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Journal Abstract Search

140 related items for PubMed ID: 3243543

  • 1. X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34.
    Wallis C, Ballo R, Wallis G, Beighton P, Goldblatt J.
    Genomics; 1988 Nov; 3(4):299-301. PubMed ID: 3243543
    [Abstract] [Full Text] [Related]

  • 2. The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK.
    Brunner HG, van Bennekom A, Lambermon EM, Oei TL, Cremers WR, Wieringa B, Ropers HH.
    Hum Genet; 1988 Dec; 80(4):337-40. PubMed ID: 2904400
    [Abstract] [Full Text] [Related]

  • 3. A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity.
    Reardon W, Middleton-Price HR, Sandkuijl L, Phelps P, Bellman S, Luxon L, Pembrey ME, Malcolm S.
    Genomics; 1991 Dec; 11(4):885-94. PubMed ID: 1783396
    [Abstract] [Full Text] [Related]

  • 4. 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; 90(3):316-8. PubMed ID: 1362559
    [Abstract] [Full Text] [Related]

  • 5. X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.
    Gal A, Mücke J, Theile H, Wieacker PF, Ropers HH, Wienker TF.
    Hum Genet; 1985 Nov; 70(1):38-42. PubMed ID: 2987105
    [Abstract] [Full Text] [Related]

  • 6. Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21.
    Nussbaum RL, Lewis RA, Lesko JG, Ferrell R.
    Am J Hum Genet; 1985 May; 37(3):473-81. PubMed ID: 2988333
    [Abstract] [Full Text] [Related]

  • 7. X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher.
    Nance WE, Setleff R, McLeod A, Sweeney A, Cooper C, McConnell F.
    Birth Defects Orig Artic Ser; 1971 Mar; 07(4):64-9. PubMed ID: 5173351
    [Abstract] [Full Text] [Related]

  • 8. X-linked deafness, stapes gushers and a distinctive defect of the inner ear.
    Phelps PD, Reardon W, Pembrey M, Bellman S, Luxom L.
    Neuroradiology; 1991 Mar; 33(4):326-30. PubMed ID: 1922747
    [Abstract] [Full Text] [Related]

  • 9. X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery.
    Cremers CW, Hombergen GC, Scaf JJ, Huygen PL, Volkers WS, Pinckers AJ.
    Arch Otolaryngol; 1985 Apr; 111(4):249-54. PubMed ID: 3977755
    [Abstract] [Full Text] [Related]

  • 10. Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21.
    Merry DE, Lesko JG, Sosnoski DM, Lewis RA, Lubinsky M, Trask B, van den Engh G, Collins FS, Nussbaum RL.
    Am J Hum Genet; 1989 Oct; 45(4):530-40. PubMed ID: 2491012
    [Abstract] [Full Text] [Related]

  • 11. Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families.
    Bitner-Glindzicz M, de Kok Y, Summers D, Huber I, Cremers FP, Ropers HH, Reardon W, Pembrey ME, Malcolm S.
    J Med Genet; 1994 Dec; 31(12):916-21. PubMed ID: 7891371
    [Abstract] [Full Text] [Related]

  • 12. Mapping X-linked ophthalmic diseases. Provisional assignment of the locus for choroideremia to Xq13-q24.
    Lewis RA, Nussbaum RL, Ferrell R.
    Ophthalmology; 1985 Jun; 92(6):800-6. PubMed ID: 4034175
    [Abstract] [Full Text] [Related]

  • 13. Phenotypic evidence for a common pathogenesis in X-linked deafness pedigrees and in Xq13-q21 deletion related deafness.
    Reardon W, Roberts S, Phelps PD, Thomas NS, Beck L, Issac R, Hughes HE.
    Am J Med Genet; 1992 Nov 01; 44(4):513-7. PubMed ID: 1442898
    [Abstract] [Full Text] [Related]

  • 14. Clinical features of female heterozygotes in the X-linked mixed deafness syndrome (with perilymphatic gusher during stapes surgery).
    Cremers CW, Huygen PL.
    Int J Pediatr Otorhinolaryngol; 1983 Nov 01; 6(2):179-85. PubMed ID: 6662621
    [Abstract] [Full Text] [Related]

  • 15. Gene localisation of X-linked hypohidrotic ectodermal dysplasia (C-S-T syndrome).
    MacDermot KD, Winter RM, Malcolm S.
    Hum Genet; 1986 Oct 01; 74(2):172-3. PubMed ID: 3464559
    [Abstract] [Full Text] [Related]

  • 16. X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13.
    Raskind WH, Wijsman E, Pagon RA, Cox TC, Bawden MJ, May BK, Bird TD.
    Am J Hum Genet; 1991 Feb 01; 48(2):335-41. PubMed ID: 1671320
    [Abstract] [Full Text] [Related]

  • 17. The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DXYS1.
    Gorski SM, Adams KJ, Birch PH, Friedman JM, Goodfellow PJ.
    Am J Hum Genet; 1992 May 01; 50(5):1129-36. PubMed ID: 1570839
    [Abstract] [Full Text] [Related]

  • 18. X-linked mixed deafness syndrome with congenital fixation of the stapedial footplate and perilymphatic gusher (DFN3).
    Cremers CW, Snik AF, Huygen PL, Joosten FB, Cremers FP.
    Adv Otorhinolaryngol; 2002 May 01; 61():161-7. PubMed ID: 12408080
    [No Abstract] [Full Text] [Related]

  • 19. X-linked deafness with stapes gusher in females.
    Papadaki E, Prassopoulos P, Bizakis J, Karampekios S, Papadakis H, Gourtsoyiannis N.
    Eur J Radiol; 1998 Nov 01; 29(1):71-5. PubMed ID: 9934561
    [Abstract] [Full Text] [Related]

  • 20. Clinical and genetic heterogeneity in X-linked deafness.
    Reardon W, Middleton-Price HR, Malcolm S, Phelps P, Bellman S, Luxon L, Martin JA, Bumby A, Pembrey ME.
    Br J Audiol; 1992 Apr 01; 26(2):109-14. PubMed ID: 1628115
    [Abstract] [Full Text] [Related]

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