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Journal Abstract Search

196 related items for PubMed ID: 15491445

  • 1.
    ; . PubMed ID:
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  • 2. EEC syndrome: report on 20 new patients, clinical and genetic considerations.
    Rodini ES, Richieri-Costa A.
    Am J Med Genet; 1990 Sep; 37(1):42-53. PubMed ID: 2240042
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  • 4. P63 gene mutations and human developmental syndromes.
    Brunner HG, Hamel BC, Bokhoven Hv Hv.
    Am J Med Genet; 2002 Oct 15; 112(3):284-90. PubMed ID: 12357472
    [Abstract] [Full Text] [Related]

  • 5. Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: report of a Brazilian family.
    Richieri-Costa A, Guion-Almeida ML, Freire-Maia N, Pinheiro M.
    Am J Med Genet; 1992 Sep 15; 44(2):158-62. PubMed ID: 1456284
    [Abstract] [Full Text] [Related]

  • 6. De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome.
    Shotelersuk V, Janklat S, Siriwan P, Tongkobpetch S.
    Clin Exp Dermatol; 2005 May 15; 30(3):282-5. PubMed ID: 15807690
    [Abstract] [Full Text] [Related]

  • 7. ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene.
    Chan I, Harper JI, Mellerio JE, McGrath JA.
    Clin Exp Dermatol; 2004 Nov 15; 29(6):669-72. PubMed ID: 15550149
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  • 9. Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child.
    Moerman P, Fryns JP.
    Am J Med Genet; 1996 Jun 14; 63(3):479-81. PubMed ID: 8737656
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  • 10. Common mutations in Arg304 of the p63 gene in ectrodactyly, ectodermal dysplasia, clefting syndrome: lack of genotype-phenotype correlation and implications for mutation detection strategies.
    Hamada T, Chan I, Willoughby CE, Goudie DR, McGrath JA.
    J Invest Dermatol; 2002 Nov 14; 119(5):1202-3. PubMed ID: 12445213
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  • 11. Ectrodactyly-ectodermal dysplasia-clefting syndrome associated with p63 mutation and an uncommon phenotype.
    Paranaíba LM, Martelli-Júnior H, de Miranda RT, Bufalino A, Abdo Filho RC, Coletta RD.
    Cleft Palate Craniofac J; 2010 Sep 14; 47(5):544-7. PubMed ID: 20180707
    [Abstract] [Full Text] [Related]

  • 12. A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.
    Rinne T, Clements SE, Lamme E, Duijf PH, Bolat E, Meijer R, Scheffer H, Rosser E, Tan TY, McGrath JA, Schalkwijk J, Brunner HG, Zhou H, van Bokhoven H.
    Hum Mol Genet; 2008 Jul 01; 17(13):1968-77. PubMed ID: 18364388
    [Abstract] [Full Text] [Related]

  • 13. A 19-year follow-up of a patient with type 3 ectrodactyly-ectodermal dysplasia-clefting syndrome who developed non-Hodgkin lymphoma.
    Balci S, Engiz O, Okten G, Sipahier M, Gursu G, Kandemir B.
    Oral Surg Oral Med Oral Pathol Oral Radiol Endod; 2009 Sep 01; 108(3):e91-5. PubMed ID: 19716498
    [Abstract] [Full Text] [Related]

  • 14. Rapp-Hodgkin syndrome and the tail of p63.
    Chan I, McGrath JA, Kivirikko S.
    Clin Exp Dermatol; 2005 Mar 01; 30(2):183-6. PubMed ID: 15725251
    [Abstract] [Full Text] [Related]

  • 15. R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy.
    Valenzise M, Arrigo T, De Luca F, Privitera A, Frigiola A, Carando A, Garelli E, Silengo M.
    Eur J Med Genet; 2008 Mar 01; 51(5):497-500. PubMed ID: 18603493
    [Abstract] [Full Text] [Related]

  • 16. Association of ectrodactyly and distal phocomelia.
    Delrue MA, Lacombe D.
    Genet Couns; 2002 Mar 01; 13(3):319-25. PubMed ID: 12416640
    [Abstract] [Full Text] [Related]

  • 17. 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 01; 22(1):1-5. PubMed ID: 14656652
    [Abstract] [Full Text] [Related]

  • 18. The p63 gene in EEC and other syndromes.
    Brunner HG, Hamel BC, Van Bokhoven H.
    J Med Genet; 2002 Jun 01; 39(6):377-81. PubMed ID: 12070241
    [Abstract] [Full Text] [Related]

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  • 20. EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis.
    South AP, Ashton GH, Willoughby C, Ellis IH, Bleck O, Hamada T, Mannion G, Wessagowit V, Hashimoto T, Eady RA, McGrath JA.
    Br J Dermatol; 2002 Feb 01; 146(2):216-20. PubMed ID: 11903230
    [Abstract] [Full Text] [Related]

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