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
31
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
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
25
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
25
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
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
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
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
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
25
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
20
Midtrimester sonographic diagnosis of mandibulofacial dysostosis.
J P Crane, H A Beaver. Am J Med Genet 1986
J P Crane, H A Beaver. Am J Med Genet 1986
27
Antenatal three-dimensional sonographic features of Treacher Collins syndrome.
Y Tanaka, K Kanenishi, H Tanaka, T Yanagihara, T Hata. Ultrasound Obstet Gynecol 2002
Y Tanaka, K Kanenishi, H Tanaka, T Yanagihara, T Hata. Ultrasound Obstet Gynecol 2002
35
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 mandibulofacial dysostosis; a new hereditary syndrome.
A FRANCESCHETTI, D KLEIN. Acta Ophthalmol (Copenh) 1949
A FRANCESCHETTI, D KLEIN. Acta Ophthalmol (Copenh) 1949
20
20
16
Prenatal three-dimensional sonographic images associated with Treacher Collins syndrome.
T Y Hsu, J J Hsu, S Y Chang, M S Chang. Ultrasound Obstet Gynecol 2002
T Y Hsu, J J Hsu, S Y Chang, M S Chang. Ultrasound Obstet Gynecol 2002
33
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
16
A cephalometric analysis of maxillary and mandibular parameters in Treacher Collins syndrome.
David K Chong, Dylan J Murray, Jonathan A Britto, Brian Tompson, Christopher R Forrest, John H Phillips. Plast Reconstr Surg 2008
David K Chong, Dylan J Murray, Jonathan A Britto, Brian Tompson, Christopher R Forrest, John H Phillips. Plast Reconstr Surg 2008
16
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
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
16
Crouzon syndrome: prenatal ultrasound diagnosis by binocular diameters.
M V Leo, L Suslak, V L Ganesh, A Adhate, J J Apuzzio. Obstet Gynecol 1991
M V Leo, L Suslak, V L Ganesh, A Adhate, J J Apuzzio. Obstet Gynecol 1991
18
Orbital diameters: a new parameter for prenatal diagnosis and dating.
K L Mayden, M Tortora, R L Berkowitz, M Bracken, J C Hobbins. Am J Obstet Gynecol 1982
K L Mayden, M Tortora, R L Berkowitz, M Bracken, J C Hobbins. Am J Obstet Gynecol 1982
12
Prenatal sonographic diagnosis of hemifacial microsomia (Goldenhar-Gorlin syndrome).
D E Tamas, B S Mahony, J D Bowie, W W Woodruff, H H Kay. J Ultrasound Med 1986
D E Tamas, B S Mahony, J D Bowie, W W Woodruff, H H Kay. J Ultrasound Med 1986
16
First-trimester prenatal diagnosis of Crouzon syndrome.
M Schwartz, S Kreiborg, F Skovby. Prenat Diagn 1996
M Schwartz, S Kreiborg, F Skovby. Prenat Diagn 1996
14
Exophthalmus--prenatal ultrasonic features for diagnosis of Crouzon syndrome.
Y Menashe, G Ben Baruch, O Rabinovitch, Y Shalev, M B Katzenlson, E Shalev. Prenat Diagn 1989
Y Menashe, G Ben Baruch, O Rabinovitch, Y Shalev, M B Katzenlson, E Shalev. Prenat Diagn 1989
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
12
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
12
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
12
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
12
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
12
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
12
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
12
Bone-anchored hearing aid (Baha) in patients with Treacher Collins syndrome: tips and pitfalls.
Pasquale Marsella, Alessandro Scorpecci, Concettina Pacifico, Luigi Tieri. Int J Pediatr Otorhinolaryngol 2011
Pasquale Marsella, Alessandro Scorpecci, Concettina Pacifico, Luigi Tieri. Int J Pediatr Otorhinolaryngol 2011
15
DHODH modulates transcriptional elongation in the neural crest and melanoma.
Richard Mark White, Jennifer Cech, Sutheera Ratanasirintrawoot, Charles Y Lin, Peter B Rahl, Christopher J Burke, Erin Langdon, Matthew L Tomlinson, Jack Mosher, Charles Kaufman,[...]. Nature 2011
Richard Mark White, Jennifer Cech, Sutheera Ratanasirintrawoot, Charles Y Lin, Peter B Rahl, Christopher J Burke, Erin Langdon, Matthew L Tomlinson, Jack Mosher, Charles Kaufman,[...]. Nature 2011
12
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.