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Journal Abstract Search

237 related items for PubMed ID: 10090896

  • 1. Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31.
    Blumenfeld A, Slaugenhaupt SA, Liebert CB, Temper V, Maayan C, Gill S, Lucente DE, Idelson M, MacCormack K, Monahan MA, Mull J, Leyne M, Mendillo M, Schiripo T, Mishori E, Breakefield X, Axelrod FB, Gusella JF.
    Am J Hum Genet; 1999 Apr; 64(4):1110-8. PubMed ID: 10090896
    [Abstract] [Full Text] [Related]

  • 2. Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis.
    Blumenfeld A, Slaugenhaupt SA, Axelrod FB, Lucente DE, Maayan C, Liebert CB, Ozelius LJ, Trofatter JA, Haines JL, Breakefield XO.
    Nat Genet; 1993 Jun; 4(2):160-4. PubMed ID: 8102296
    [Abstract] [Full Text] [Related]

  • 3. Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews.
    Glaser B, Chiu KC, Liu L, Anker R, Nestorowicz A, Cox NJ, Landau H, Kaiser N, Thornton PS, Stanley CA.
    Hum Mol Genet; 1995 May; 4(5):879-86. PubMed ID: 7633448
    [Abstract] [Full Text] [Related]

  • 4. Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33.
    Eng CM, Slaugenhaupt SA, Blumenfeld A, Axelrod FB, Gusella JF, Desnick RJ.
    Am J Med Genet; 1995 Nov 20; 59(3):349-55. PubMed ID: 8599360
    [Abstract] [Full Text] [Related]

  • 5. Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.
    Diaz GA, Gelb BD, Risch N, Nygaard TG, Frisch A, Cohen IJ, Miranda CS, Amaral O, Maire I, Poenaru L, Caillaud C, Weizberg M, Mistry P, Desnick RJ.
    Am J Hum Genet; 2000 Jun 20; 66(6):1821-32. PubMed ID: 10777718
    [Abstract] [Full Text] [Related]

  • 6. The trimmed-haplotype test for linkage disequilibrium.
    MacLean CJ, Martin RB, Sham PC, Wang H, Straub RE, Kendler KS.
    Am J Hum Genet; 2000 Mar 20; 66(3):1062-75. PubMed ID: 10712218
    [Abstract] [Full Text] [Related]

  • 7. Exclusion of familial dysautonomia from more than 60% of the genome.
    Blumenfeld A, Axelrod FB, Trofatter JA, Maayan C, Lucente DE, Slaugenhaupt SA, Liebert CB, Ozelius LJ, Haines JL, Breakefield XO.
    J Med Genet; 1993 Jan 20; 30(1):47-52. PubMed ID: 8093738
    [Abstract] [Full Text] [Related]

  • 8. Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes.
    Slaugenhaupt SA, Acierno JS, Helbling LA, Bove C, Goldin E, Bach G, Schiffmann R, Gusella JF.
    Am J Hum Genet; 1999 Sep 20; 65(3):773-8. PubMed ID: 10441585
    [Abstract] [Full Text] [Related]

  • 9. Transmission/disequilibrium tests for extended marker haplotypes.
    Clayton D, Jones H.
    Am J Hum Genet; 1999 Oct 20; 65(4):1161-9. PubMed ID: 10486335
    [Abstract] [Full Text] [Related]

  • 10. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.
    Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D, Scheidereit C, Maayan C, Axelrod FB, Gusella JF.
    Am J Hum Genet; 2001 Mar 20; 68(3):598-605. PubMed ID: 11179008
    [Abstract] [Full Text] [Related]

  • 11. Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews.
    Ozelius LJ, Kramer PL, de Leon D, Risch N, Bressman SB, Schuback DE, Brin MF, Kwiatkowski DJ, Burke RE, Gusella JF.
    Am J Hum Genet; 1992 Mar 20; 50(3):619-28. PubMed ID: 1347197
    [Abstract] [Full Text] [Related]

  • 12. Prenatal diagnostic testing for familial dysautonomia using linked genetic markers.
    Oddoux C, Reich E, Axelrod F, Blumenfeld A, Maayan C, Slaugenhaupt S, Gusella J, Ostrer H.
    Prenat Diagn; 1995 Sep 20; 15(9):817-26. PubMed ID: 8559751
    [Abstract] [Full Text] [Related]

  • 13. Localization of the familial Mediterranean fever gene (FMF) to a 250-kb interval in non-Ashkenazi Jewish founder haplotypes. The French FMF Consortium.
    Am J Hum Genet; 1996 Sep 20; 59(3):603-12. PubMed ID: 8751861
    [Abstract] [Full Text] [Related]

  • 14. Familial dysautonomia is caused by mutations of the IKAP gene.
    Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, Ekstein J, Rubin BY.
    Am J Hum Genet; 2001 Mar 20; 68(3):753-8. PubMed ID: 11179021
    [Abstract] [Full Text] [Related]

  • 15. Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data.
    Colombo R.
    Am J Hum Genet; 2000 Feb 20; 66(2):692-7. PubMed ID: 10677327
    [Abstract] [Full Text] [Related]

  • 16. Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype.
    Cerosaletti KM, Lange E, Stringham HM, Weemaes CM, Smeets D, Sölder B, Belohradsky BH, Taylor AM, Karnes P, Elliott A, Komatsu K, Gatti RA, Boehnke M, Concannon P.
    Am J Hum Genet; 1998 Jul 20; 63(1):125-34. PubMed ID: 9634525
    [Abstract] [Full Text] [Related]

  • 17. Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping.
    Kibar Z, Dubé MP, Powell J, McCuaïg C, Hayflick SJ, Zonana J, Hovnanian A, Radhakrishna U, Antonarakis SE, Benohanian A, Sheeran AD, Stephan ML, Gosselin R, Kelsell DP, Christianson AL, Fraser FC, Der Kaloustian VM, Rouleau GA.
    Eur J Hum Genet; 2000 May 20; 8(5):372-80. PubMed ID: 10854098
    [Abstract] [Full Text] [Related]

  • 18. A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.
    Weiler T, Greenberg CR, Zelinski T, Nylen E, Coghlan G, Crumley MJ, Fujiwara TM, Morgan K, Wrogemann K.
    Am J Hum Genet; 1998 Jul 20; 63(1):140-7. PubMed ID: 9634523
    [Abstract] [Full Text] [Related]

  • 19. Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews.
    Durst R, Colombo R, Shpitzen S, Avi LB, Friedlander Y, Wexler R, Raal FJ, Marais DA, Defesche JC, Mandelshtam MY, Kotze MJ, Leitersdorf E, Meiner V.
    Am J Hum Genet; 2001 May 20; 68(5):1172-88. PubMed ID: 11309683
    [Abstract] [Full Text] [Related]

  • 20. Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12.
    Xiong L, Labuda M, Li DS, Hudson TJ, Desbiens R, Patry G, Verret S, Langevin P, Mercho S, Seni MH, Scheffer I, Dubeau F, Berkovic SF, Andermann F, Andermann E, Pandolfo M.
    Am J Hum Genet; 1999 Dec 20; 65(6):1698-710. PubMed ID: 10577924
    [Abstract] [Full Text] [Related]

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