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181 related items for PubMed ID: 8824802

  • 1. Detection of a megabase deletion in a patient with branchio-oto-renal syndrome (BOR) and tricho-rhino-phalangeal syndrome (TRPS): implications for mapping and cloning the BOR gene.
    Gu JZ, Wagner MJ, Haan EA, Wells DE.
    Genomics; 1996 Jan 15; 31(2):201-6. PubMed ID: 8824802
    [Abstract] [Full Text] [Related]

  • 2. Narrowing the genetic interval and yeast artificial chromosome map in the branchio-oto-renal region on chromosome 8q.
    Kumar S, Kimberling WJ, Lanyi A, Sumegi J, Pinnt J, Ing P, Tinley S, Marres HA, Cremers CW.
    Genomics; 1996 Jan 01; 31(1):71-9. PubMed ID: 8808282
    [Abstract] [Full Text] [Related]

  • 3. Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3).
    Stratakis CA, Lin JP, Rennert OM.
    Am J Med Genet; 1998 Sep 23; 79(3):209-14. PubMed ID: 9788564
    [Abstract] [Full Text] [Related]

  • 4. Characterization of a translocation-associated deletion defines the candidate region for the gene responsible for branchio-oto-renal syndrome.
    Kalatzis V, Abdelhak S, Compain S, Vincent C, Petit C.
    Genomics; 1996 Jun 15; 34(3):422-5. PubMed ID: 8786145
    [Abstract] [Full Text] [Related]

  • 5. Localization of branchio-oto-renal (BOR) syndrome to a 3 Mb region of chromosome 8q.
    Wang Y, Treat K, Schroer RJ, O'Brien JE, Stevenson RE, Schwartz CE.
    Am J Med Genet; 1994 Jun 01; 51(2):169-75. PubMed ID: 8092198
    [Abstract] [Full Text] [Related]

  • 6. Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q.
    Haan EA, Hull YJ, White S, Cockington R, Charlton P, Callen DF.
    Am J Med Genet; 1989 Apr 01; 32(4):490-4. PubMed ID: 2773990
    [Abstract] [Full Text] [Related]

  • 7. Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13.
    Kumar S, Marres HA, Cremers CW, Kimberling WJ.
    Am J Med Genet; 1998 Apr 13; 76(5):395-401. PubMed ID: 9556298
    [Abstract] [Full Text] [Related]

  • 8. [Molecular-genetic characteristics of the deleted region of chromosome 8q24.1 in Langer-Giedion and tricho-rhino-phalangeal type I syndromes].
    Nemtsova MV, Iatsenko AN, Kuleshov NP, Novikov PV, Meerson EM, Zaletaev DV.
    Genetika; 1996 Jul 13; 32(7):978-84. PubMed ID: 8974918
    [Abstract] [Full Text] [Related]

  • 9. Refining the region of branchio-oto-renal syndrome and defining the flanking markers on chromosome 8q by genetic mapping.
    Kumar S, Kimberling WJ, Connolly CJ, Tinley S, Marres HA, Cremers CW.
    Am J Hum Genet; 1994 Dec 13; 55(6):1188-94. PubMed ID: 7977379
    [Abstract] [Full Text] [Related]

  • 10. A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.
    Vincent C, Kalatzis V, Compain S, Levilliers J, Slim R, Graia F, Pereira ML, Nivelon A, Croquette MF, Lacombe D.
    Hum Mol Genet; 1994 Oct 13; 3(10):1859-66. PubMed ID: 7849713
    [Abstract] [Full Text] [Related]

  • 11. Tricho-rhino-phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion.
    Ramos FJ, McDonald-McGinn DM, Emanuel BS, Zackai EH.
    Am J Med Genet; 1992 Dec 01; 44(6):790-4. PubMed ID: 1481848
    [Abstract] [Full Text] [Related]

  • 12. The human B22 subunit of the NADH-ubiquinone oxidoreductase maps to the region of chromosome 8 involved in branchio-oto-renal syndrome.
    Gu JZ, Lin X, Wells DE.
    Genomics; 1996 Jul 01; 35(1):6-10. PubMed ID: 8661098
    [Abstract] [Full Text] [Related]

  • 13. Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis.
    Ni L, Wagner MJ, Kimberling WJ, Pembrey ME, Grundfast KM, Kumar S, Daiger SP, Wells DE, Johnson K, Smith RJ.
    Am J Med Genet; 1994 Jun 01; 51(2):176-84. PubMed ID: 8092199
    [Abstract] [Full Text] [Related]

  • 14. Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome.
    Lüdecke HJ, Wagner MJ, Nardmann J, La Pillo B, Parrish JE, Willems PJ, Haan EA, Frydman M, Hamers GJ, Wells DE.
    Hum Mol Genet; 1995 Jan 01; 4(1):31-6. PubMed ID: 7711731
    [Abstract] [Full Text] [Related]

  • 15. BOR and BO syndromes are allelic defects of EYA1.
    Vincent C, Kalatzis V, Abdelhak S, Chaib H, Compain S, Helias J, Vaneecloo FM, Petit C.
    Eur J Hum Genet; 1997 Jan 01; 5(4):242-6. PubMed ID: 9359046
    [Abstract] [Full Text] [Related]

  • 16. A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1).
    Hou J, Parrish J, Lüdecke HJ, Sapru M, Wang Y, Chen W, Hill A, Siegel-Bartelt J, Northrup H, Elder FF.
    Genomics; 1995 Sep 01; 29(1):87-97. PubMed ID: 8530105
    [Abstract] [Full Text] [Related]

  • 17. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.
    Momeni P, Glöckner G, Schmidt O, von Holtum D, Albrecht B, Gillessen-Kaesbach G, Hennekam R, Meinecke P, Zabel B, Rosenthal A, Horsthemke B, Lüdecke HJ.
    Nat Genet; 2000 Jan 01; 24(1):71-4. PubMed ID: 10615131
    [Abstract] [Full Text] [Related]

  • 18. Branchio-oto-renal syndrome.
    Millman B, Gibson WS, Foster WP.
    Arch Otolaryngol Head Neck Surg; 1995 Aug 01; 121(8):922-5. PubMed ID: 7619422
    [Abstract] [Full Text] [Related]

  • 19. Autosomal dominant branchio-oto-renal syndrome--localization of a disease gene to chromosome 8q by linkage in a Dutch family.
    Kumar S, Kimberling WJ, Kenyon JB, Smith RJ, Marres HA, Cremers CW.
    Hum Mol Genet; 1992 Oct 01; 1(7):491-5. PubMed ID: 1307249
    [Abstract] [Full Text] [Related]

  • 20. The tricho-rhino-phalangeal syndromes: frequency and parental origin of 8q deletions.
    Nardmann J, Tranebjaerg L, Horsthemke B, Lüdecke HJ.
    Hum Genet; 1997 May 01; 99(5):638-43. PubMed ID: 9150732
    [Abstract] [Full Text] [Related]

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