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Journal Abstract Search

86 related items for PubMed ID: 9934982

  • 1. Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22.
    Anderson JL, Khan M, David WS, Mahdavi Z, Nuttall FQ, Krech E, West SG, Vance JM, Pericak-Vance MA, Nance MA.
    Am J Med Genet; 1999 Jan 15; 82(2):161-5. PubMed ID: 9934982
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  • 2. Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22.
    Peters JM, Barnes R, Bennett L, Gitomer WM, Bowcock AM, Garg A.
    Nat Genet; 1998 Mar 15; 18(3):292-5. PubMed ID: 9500556
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  • 3. Suggestive linkage of familial primary cutaneous amyloidosis to a locus on chromosome 1q23.
    Lin MW, Lee DD, Lin CH, Huang CY, Wong CK, Chang YT, Liu HN, Hsiao KJ, Tsai SF.
    Br J Dermatol; 2005 Jan 15; 152(1):29-36. PubMed ID: 15656797
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  • 4. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.
    Magré J, Delépine M, Khallouf E, Gedde-Dahl T, Van Maldergem L, Sobel E, Papp J, Meier M, Mégarbané A, Bachy A, Verloes A, d'Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, Lanza M, Loret H, Matsuda F, Navarro J, Nivelon-Chevalier A, Polak M, Robert JJ, Tric P, Tubiana-Rufi N, Vigouroux C, Weissenbach J, Savasta S, Maassen JA, Trygstad O, Bogalho P, Freitas P, Medina JL, Bonnicci F, Joffe BI, Loyson G, Panz VR, Raal FJ, O'Rahilly S, Stephenson T, Kahn CR, Lathrop M, Capeau J, BSCL Working Group.
    Nat Genet; 2001 Aug 15; 28(4):365-70. PubMed ID: 11479539
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  • 5. Linkage of type II and type III cystinuria to 19q13.1: codominant inheritance of two cystinuric alleles at 19q13.1 produces an extreme stone-forming phenotype.
    Stoller ML, Bruce JE, Bruce CA, Foroud T, Kirkwood SC, Stambrook PJ.
    Am J Med Genet; 1999 Sep 10; 86(2):134-9. PubMed ID: 10449648
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  • 6. Refined localization of dyschromatosis symmetrica hereditaria gene to a 9.4-cM region at 1q21-22 and a literature review of 136 cases reported in China.
    He PP, He CD, Cui Y, Yang S, Xu HH, Li M, Yuan WT, Gao M, Liang YH, Li CR, Xu SJ, Chen JJ, Chen HD, Huang W, Zhang XJ.
    Br J Dermatol; 2004 Apr 10; 150(4):633-9. PubMed ID: 15099357
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  • 7. Localization of a gene for familial juvenile hyperuricemic nephropathy causing underexcretion-type gout to 16p12 by genome-wide linkage analysis of a large family.
    Kamatani N, Moritani M, Yamanaka H, Takeuchi F, Hosoya T, Itakura M.
    Arthritis Rheum; 2000 Apr 10; 43(4):925-9. PubMed ID: 10765940
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  • 9. Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12.
    Berkovic SF, Serratosa JM, Phillips HA, Xiong L, Andermann E, Díaz-Otero F, Gómez-Garre P, Martín M, Fernández-Bullido Y, Andermann F, Lopes-Cendes I, Dubeau F, Desbiens R, Scheffer IE, Wallace RH, Mulley JC, Pandolfo M.
    Epilepsia; 2004 Sep 10; 45(9):1054-60. PubMed ID: 15329069
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  • 10. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
    Shackleton S, Lloyd DJ, Jackson SN, Evans R, Niermeijer MF, Singh BM, Schmidt H, Brabant G, Kumar S, Durrington PN, Gregory S, O'Rahilly S, Trembath RC.
    Nat Genet; 2000 Feb 10; 24(2):153-6. PubMed ID: 10655060
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  • 15. Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma.
    Niemann S, Becker-Follmann J, Nürnberg G, Rüschendorf F, Sieweke N, Hügens-Penzel M, Traupe H, Wienker TF, Reis A, Müller U.
    Am J Med Genet; 2001 Jan 01; 98(1):32-6. PubMed ID: 11426453
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  • 16. A defect in the regional deposition of adipose tissue (partial lipodystrophy) is encoded by a gene at chromosome 1q.
    Jackson SN, Pinkney J, Bargiotta A, Veal CD, Howlett TA, McNally PG, Corral R, Johnson A, Trembath RC.
    Am J Hum Genet; 1998 Aug 01; 63(2):534-40. PubMed ID: 9683602
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  • 17. A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3.
    Shovlin CL, Hughes JM, Tuddenham EG, Temperley I, Perembelon YF, Scott J, Seidman CE, Seidman JG.
    Nat Genet; 1994 Feb 01; 6(2):205-9. PubMed ID: 8162076
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  • 18. Refinement of a locus for Marie Unna hereditary hypotrichosis to a 1.1-cM interval at 8p21.3.
    He PP, Zhang XJ, Yang Q, Li M, Liang YH, Yang S, Yan KL, Cui Y, Shen YY, Wang HY, Sun LD, Du WH, Shen YJ, Xu SJ, Huang W.
    Br J Dermatol; 2004 May 01; 150(5):837-42. PubMed ID: 15149494
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  • 19. The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes.
    McKay JD, Patterson B, Craig JE, Russell-Eggitt IM, Wirth MG, Burdon KP, Hewitt AW, Cohn AC, Kerdraon Y, Mackey DA.
    Br J Ophthalmol; 2005 Jul 01; 89(7):831-4. PubMed ID: 15965161
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  • 20. [Genetic analysis of a Chinese pedigree with congenital synpolydactyly].
    Qin W, Shu AL, Xing QH, Yang MS, Feng GY, He L.
    Yi Chuan Xue Bao; 2003 Oct 01; 30(10):973-7. PubMed ID: 14669516
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