105 related articles for article (PubMed ID: 7601448)
1. Cloning of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene from the Treacher Collins syndrome candidate region at 5q32-q33.1.
Dixon J; Loftus SK; Gladwin AJ; Scambler PJ; Wasmuth JJ; Dixon MJ
Genomics; 1995 Mar; 26(2):239-44. PubMed ID: 7601448
[TBL] [Abstract][Full Text] [Related]
2. Transcriptional map of the Treacher Collins candidate gene region.
Loftus SK; Dixon J; Koprivnikar K; Dixon MJ; Wasmuth JJ
Genome Res; 1996 Jan; 6(1):26-34. PubMed ID: 8681136
[TBL] [Abstract][Full Text] [Related]
3. Genomic organization of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene: exclusion from a causative role in the pathogenesis of Treacher Collins syndrome.
Gladwin AJ; Dixon J; Loftus SK; Wasmuth JJ; Dixon MJ
Genomics; 1996 Mar; 32(3):471-3. PubMed ID: 8838814
[TBL] [Abstract][Full Text] [Related]
4. A YAC contig encompassing the Treacher Collins syndrome critical region at 5q31.3-32.
Dixon J; Gladwin AJ; Loftus SK; Riley JH; Perveen R; Wasmuth JJ; Anand R; Dixon MJ
Am J Hum Genet; 1994 Aug; 55(2):372-8. PubMed ID: 8037214
[TBL] [Abstract][Full Text] [Related]
5. Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1.
Dixon MJ; Dixon J; Houseal T; Bhatt M; Ward DC; Klinger K; Landes GM
Am J Hum Genet; 1993 May; 52(5):907-14. PubMed ID: 8488840
[TBL] [Abstract][Full Text] [Related]
6. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group.
Nat Genet; 1996 Feb; 12(2):130-6. PubMed ID: 8563749
[TBL] [Abstract][Full Text] [Related]
7. Treacher Collins syndrome.
Dixon MJ
Hum Mol Genet; 1996; 5 Spec No():1391-6. PubMed ID: 8875242
[TBL] [Abstract][Full Text] [Related]
8. Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2.
Dixon MJ; Dixon J; Raskova D; Le Beau MM; Williamson R; Klinger K; Landes GM
Hum Mol Genet; 1992 Jul; 1(4):249-53. PubMed ID: 1303194
[TBL] [Abstract][Full Text] [Related]
9. A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q.
Loftus SK; Edwards SJ; Scherpbier-Heddema T; Buetow KH; Wasmuth JJ; Dixon MJ
Hum Mol Genet; 1993 Nov; 2(11):1785-92. PubMed ID: 8281138
[TBL] [Abstract][Full Text] [Related]
10. Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3.
Jabs EW; Li X; Coss CA; Taylor EW; Meyers DA; Weber JL
Genomics; 1991 Sep; 11(1):193-8. PubMed ID: 1765376
[TBL] [Abstract][Full Text] [Related]
11. The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.
Dixon MJ; Read AP; Donnai D; Colley A; Dixon J; Williamson R
Am J Hum Genet; 1991 Jul; 49(1):17-22. PubMed ID: 1676560
[TBL] [Abstract][Full Text] [Related]
12. Treacher Collins syndrome: correlation between clinical and genetic linkage studies.
Dixon MJ; Marres HA; Edwards SJ; Dixon J; Cremers CW
Clin Dysmorphol; 1994 Apr; 3(2):96-103. PubMed ID: 8055143
[TBL] [Abstract][Full Text] [Related]
13. Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene.
Dixon J; Edwards SJ; Anderson I; Brass A; Scambler PJ; Dixon MJ
Genome Res; 1997 Mar; 7(3):223-34. PubMed ID: 9074926
[TBL] [Abstract][Full Text] [Related]
14. Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region.
Jabs EW; Li X; Lovett M; Yamaoka LH; Taylor E; Speer MC; Coss C; Cadle R; Hall B; Brown K
Genomics; 1993 Oct; 18(1):7-13. PubMed ID: 8276417
[TBL] [Abstract][Full Text] [Related]
15. Clinical features, treatment and genetic background of Treacher Collins syndrome.
Marszałek B; Wójcicki P; Kobus K; Trzeciak WH
J Appl Genet; 2002; 43(2):223-33. PubMed ID: 12080178
[TBL] [Abstract][Full Text] [Related]
16. Multiple isozymes of heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase. Structure and activity of the fourth member, NDST4.
Aikawa J; Grobe K; Tsujimoto M; Esko JD
J Biol Chem; 2001 Feb; 276(8):5876-82. PubMed ID: 11087757
[TBL] [Abstract][Full Text] [Related]
17. 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 RC; Dixon MJ
Hum Mol Genet; 1996 Oct; 5(10):1533-8. PubMed ID: 8894686
[TBL] [Abstract][Full Text] [Related]
18. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.
Edwards SJ; Gladwin AJ; Dixon MJ
Am J Hum Genet; 1997 Mar; 60(3):515-24. PubMed ID: 9042910
[TBL] [Abstract][Full Text] [Related]
19. Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome.
Crawford MJ; Lanctôt C; Tremblay JJ; Jenkins N; Gilbert D; Copeland N; Beatty B; Drouin J
Mamm Genome; 1997; 8(11):841-5. PubMed ID: 9337397
[TBL] [Abstract][Full Text] [Related]
20. 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.
Jabs EW; Coss CA; Hayflick SJ; Whitmore TE; Pauli RM; Kirkpatrick SJ; Meyers DA; Goldberg R; Day DW; Rosenbaum KN
Genomics; 1991 Sep; 11(1):188-92. PubMed ID: 1684950
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
