1 |
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.
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61
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Splendore A...Passos-Bueno MR
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11013442 |
2000 |
2 |
TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region.
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54
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Wise CA...Jabs EW
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9096354 |
1997 |
3 |
The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.
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61
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Edwards SJ...Dixon MJ
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9042910 |
1997 |
4 |
Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene.
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54
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Li C...Bourgeois J
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19050407 |
2009 |
5 |
Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1.
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6
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Horiuchi K...Sugihara T
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15214011 |
2004 |
6 |
The hutterite variant of Treacher Collins syndrome: a 28-year-old story solved.
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6
61
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Caluseriu O...Innes AM
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24108658 |
2013 |
7 |
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
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56
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Teber OA...Wieczorek D
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15340364 |
2004 |
8 |
Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome.
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54
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Shoo BA...Jabs EW
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15039977 |
2004 |
9 |
Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders.
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24
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Calo E...Wysocka J
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29364875 |
2018 |
10 |
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
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61
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Vincent M...Collet C
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25790162 |
2016 |
11 |
Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
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6
24
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Schaefer E...Doray B
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24603435 |
2014 |
12 |
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
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61
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Dauwerse JG...Wieczorek D
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21131976 |
2011 |
13 |
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group.
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6
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8563749 |
1996 |
14 |
Mandibulofacial dysostosis in Hutterite sibs: a possible recessive trait.
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6
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Lowry RB...Stauffer GF
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4061487 |
1985 |
15 |
Mandibulo-facial dysostosis. (Treacher-Collins syndrome).
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61
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Fazen LE...Nadler HL
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6024864 |
1967 |
16 |
Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.
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56
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Bowman M...Lester T
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22317976 |
2012 |
17 |
Defects in middle ear cavitation cause conductive hearing loss in the Tcof1 mutant mouse.
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61
56
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Richter CA...Tucker AS
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20106873 |
2010 |
18 |
Novel mutation in the 5' splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome.
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54
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Marszalek B...Trzeciak WH
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14598341 |
2003 |
19 |
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.
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6
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Splendore A...Passos-Bueno MR
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12114482 |
2002 |
20 |
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.
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61
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Jones NC...Newgreen DF
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10545604 |
1999 |
21 |
Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1.
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61
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Dixon MJ...Landes GM
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8488840 |
1993 |
22 |
Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2.
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61
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Dixon MJ...Landes GM
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1303194 |
1992 |
23 |
A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon.
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24
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Macaya D...Cutting GR
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19572402 |
2009 |
24 |
Treacher Collins syndrome: etiology, pathogenesis and prevention.
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61
24
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Trainor PA...Dixon MJ
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19107148 |
2009 |
25 |
The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation.
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54
24
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Gonzales B...Valdez BC
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15930015 |
2005 |
26 |
Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis.
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61
24
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Horiuchi K...Sakiyama Y
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15759264 |
2005 |
27 |
Delayed-onset infantile cataracts in a case of Treacher Collins syndrome.
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61
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Biebesheimer JB...Fredrick DR
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15534141 |
2004 |
28 |
Treacher Collins Syndrome
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6
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Katsanis SH...Jabs EW
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20301704 |
2004 |
29 |
Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome.
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54
24
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Dixon J...Dixon MJ
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15150774 |
2004 |
30 |
Parental origin of mutations in sporadic cases of Treacher Collins syndrome.
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61
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Splendore A...Passos-Bueno MR
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12939661 |
2003 |
31 |
Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome.
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54
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Hayano T...Takahashi N
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12777385 |
2003 |
32 |
Mutation testing in Treacher Collins Syndrome.
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54
24
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Ellis PE...Dixon MJ
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12444270 |
2002 |
33 |
Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome.
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61
24
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Isaac C...Meier UT
|
10982400 |
2000 |
34 |
Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome.
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54
24
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Dixon J...Dixon MJ
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10888597 |
2000 |
35 |
Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle.
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61
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Marsh KL...Dixon MJ
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9736782 |
1998 |
36 |
Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene.
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24
61
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Gladwin AJ...Dixon MJ
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8894686 |
1996 |
37 |
Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging.
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61
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Edwards SJ...Dixon MJ
|
8818950 |
1996 |
38 |
Treacher Collins syndrome.
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61
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Dixon MJ
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8875242 |
1996 |
39 |
Treacher Collins syndrome: phenotypic variability in a family including an infant with arhinia and uveal colobomas.
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61
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Hansen M...Mulliken JB
|
8741923 |
1996 |
40 |
Mild mandibulofacial dysostosis in a child with a deletion of 3p.
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56
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Arn PH...Jabs EW
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8322816 |
1993 |
41 |
Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3.
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61
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Jabs EW...Weber JL
|
1765376 |
1991 |
42 |
Chromosomal deletion 4p15.32----p14 in a Treacher Collins syndrome patient: exclusion of the disease locus from and mapping of anonymous DNA sequences to this region.
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61
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Jabs EW...Rosenbaum KN
|
1684950 |
1991 |
43 |
The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.
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61
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Dixon MJ...Williamson R
|
1676560 |
1991 |
44 |
Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions.
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61
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Dixon MJ...Callen D
|
1671319 |
1991 |
45 |
Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis.
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61
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Sulik KK...Jarvis BE
|
3474899 |
1987 |
46 |
Older paternal age and fresh gene mutation: data on additional disorders.
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61
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Jones KL...Quan L
|
1110452 |
1975 |
47 |
THE TREACHER-COLLINS SYNDROME.
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56
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FERNANDEZ AO...RONIS ML
|
14216013 |
1964 |
48 |
Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome.
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24
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Giabicani E...Dubern B
|
28927774 |
2017 |
49 |
The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome.
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24
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Noack Watt KE...Trainor PA
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27448281 |
2016 |
50 |
Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability.
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61
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Vincent M...Genevieve D
|
23695276 |
2014 |