BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

125 related articles for article (PubMed ID: 7634536)

  • 1. 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]  

  • 2. Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease.
    Attié T; Till M; Pelet A; Edery P; Bonnet JP; Munnich A; Lyonnet S
    J Med Genet; 1995 Apr; 32(4):312-3. PubMed ID: 7643365
    [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. A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg Syndrome type 2.
    Wang C; Kim E; Attaie A; Smith TN; Wilcox ER; Lalwani AK
    Mol Cell Probes; 1998 Feb; 12(1):55-7. PubMed ID: 9584079
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I.
    Sotirova VN; Rezaie TM; Khoshsorour MM; Sarfarazi M
    Ophthalmic Genet; 2000 Mar; 21(1):25-8. PubMed ID: 10779847
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. A novel mutation, 1234del(C), of the IRF6 in a Thai family with Van der Woude syndrome.
    Shotelersuk V; Srichomthong C; Yoshiura K; Niikawa N
    Int J Mol Med; 2003 Apr; 11(4):505-7. PubMed ID: 12632105
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. A Novel
    Liang W; Huang W; Sun B; Zhong W; Zhang Y; Zhang J; Zhou Z; Lin J; Chen F
    Genet Test Mol Biomarkers; 2021 Dec; 25(12):749-756. PubMed ID: 34918979
    [No Abstract]   [Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.
    Viñuela A; Morín M; Villamar M; Morera C; Lavilla MJ; Cavallé L; Moreno-Pelayo MA; Moreno F; del Castillo I
    Am J Med Genet A; 2009 Oct; 149A(10):2296-302. PubMed ID: 19764030
    [No Abstract]   [Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?
    Pingault V; Bondurand N; Lemort N; Sancandi M; Ceccherini I; Hugot JP; Jouk PS; Goossens M
    J Med Genet; 2001 Mar; 38(3):205-9. PubMed ID: 11303518
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.