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Journal Abstract Search

360 related items for PubMed ID: 10512674

  • 1. Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping.
    Hand CK, Harmon DL, Kennedy SM, FitzSimon JS, Collum LM, Parfrey NA.
    Genomics; 1999 Oct 01; 61(1):1-4. PubMed ID: 10512674
    [Abstract] [Full Text] [Related]

  • 2. Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11.
    Jiao X, Sultana A, Garg P, Ramamurthy B, Vemuganti GK, Gangopadhyay N, Hejtmancik JF, Kannabiran C.
    J Med Genet; 2007 Jan 01; 44(1):64-8. PubMed ID: 16825429
    [Abstract] [Full Text] [Related]

  • 3. Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct.
    Callaghan M, Hand CK, Kennedy SM, FitzSimon JS, Collum LM, Parfrey NA.
    Br J Ophthalmol; 1999 Jan 01; 83(1):115-9. PubMed ID: 10209448
    [Abstract] [Full Text] [Related]

  • 4. Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci.
    Kanis AB, Al-Rajhi AA, Taylor CM, Mathers WD, Folberg RY, Nishimura DY, Sheffield VC, Stone EM.
    Ophthalmic Genet; 1999 Dec 01; 20(4):243-9. PubMed ID: 10617922
    [Abstract] [Full Text] [Related]

  • 5. Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome).
    Desir J, Abramowicz M.
    Orphanet J Rare Dis; 2008 Oct 15; 3():28. PubMed ID: 18922146
    [Abstract] [Full Text] [Related]

  • 6. Linkage mapping of Thiel-Behnke corneal dystrophy (CDB2) to chromosome 10q23-q24.
    Yee RW, Sullivan LS, Lai HT, Stock EL, Lu Y, Khan MN, Blanton SH, Daiger SP.
    Genomics; 1997 Nov 15; 46(1):152-4. PubMed ID: 9403072
    [Abstract] [Full Text] [Related]

  • 7. Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene.
    Gwilliam R, Liskova P, Filipec M, Kmoch S, Jirsova K, Huckle EJ, Stables CL, Bhattacharya SS, Hardcastle AJ, Deloukas P, Ebenezer ND.
    Invest Ophthalmol Vis Sci; 2005 Dec 15; 46(12):4480-4. PubMed ID: 16303937
    [Abstract] [Full Text] [Related]

  • 8. Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3.
    Finckh U, Xu S, Kumaramanickavel G, Schürmann M, Mukkadan JK, Fernandez ST, John S, Weber JL, Denton MJ, Gal A.
    Genomics; 1998 Mar 15; 48(3):341-5. PubMed ID: 9545639
    [Abstract] [Full Text] [Related]

  • 9. A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13.
    Hameed A, Khaliq S, Ismail M, Anwar K, Ebenezer ND, Jordan T, Mehdi SQ, Payne AM, Bhattacharya SS.
    Invest Ophthalmol Vis Sci; 2000 Mar 15; 41(3):629-33. PubMed ID: 10711674
    [Abstract] [Full Text] [Related]

  • 10. A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family.
    Riazuddin SA, Yasmeen A, Zhang Q, Yao W, Sabar MF, Ahmed Z, Riazuddin S, Hejtmancik JF.
    Invest Ophthalmol Vis Sci; 2005 Feb 15; 46(2):623-6. PubMed ID: 15671291
    [Abstract] [Full Text] [Related]

  • 11. A gene for primary congenital glaucoma is not linked to the locus on chromosome 1q for autosomal dominant juvenile-onset open angle glaucoma.
    Anderson KL, Lewis RA, Bejjani BA, Baird L, Otterud B, Tomey KF, Astle WF, Dueker DK, Leppert M, Lupski JR.
    J Glaucoma; 1996 Dec 15; 5(6):416-21. PubMed ID: 8946299
    [Abstract] [Full Text] [Related]

  • 12. Three autosomal dominant corneal dystrophies map to chromosome 5q.
    Stone EM, Mathers WD, Rosenwasser GO, Holland EJ, Folberg R, Krachmer JH, Nichols BE, Gorevic PD, Taylor CM, Streb LM.
    Nat Genet; 1994 Jan 15; 6(1):47-51. PubMed ID: 8136834
    [Abstract] [Full Text] [Related]

  • 13. Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32.
    Wali A, Chishti M, Ayub M, Yasinzai M, Kafaitullah, Ali G, John P, Ahmad W.
    Clin Genet; 2007 Jul 15; 72(1):23-9. PubMed ID: 17594396
    [Abstract] [Full Text] [Related]

  • 14. Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family.
    Shah SS, Al-Rajhi A, Brandt JD, Mannis MJ, Roos B, Sheffield VC, Syed NA, Stone EM, Fingert JH.
    Ophthalmic Genet; 2008 Mar 15; 29(1):41-5. PubMed ID: 18363173
    [Abstract] [Full Text] [Related]

  • 15. Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia.
    Aldahmesh MA, Khan AO, Meyer BF, Alkuraya FS.
    Invest Ophthalmol Vis Sci; 2009 Sep 15; 50(9):4142-5. PubMed ID: 19369245
    [Abstract] [Full Text] [Related]

  • 16. Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy.
    Sultana A, Garg P, Ramamurthy B, Vemuganti GK, Kannabiran C.
    Mol Vis; 2007 Jul 26; 13():1327-32. PubMed ID: 17679935
    [Abstract] [Full Text] [Related]

  • 17. CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene.
    Danciger M, Hendrickson J, Lyon J, Toomes C, McHale JC, Fishman GA, Inglehearn CF, Jacobson SG, Farber DB.
    Invest Ophthalmol Vis Sci; 2001 Oct 26; 42(11):2458-65. PubMed ID: 11581183
    [Abstract] [Full Text] [Related]

  • 18. Linkage of congenital hereditary endothelial dystrophy to chromosome 20.
    Toma NM, Ebenezer ND, Inglehearn CF, Plant C, Ficker LA, Bhattacharya SS.
    Hum Mol Genet; 1995 Dec 26; 4(12):2395-8. PubMed ID: 8634716
    [Abstract] [Full Text] [Related]

  • 19. Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4.
    Tlili A, Masmoudi S, Dhouib H, Bouaziz S, Rebeh IB, Chouchen J, Turki K, Benzina Z, Charfedine I, Drira M, Ayadi H.
    Ann Hum Genet; 2007 Mar 26; 71(Pt 2):271-5. PubMed ID: 17166180
    [Abstract] [Full Text] [Related]

  • 20. Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region.
    Fischer J, Blanchet-Bardon C, Prud'homme JF, Pavek S, Steijlen PM, Dubertret L, Weissenbach J.
    Eur J Hum Genet; 1997 Mar 26; 5(3):156-60. PubMed ID: 9272739
    [Abstract] [Full Text] [Related]

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