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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

234 related articles for article (PubMed ID: 7981674)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: a murine model of Waardenburg syndrome variation.
    Asher JH; Harrison RW; Morell R; Carey ML; Friedman TB
    Genomics; 1996 Jun; 34(3):285-98. PubMed ID: 8786127
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. A transgenic neuroanatomical marker identifies cranial neural crest deficiencies associated with the Pax3 mutant Splotch.
    Tremblay P; Kessel M; Gruss P
    Dev Biol; 1995 Oct; 171(2):317-29. PubMed ID: 7556916
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Pax3 inhibits myogenic differentiation of cultured myoblast cells.
    Epstein JA; Lam P; Jepeal L; Maas RL; Shapiro DN
    J Biol Chem; 1995 May; 270(20):11719-22. PubMed ID: 7744814
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?
    Pandya A; Xia XJ; Landa BL; Arnos KS; Israel J; Lloyd J; James AL; Diehl SR; Blanton SH; Nance WE
    Hum Mol Genet; 1996 Apr; 5(4):497-502. PubMed ID: 8845842
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.