BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

345 related articles for article (PubMed ID: 10839977)

  • 1. Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.
    Ianakiev P; Kilpatrick MW; Toudjarska I; Basel D; Beighton P; Tsipouras P
    Am J Hum Genet; 2000 Jul; 67(1):59-66. PubMed ID: 10839977
    [TBL] [Abstract][Full Text] [Related]  

  • 2. p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
    van Bokhoven H; Hamel BC; Bamshad M; Sangiorgi E; Gurrieri F; Duijf PH; Vanmolkot KR; van Beusekom E; van Beersum SE; Celli J; Merkx GF; Tenconi R; Fryns JP; Verloes A; Newbury-Ecob RA; Raas-Rotschild A; Majewski F; Beemer FA; Janecke A; Chitayat D; Crisponi G; Kayserili H; Yates JR; Neri G; Brunner HG
    Am J Hum Genet; 2001 Sep; 69(3):481-92. PubMed ID: 11462173
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.
    Celli J; Duijf P; Hamel BC; Bamshad M; Kramer B; Smits AP; Newbury-Ecob R; Hennekam RC; Van Buggenhout G; van Haeringen A; Woods CG; van Essen AJ; de Waal R; Vriend G; Haber DA; Yang A; McKeon F; Brunner HG; van Bokhoven H
    Cell; 1999 Oct; 99(2):143-53. PubMed ID: 10535733
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects.
    Lo Iacono N; Mantero S; Chiarelli A; Garcia E; Mills AA; Morasso MI; Costanzo A; Levi G; Guerrini L; Merlo GR
    Development; 2008 Apr; 135(7):1377-88. PubMed ID: 18326838
    [TBL] [Abstract][Full Text] [Related]  

  • 5. p63 gene analysis in Mexican patients with syndromic and non-syndromic ectrodactyly.
    Berdón-Zapata V; Granillo-Alvarez M; Valdés-Flores M; García-Ortiz JE; Kofman-Alfaro S; Zenteno JC
    J Orthop Res; 2004 Jan; 22(1):1-5. PubMed ID: 14656652
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel mutation of p63 in a Chinese family with inherited syndactyly and adactylism.
    Luo T; Yu W; Yuan Z; Deng Y; Zhao Y; Yuan W; Xiao J; Wang Y; Luo N; Mo X; Li Y; Liu M; Wu X
    Mutat Res; 2008 Jan; 637(1-2):182-9. PubMed ID: 17915261
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Split-hand/split-foot malformation with paternal mutation in the p63 gene.
    Witters I; Van Bokhoven H; Goossens A; Van Assche FA; Fryns JP
    Prenat Diagn; 2001 Dec; 21(13):1119-22. PubMed ID: 11787035
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Pathogenesis of split-hand/split-foot malformation.
    Duijf PH; van Bokhoven H; Brunner HG
    Hum Mol Genet; 2003 Apr; 12 Spec No 1():R51-60. PubMed ID: 12668597
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients.
    Elliott AM; Evans JA
    Am J Med Genet A; 2006 Jul; 140(13):1419-27. PubMed ID: 16688749
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts.
    Barrow LL; van Bokhoven H; Daack-Hirsch S; Andersen T; van Beersum SE; Gorlin R; Murray JC
    J Med Genet; 2002 Aug; 39(8):559-66. PubMed ID: 12161593
    [TBL] [Abstract][Full Text] [Related]  

  • 11. P63 mutations are not a major cause of non-syndromic split hand/foot malformation.
    de Mollerat XJ; Everman DB; Morgan CT; Clarkson KB; Rogers RC; Colby RS; Aylsworth AS; Graham JM; Stevenson RE; Schwartz CE
    J Med Genet; 2003 Jan; 40(1):55-61. PubMed ID: 12525544
    [No Abstract]   [Full Text] [Related]  

  • 12. The p63 gene in EEC and other syndromes.
    Brunner HG; Hamel BC; Van Bokhoven H
    J Med Genet; 2002 Jun; 39(6):377-81. PubMed ID: 12070241
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.
    McGrath JA; Duijf PH; Doetsch V; Irvine AD; de Waal R; Vanmolkot KR; Wessagowit V; Kelly A; Atherton DJ; Griffiths WA; Orlow SJ; van Haeringen A; Ausems MG; Yang A; McKeon F; Bamshad MA; Brunner HG; Hamel BC; van Bokhoven H
    Hum Mol Genet; 2001 Feb; 10(3):221-9. PubMed ID: 11159940
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Abnormal urethra formation in mouse models of split-hand/split-foot malformation type 1 and type 4.
    Suzuki K; Haraguchi R; Ogata T; Barbieri O; Alegria O; Vieux-Rochas M; Nakagata N; Ito M; Mills AA; Kurita T; Levi G; Yamada G
    Eur J Hum Genet; 2008 Jan; 16(1):36-44. PubMed ID: 17878916
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular genetic characterization of a Korean split hand/split foot malformation (SHFM).
    Kang YS; Cheong HM; Moon Y; Lee IB; Kim SM; Kim HS; Jun SY; Jung SK; Kim JS; Choi JH; Cho HE; Son JS; Min NY; Lee KH
    Mol Cells; 2004 Jun; 17(3):397-403. PubMed ID: 15232212
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63.
    Duijf PH; Vanmolkot KR; Propping P; Friedl W; Krieger E; McKeon F; Dötsch V; Brunner HG; van Bokhoven H
    Hum Mol Genet; 2002 Apr; 11(7):799-804. PubMed ID: 11929852
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families.
    Aziz A; Irfanullah ; Khan S; Zimri FK; Muhammad N; Rashid S; Ahmad W
    Gene; 2014 Jan; 534(2):265-71. PubMed ID: 24211389
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation.
    Ugur SA; Tolun A
    Hum Mol Genet; 2008 Sep; 17(17):2644-53. PubMed ID: 18515319
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation.
    Khan S; Basit S; Zimri FK; Ali N; Ali G; Ansar M; Ahmad W
    Clin Genet; 2012 Jul; 82(1):48-55. PubMed ID: 21554266
    [TBL] [Abstract][Full Text] [Related]  

  • 20. DLX5, FGF8 and the Pin1 isomerase control ΔNp63α protein stability during limb development: a regulatory loop at the basis of the SHFM and EEC congenital malformations.
    Restelli M; Lopardo T; Lo Iacono N; Garaffo G; Conte D; Rustighi A; Napoli M; Del Sal G; Perez-Morga D; Costanzo A; Merlo GR; Guerrini L
    Hum Mol Genet; 2014 Jul; 23(14):3830-42. PubMed ID: 24569166
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.