-
1
-
-
0028823309
-
Prenatal sonographic diagnosis of Treacher Collins syndrome: a case and review of the literature
-
Cohen J, Ghezzi F, Gonçalves L, Fuentes JD, Paulyson KJ, Sherer DM (1995) Prenatal sonographic diagnosis of Treacher Collins syndrome: a case and review of the literature. Am J Perinatol 12: 416-419.
-
(1995)
Am J Perinatol
, vol.12
, pp. 416-419
-
-
Cohen, J.1
Ghezzi, F.2
Gonçalves, L.3
Fuentes, J.D.4
Paulyson, K.J.5
Sherer, D.M.6
-
2
-
-
78651238814
-
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
-
Dauwerse JG, Dixon J, Seland S, Ruivenkamp CAL, van Haeringen A, Hoefsloot LH, Peters DJM, Boers AC, Daumer-Haas C, Maiwald R, Zweier Ch, Kerr B, Cobo AM, Toral JF, Hoogeboom AJM, Lohmann DR, Hehr U, Dixon MJ, Breuning MH, Wieczorek D (2011) Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet 43(1): 20-22.
-
(2011)
Nat Genet
, vol.43
, Issue.1
, pp. 20-22
-
-
Dauwerse, J.G.1
Dixon, J.2
Seland, S.3
Ruivenkamp, C.A.L.4
van Haeringen, A.5
Hoefsloot, L.H.6
Peters, D.J.M.7
Boers, A.C.8
Daumer-Haas, C.9
Maiwald, R.10
Zweier, C.11
Kerr, B.12
Cobo, A.M.13
Toral, J.F.14
Hoogeboom, A.J.M.15
Lohmann, D.R.16
Hehr, U.17
Dixon, M.J.18
Breuning, M.H.19
Wieczorek, D.20
more..
-
3
-
-
2542436218
-
Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome
-
Dixon J, Ellis I, Bottani A, Temple K, Dixon MJ (2004) Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome. Am J Med Genet A 127A: 244-248.
-
(2004)
Am J Med Genet A
, vol.127 A
, pp. 244-248
-
-
Dixon, J.1
Ellis, I.2
Bottani, A.3
Temple, K.4
Dixon, M.J.5
-
4
-
-
0036885691
-
Mutation testing in Treacher Collins Syndrome
-
Ellis PE, Dawson M, Dixon MJ (2002) Mutation testing in Treacher Collins Syndrome. J Orthod 29: 293-297.
-
(2002)
J Orthod
, vol.29
, pp. 293-297
-
-
Ellis, P.E.1
Dawson, M.2
Dixon, M.J.3
-
5
-
-
0029794933
-
Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene
-
Gladwin AJ, Dixon J, Loftus SK, Edwards S, Wasmuth JJ, Hennekam RCM, Dixon MJ (1996) Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. Hum Mol Genet 5: 1533-1538.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1533-1538
-
-
Gladwin, A.J.1
Dixon, J.2
Loftus, S.K.3
Edwards, S.4
Wasmuth, J.J.5
Hennekam, R.C.M.6
Dixon, M.J.7
-
6
-
-
0016434225
-
Older paternal age and fresh gene mutation: data on additional disorders
-
Jones KL, Smith DW, Harvey MA, Hall BD, Quan L (1975) Older paternal age and fresh gene mutation: data on additional disorders. J Pediatr 86: 84-88.
-
(1975)
J Pediatr
, vol.86
, pp. 84-88
-
-
Jones, K.L.1
Smith, D.W.2
Harvey, M.A.3
Hall, B.D.4
Quan, L.5
-
7
-
-
0345308368
-
Novel mutation in the 5′ splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome
-
Marszałek B, Wiśniewski SA, Wójcicki P, Kobus K, Trzeciak WH (2003) Novel mutation in the 5′ splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome. Am J Med Genet A 123A: 169-171.
-
(2003)
Am J Med Genet A
, vol.123 A
, pp. 169-171
-
-
Marszałek, B.1
Wiśniewski, S.A.2
Wójcicki, P.3
Kobus, K.4
Trzeciak, W.H.5
-
8
-
-
15444352973
-
Mandibulofacial dysostosis (Treacher-Collins syndrome)
-
Metro PS (1965) Mandibulofacial dysostosis (Treacher-Collins syndrome). Oral Surg Oral Med Oral Pathol 20: 583-590.
-
(1965)
Oral Surg Oral Med Oral Pathol
, vol.20
, pp. 583-590
-
-
Metro, P.S.1
-
9
-
-
1542500570
-
Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons
-
So RB, Gonzales B, Henning D, Dixon J, Dixon MJ, Valdez BC (2004) Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons. Gene 328: 49-57.
-
(2004)
Gene
, vol.328
, pp. 49-57
-
-
So, R.B.1
Gonzales, B.2
Henning, D.3
Dixon, J.4
Dixon, M.J.5
Valdez, B.C.6
-
10
-
-
0033800213
-
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes
-
Splendore A, Silva EO, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushanky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR (2000) High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum Mutat 16: 315-322.
-
(2000)
Hum Mutat
, vol.16
, pp. 315-322
-
-
Splendore, A.1
Silva, E.O.2
Alonso, L.G.3
Richieri-Costa, A.4
Alonso, N.5
Rosa, A.6
Carakushanky, G.7
Cavalcanti, D.P.8
Brunoni, D.9
Passos-Bueno, M.R.10
-
11
-
-
33745598503
-
Treacher Collins syndrome with a de novo 5-bp deletion in the TCOF1 gene
-
Su PH, Chen JY, Chen SJ, Yu JS (2006) Treacher Collins syndrome with a de novo 5-bp deletion in the TCOF1 gene. J Formos Med Assoc 105(6): 518-521.
-
(2006)
J Formos Med Assoc
, vol.105
, Issue.6
, pp. 518-521
-
-
Su, P.H.1
Chen, J.Y.2
Chen, S.J.3
Yu, J.S.4
-
12
-
-
3242671307
-
The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor
-
Valdez BC, Henning D, So RB, Dixon J, Dixon MJ (2004) The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor. Proc Natl Acad Sci USA 101: 10709-10714.
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 10709-10714
-
-
Valdez, B.C.1
Henning, D.2
So, R.B.3
Dixon, J.4
Dixon, M.J.5
-
13
-
-
0030995546
-
TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region
-
Wise CA, Chiang LC, Paznekas WA, Sharma M, Musy MM, Ashley JA, Lovett M, Jabs EW (1997) TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region. Proc Natl Acad Sci USA 94: 3110-3115.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 3110-3115
-
-
Wise, C.A.1
Chiang, L.C.2
Paznekas, W.A.3
Sharma, M.4
Musy, M.M.5
Ashley, J.A.6
Lovett, M.7
Jabs, E.W.8
|