These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

135 related articles for article (PubMed ID: 9158143)

  • 1. Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling.
    Arbour NC; Zlotogora J; Knowlton RG; Merin S; Rosenmann A; Kanis AB; Rokhlina T; Stone EM; Sheffield VC
    Hum Mol Genet; 1997 May; 6(5):689-94. PubMed ID: 9158143
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Homozygosity mapping of the Achromatopsia locus in the Pingelapese.
    Winick JD; Blundell ML; Galke BL; Salam AA; Leal SM; Karayiorgou M
    Am J Hum Genet; 1999 Jun; 64(6):1679-85. PubMed ID: 10330355
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint.
    Walder RY; Shalev H; Brennan TM; Carmi R; Elbedour K; Scott DA; Hanauer A; Mark AL; Patil S; Stone EM; Sheffield VC
    Hum Mol Genet; 1997 Sep; 6(9):1491-7. PubMed ID: 9285786
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping.
    Nichols WC; Seligsohn U; Zivelin A; Terry VH; Arnold ND; Siemieniak DR; Kaufman RJ; Ginsburg D
    J Clin Invest; 1997 Feb; 99(4):596-601. PubMed ID: 9045860
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Homozygosity mapping at Alström syndrome to chromosome 2p.
    Collin GB; Marshall JD; Cardon LR; Nishina PM
    Hum Mol Genet; 1997 Feb; 6(2):213-9. PubMed ID: 9063741
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A locus for autosomal recessive achromatopsia on human chromosome 8q.
    Milunsky A; Huang XL; Milunsky J; DeStefano A; Baldwin CT
    Clin Genet; 1999 Jul; 56(1):82-5. PubMed ID: 10466422
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11.
    Wissinger B; Jägle H; Kohl S; Broghammer M; Baumann B; Hanna DB; Hedels C; Apfelstedt-Sylla E; Randazzo G; Jacobson SG; Zrenner E; Sharpe LT
    Genomics; 1998 Aug; 51(3):325-31. PubMed ID: 9721202
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1).
    Brown J; Fingert JH; Taylor CM; Lake M; Sheffield VC; Stone EM
    Arch Ophthalmol; 1997 Jan; 115(1):95-9. PubMed ID: 9006432
    [TBL] [Abstract][Full Text] [Related]  

  • 10. An ancient autosomal haplotype bearing a rare achromatopsia-causing founder mutation is shared among Arab Muslims and Oriental Jews.
    Zelinger L; Greenberg A; Kohl S; Banin E; Sharon D
    Hum Genet; 2010 Sep; 128(3):261-7. PubMed ID: 20549516
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24.
    Khaliq S; Hameed A; Ismail M; Anwar K; Leroy BP; Mehdi SQ; Payne AM; Bhattacharya SS
    Invest Ophthalmol Vis Sci; 2000 Nov; 41(12):3709-12. PubMed ID: 11053266
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands.
    Nystuen A; Benke PJ; Merren J; Stone EM; Sheffield VC
    Hum Mol Genet; 1996 Apr; 5(4):525-31. PubMed ID: 8845847
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16.
    Pras E; Aksentijevich I; Gruberg L; Balow JE; Prosen L; Dean M; Steinberg AD; Pras M; Kastner DL
    N Engl J Med; 1992 Jun; 326(23):1509-13. PubMed ID: 1579134
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.
    Pannain S; Weiss RE; Jackson CE; Dian D; Beck JC; Sheffield VC; Cox N; Refetoff S
    J Clin Endocrinol Metab; 1999 Mar; 84(3):1061-71. PubMed ID: 10084596
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomaly.
    Mellott ML; Brown J; Fingert JH; Taylor CM; Keech RV; Sheffield VC; Stone EM
    Arch Ophthalmol; 1999 Dec; 117(12):1630-3. PubMed ID: 10604668
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutation of ATF6 causes autosomal recessive achromatopsia.
    Ansar M; Santos-Cortez RL; Saqib MA; Zulfiqar F; Lee K; Ashraf NM; Ullah E; Wang X; Sajid S; Khan FS; Amin-ud-Din M; ; Smith JD; Shendure J; Bamshad MJ; Nickerson DA; Hameed A; Riazuddin S; Ahmed ZM; Ahmad W; Leal SM
    Hum Genet; 2015 Sep; 134(9):941-50. PubMed ID: 26063662
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity.
    Christodoulou K; Tsingis M; Deymeer F; Serdaroglu P; Ozdemir C; Al-Shehab A; Bairactaris C; Mavromatis I; Mylonas I; Evoli A; Kyriallis K; Middleton LT
    Hum Mol Genet; 1997 Apr; 6(4):635-40. PubMed ID: 9097970
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping.
    Haider NB; Carmi R; Shalev H; Sheffield VC; Landau D
    Am J Hum Genet; 1998 Nov; 63(5):1404-10. PubMed ID: 9792867
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Homozygosity mapping of the Werner syndrome locus (WRN).
    Nakura J; Wijsman EM; Miki T; Kamino K; Yu CE; Oshima J; Fukuchi K; Weber JL; Piussan C; Melaragno MI
    Genomics; 1994 Oct; 23(3):600-8. PubMed ID: 7851888
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13.
    Narkis G; Landau D; Manor E; Elbedour K; Tzemach A; Fishelson M; Geiger D; Ofir R; Carmi R; Birk OS
    Am J Med Genet A; 2004 Oct; 130A(3):272-6. PubMed ID: 15378541
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.