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2. A family with unusual Waardenburg syndrome type I (WSI), cleft lip (palate), and Hirschsprung disease is not linked to PAX 3. Pierpont JW; St Jacques D; Seaver LH; Erickson RP Clin Genet; 1995 Mar; 47(3):139-43. PubMed ID: 7634536 [TBL] [Abstract][Full Text] [Related]
3. Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q. Van Camp G; Van Thienen MN; Handig I; Van Roy B; Rao VS; Milunsky A; Read AP; Baldwin CT; Farrer LA; Bonduelle M J Med Genet; 1995 Jul; 32(7):531-6. PubMed ID: 7562965 [TBL] [Abstract][Full Text] [Related]
4. Second locus for Hirschsprung disease/Waardenburg syndrome in a large Mennonite kindred. Dow E; Cross S; Wolgemuth DJ; Lyonnet S; Mulligan LM; Mascari M; Ladda R; Williamson R Am J Med Genet; 1994 Oct; 53(1):75-80. PubMed ID: 7802041 [TBL] [Abstract][Full Text] [Related]
5. Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret. Lang D; Chen F; Milewski R; Li J; Lu MM; Epstein JA J Clin Invest; 2000 Oct; 106(8):963-71. PubMed ID: 11032856 [TBL] [Abstract][Full Text] [Related]
6. Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome? Tekin M; Bodurtha JN; Nance WE; Pandya A Clin Genet; 2001 Oct; 60(4):301-4. PubMed ID: 11683776 [TBL] [Abstract][Full Text] [Related]
7. Analysis of locus heterogeneity in Waardenburg syndrome types 1 and 2 using highly informative microsatellite markers. Reynolds JE; Arnos KS; Landa B; Stevens CA; Salbert BA; Wright L; Duke B; Hunt W; Marazita ML; Ploughman L Hum Hered; 1995; 45(5):243-52. PubMed ID: 7590754 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. Waardenburg-Hirschsprung disease in two sisters: a possible clue to the genetics of this association? Bonnet JP; Till M; Edery P; Attie T; Lyonnet S Eur J Pediatr Surg; 1996 Aug; 6(4):245-8. PubMed ID: 8877363 [TBL] [Abstract][Full Text] [Related]
10. Waardenburg's syndrome with Hirschsprung's disease: a neural crest defect. Mallory SB; Wiener E; Nordlund JJ Pediatr Dermatol; 1986 Feb; 3(2):119-24. PubMed ID: 3952027 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1). Morell R; Friedman TB; Asher JH; Robbins LG J Med Genet; 1997 Jun; 34(6):447-52. PubMed ID: 9192262 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Homozygosity for Waardenburg syndrome. Zlotogora J; Lerer I; Bar-David S; Ergaz Z; Abeliovich D Am J Hum Genet; 1995 May; 56(5):1173-8. PubMed ID: 7726174 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family. Morell R; Friedman TB; Asher JH Hum Mol Genet; 1993 Sep; 2(9):1487-8. PubMed ID: 7902163 [No Abstract] [Full Text] [Related]
19. Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7. Carey ML; Friedman TB; Asher JH; Innis JW J Med Genet; 1998 Mar; 35(3):248-50. PubMed ID: 9541113 [TBL] [Abstract][Full Text] [Related]
20. Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. Wollnik B; Tukel T; Uyguner O; Ghanbari A; Kayserili H; Emiroglu M; Yuksel-Apak M Am J Med Genet A; 2003 Sep; 122A(1):42-5. PubMed ID: 12949970 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]