These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
376 related articles for article (PubMed ID: 1347148)
1. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Tassabehji M; Read AP; Newton VE; Harris R; Balling R; Gruss P; Strachan T Nature; 1992 Feb; 355(6361):635-6. PubMed ID: 1347148 [TBL] [Abstract][Full Text] [Related]
2. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Baldwin CT; Hoth CF; Amos JA; da-Silva EO; Milunsky A Nature; 1992 Feb; 355(6361):637-8. PubMed ID: 1347149 [TBL] [Abstract][Full Text] [Related]
3. PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse. Tassabehji M; Newton VE; Leverton K; Turnbull K; Seemanova E; Kunze J; Sperling K; Strachan T; Read AP Hum Mol Genet; 1994 Jul; 3(7):1069-74. PubMed ID: 7981674 [TBL] [Abstract][Full Text] [Related]
4. Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. Tassabehji M; Read AP; Newton VE; Patton M; Gruss P; Harris R; Strachan T Nat Genet; 1993 Jan; 3(1):26-30. PubMed ID: 8490648 [TBL] [Abstract][Full Text] [Related]
5. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). Hoth CF; Milunsky A; Lipsky N; Sheffer R; Clarren SK; Baldwin CT Am J Hum Genet; 1993 Mar; 52(3):455-62. PubMed ID: 8447316 [TBL] [Abstract][Full Text] [Related]
6. Mutations in PAX3 associated with Waardenburg syndrome type I. Baldwin CT; Lipsky NR; Hoth CF; Cohen T; Mamuya W; Milunsky A Hum Mutat; 1994; 3(3):205-11. PubMed ID: 8019556 [TBL] [Abstract][Full Text] [Related]
7. Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. Baldwin CT; Hoth CF; Macina RA; Milunsky A Am J Med Genet; 1995 Aug; 58(2):115-22. PubMed ID: 8533800 [TBL] [Abstract][Full Text] [Related]
8. Molecular basis of splotch and Waardenburg Pax-3 mutations. Chalepakis G; Goulding M; Read A; Strachan T; Gruss P Proc Natl Acad Sci U S A; 1994 Apr; 91(9):3685-9. PubMed ID: 7909605 [TBL] [Abstract][Full Text] [Related]
9. Two different PAX3 gene mutations causing Waardenburg syndrome type I. Wildhardt G; Winterpacht A; Hilbert K; Menger H; Zabel B Mol Cell Probes; 1996 Jun; 10(3):229-31. PubMed ID: 8799378 [TBL] [Abstract][Full Text] [Related]
10. Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families. Lalwani AK; Brister JR; Fex J; Grundfast KM; Ploplis B; San Agustin TB; Wilcox ER Am J Hum Genet; 1995 Jan; 56(1):75-83. PubMed ID: 7825605 [TBL] [Abstract][Full Text] [Related]
11. A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1). Attaie A; Kim E; Wilcox ER; Lalwani AK Mol Cell Probes; 1997 Jun; 11(3):233-6. PubMed ID: 9232624 [TBL] [Abstract][Full Text] [Related]
12. Reciprocal effect of Waardenburg syndrome mutations on DNA binding by the Pax-3 paired domain and homeodomain. Fortin AS; Underhill DA; Gros P Hum Mol Genet; 1997 Oct; 6(11):1781-90. PubMed ID: 9302254 [TBL] [Abstract][Full Text] [Related]
13. Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects. Shim SH; Wyandt HE; McDonald-McGinn DM; Zackai EZ; Milunsky A Clin Genet; 2004 Jul; 66(1):46-52. PubMed ID: 15200507 [TBL] [Abstract][Full Text] [Related]
14. Splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. Epstein DJ; Vekemans M; Gros P Cell; 1991 Nov; 67(4):767-74. PubMed ID: 1682057 [TBL] [Abstract][Full Text] [Related]
15. The mutational spectrum in Waardenburg syndrome. Tassabehji M; Newton VE; Liu XZ; Brady A; Donnai D; Krajewska-Walasek M; Murday V; Norman A; Obersztyn E; Reardon W Hum Mol Genet; 1995 Nov; 4(11):2131-7. PubMed ID: 8589691 [TBL] [Abstract][Full Text] [Related]
16. Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9. Stapleton P; Weith A; Urbánek P; Kozmik Z; Busslinger M Nat Genet; 1993 Apr; 3(4):292-8. PubMed ID: 7981748 [TBL] [Abstract][Full Text] [Related]
17. Three cases of Waardenburg syndrome type 2 in a Korean family. Choi JH; Moon SK; Lee KH; Lew HM; Chang YH Korean J Ophthalmol; 2004 Dec; 18(2):185-9. PubMed ID: 15635834 [TBL] [Abstract][Full Text] [Related]
18. A splice junction mutation in PAX3 causes Waardenburg syndrome in a South African family. Butt J; Greenberg J; Winship I; Sellars S; Beighton P; Ramesar R Hum Mol Genet; 1994 Jan; 3(1):197-8. PubMed ID: 8162027 [No Abstract] [Full Text] [Related]
19. Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1. Soejima H; Fujimoto M; Tsukamoto K; Matsumoto N; Yoshiura KI; Fukushima Y; Jinno Y; Niikawa N Hum Mutat; 1997; 9(2):177-80. PubMed ID: 9067759 [No Abstract] [Full Text] [Related]
20. A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome. Hol FA; Hamel BC; Geurds MP; Mullaart RA; Barr FG; Macina RA; Mariman EC J Med Genet; 1995 Jan; 32(1):52-6. PubMed ID: 7897628 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]