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Journal Abstract Search

197 related items for PubMed ID: 2877938

  • 21. Anhidrotic ectodermal dysplasia gene region cloned in yeast artificial chromosomes.
    Kere J, Grzeschik KH, Limon J, Gremaud M, Schlessinger D, de la Chapelle A.
    Genomics; 1993 May; 16(2):305-10. PubMed ID: 8314567
    [Abstract] [Full Text] [Related]

  • 22. Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia.
    Kobielak K, Kobielak A, Roszkiewicz J, Wierzba J, Limon J, Trzeciak WH.
    Am J Med Genet; 2001 May 01; 100(3):191-7. PubMed ID: 11343303
    [Abstract] [Full Text] [Related]

  • 23. Anhidrotic ectodermal dysplasia (EDA) protein expressed in MCF-7 cells associates with cell membrane and induces rounding.
    Ezer S, Schlessinger D, Srivastava A, Kere J.
    Hum Mol Genet; 1997 Sep 01; 6(9):1581-7. PubMed ID: 9285797
    [Abstract] [Full Text] [Related]

  • 24. A genetic study of anodontia in X-linked hypohidrotic ectodermal dysplasia.
    Nakata M, Koshiba H, Eto K, Nance WE.
    Am J Hum Genet; 1980 Nov 01; 32(6):908-19. PubMed ID: 7446529
    [Abstract] [Full Text] [Related]

  • 25. Fatal outcome in a female monozygotic twin with X-linked hypohydrotic ectodermal dysplasia (XLHED) due to a de novo t(X;9) translocation with probable disruption of the EDA gene.
    Zankl A, Addor MC, Cousin P, Gaide AC, Gudinchet F, Schorderet DF.
    Eur J Pediatr; 2001 May 01; 160(5):296-9. PubMed ID: 11388598
    [Abstract] [Full Text] [Related]

  • 26. X-mapping in man: evidence against measurable linkage between anhidrotic ectodermal dysplasia and G6PD deficiency.
    Filippi G, Rinaldi A, Crisponi G, Daniels GL, Siniscalco M.
    J Med Genet; 1979 Jun 01; 16(3):223-4. PubMed ID: 469901
    [Abstract] [Full Text] [Related]

  • 27. Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications.
    Ferguson BM, Thomas NS, Munoz F, Morgan D, Clarke A, Zonana J.
    J Med Genet; 1998 Feb 01; 35(2):112-5. PubMed ID: 9507389
    [Abstract] [Full Text] [Related]

  • 28. Clinical and radiographic dental findings in X linked hypohidrotic ectodermal dysplasia.
    Crawford PJ, Aldred MJ, Clarke A.
    J Med Genet; 1991 Mar 01; 28(3):181-5. PubMed ID: 2051453
    [Abstract] [Full Text] [Related]

  • 29. Hypohidrotic (anhidrotic) ectodermal dysplasia: molecular genetic research and its clinical applications.
    Zonana J.
    Semin Dermatol; 1993 Sep 01; 12(3):241-6. PubMed ID: 8217562
    [Abstract] [Full Text] [Related]

  • 30. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.
    Kere J, Srivastava AK, Montonen O, Zonana J, Thomas N, Ferguson B, Munoz F, Morgan D, Clarke A, Baybayan P, Chen EY, Ezer S, Saarialho-Kere U, de la Chapelle A, Schlessinger D.
    Nat Genet; 1996 Aug 01; 13(4):409-16. PubMed ID: 8696334
    [Abstract] [Full Text] [Related]

  • 31. Mutation in the regulatory region of the EDA gene coincides with the symptoms of anhidrotic ectodermal dysplasia.
    Kobielak K, Kobielak A, Limon J, Trzeciak WH.
    Acta Biochim Pol; 1998 Aug 01; 45(1):245-50. PubMed ID: 9701517
    [Abstract] [Full Text] [Related]

  • 32. Linkage analysis with RFLPs in families with androgen resistance syndromes: evidence for close linkage between the androgen receptor locus and the DXS1 segment.
    Wieacker P, Griffin JE, Wienker T, Lopez JM, Wilson JD, Breckwoldt M.
    Hum Genet; 1987 Jul 01; 76(3):248-52. PubMed ID: 2885254
    [Abstract] [Full Text] [Related]

  • 33. Linkage analysis using multiple Xq DNA polymorphisms in normal families, families with the fragile X syndrome, and other families with X linked conditions.
    Connor JM, Pirrit LA, Yates JR, Crossley JA, Imrie SJ, Colgan JM.
    J Med Genet; 1987 Jan 01; 24(1):14-22. PubMed ID: 2879932
    [Abstract] [Full Text] [Related]

  • 34. A strategy to reveal high-frequency RFLPs along the human X chromosome.
    Aldridge J, Kunkel L, Bruns G, Tantravahi U, Lalande M, Brewster T, Moreau E, Wilson M, Bromley W, Roderick T.
    Am J Hum Genet; 1984 May 01; 36(3):546-64. PubMed ID: 6328976
    [Abstract] [Full Text] [Related]

  • 35. Hypodontia and sweat pore counts in detecting carriers of X-linked hypohidrotic ectodermal dysplasia.
    Sofaer JA.
    Br Dent J; 1981 Nov 17; 151(10):327-30. PubMed ID: 6946797
    [No Abstract] [Full Text] [Related]

  • 36. Close linkage of random DNA fragments from Xq 21.3-22 to X-linked agammaglobulinaemia (XLA).
    Malcolm S, de Saint Basile G, Arveiler B, Lau YL, Szabo P, Fischer A, Griscelli C, Debre M, Mandel JL, Callard RE.
    Hum Genet; 1987 Oct 17; 77(2):172-4. PubMed ID: 2888720
    [Abstract] [Full Text] [Related]

  • 37. X-linked anhidrotic ectodermal dysplasia with some unusual features.
    Settineri WM, Salzano FM, Fretas MJ.
    J Med Genet; 1976 Jun 17; 13(3):212-6. PubMed ID: 933122
    [Abstract] [Full Text] [Related]

  • 38. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
    Döffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, Bodemer C, Kenwrick S, Dupuis-Girod S, Blanche S, Wood P, Rabia SH, Headon DJ, Overbeek PA, Le Deist F, Holland SM, Belani K, Kumararatne DS, Fischer A, Shapiro R, Conley ME, Reimund E, Kalhoff H, Abinun M, Munnich A, Israël A, Courtois G, Casanova JL.
    Nat Genet; 2001 Mar 17; 27(3):277-85. PubMed ID: 11242109
    [Abstract] [Full Text] [Related]

  • 39. Linkage analysis of polymorphisms within the DNA fragment XJ cloned from the breakpoint of an X;21 translocation associated with X linked muscular dystrophy.
    Thompson MW, Ray PN, Belfall B, Duff C, Logan C, Oss I, Worton RG.
    J Med Genet; 1986 Dec 17; 23(6):548-55. PubMed ID: 2879926
    [Abstract] [Full Text] [Related]

  • 40. A family with X-linked deafness showing linkage to the proximal Xq region of the X chromosome.
    Robinson D, Lamont M, Curtis G, Shields DC, Phelps P.
    Hum Genet; 1992 Nov 17; 90(3):316-8. PubMed ID: 1362559
    [Abstract] [Full Text] [Related]

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