BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

76 related articles for article (PubMed ID: 10817658)

  • 1. Genetic fine mapping of the gene for nonsyndromic congenital retinal nonattachment.
    Ghiasvand NM; Fleming TP; Helms C; Avisa A; Donis-Keller H
    Am J Med Genet; 2000 May; 92(3):220-3. PubMed ID: 10817658
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Nonsyndromic congenital retinal nonattachment gene maps to human chromosome band 10q21.
    Ghiasvand NM; Kanis AB; Helms C; Sheffield VC; Stone EM; Donis-Keller H
    Am J Med Genet; 2000 Jan; 90(2):165-8. PubMed ID: 10607958
    [TBL] [Abstract][Full Text] [Related]  

  • 3. High incidence of autosomal recessive nonsyndromal congenital retinal nonattachment (NCRNA) in an Iranian founding population.
    Ghiasvand NM; Shirzad E; Naghavi M; Vaez Mahdavi MR
    Am J Med Genet; 1998 Jul; 78(3):226-32. PubMed ID: 9677055
    [TBL] [Abstract][Full Text] [Related]  

  • 4. NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies.
    Bessant DA; Payne AM; Plant C; Bird AC; Swaroop A; Bhattacharya SS
    Eur J Hum Genet; 2000 Oct; 8(10):783-7. PubMed ID: 11039579
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Linkage mapping of ovine microphthalmia to chromosome 23, the sheep orthologue of human chromosome 18.
    Tetens J; Ganter M; Müller G; Drögemüller C
    Invest Ophthalmol Vis Sci; 2007 Aug; 48(8):3506-15. PubMed ID: 17652717
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 8(5):372-80. PubMed ID: 10854098
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.
    Cohen D; Bar-Yosef U; Levy J; Gradstein L; Belfair N; Ofir R; Joshua S; Lifshitz T; Carmi R; Birk OS
    Invest Ophthalmol Vis Sci; 2007 May; 48(5):2208-13. PubMed ID: 17460281
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome.
    Hadj-Rabia S; Salomon R; Pelet A; Penet C; Rotschild A; de Laët MH; Chaouachi B; Hannachi R; Bakiri F; Brauner R; Chaussain JL; Munnich A; Lyonnet S
    Eur J Hum Genet; 2000 Aug; 8(8):613-20. PubMed ID: 10951524
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Refined mapping of the autosomal recessive non-syndromic deafness locus DFNB13 using eight novel microsatellite markers.
    Masmoudi S; Charfedine I; Rebeh IB; Rebai A; Tlili A; Ghorbel AM; Belguith H; Petit C; Drira M; Ayadi H
    Clin Genet; 2004 Oct; 66(4):358-64. PubMed ID: 15355440
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews.
    Auslender N; Sharon D; Abbasi AH; Garzozi HJ; Banin E; Ben-Yosef T
    Invest Ophthalmol Vis Sci; 2007 Dec; 48(12):5431-8. PubMed ID: 18055789
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.
    Smaoui N; Beltaief O; BenHamed S; M'Rad R; Maazoul F; Ouertani A; Chaabouni H; Hejtmancik JF
    Invest Ophthalmol Vis Sci; 2004 Aug; 45(8):2716-21. PubMed ID: 15277496
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36.
    Jiao X; Ritter R; Hejtmancik JF; Edwards AO
    Invest Ophthalmol Vis Sci; 2004 Dec; 45(12):4498-503. PubMed ID: 15557460
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population.
    Howard HC; Dubé MP; Prévost C; Bouchard JP; Mathieu J; Rouleau GA
    Eur J Hum Genet; 2002 Jul; 10(7):406-12. PubMed ID: 12107814
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Giant axonal neuropathy locus refinement to a < 590 kb critical interval.
    Cavalier L; BenHamida C; Amouri R; Belal S; Bomont P; Lagarde N; Gressin L; Callen D; Demir E; Topaloglu H; Landrieu P; Ioos C; Hamida MB; Koenig M; Hentati F
    Eur J Hum Genet; 2000 Jul; 8(7):527-34. PubMed ID: 10909853
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 46(2):623-6. PubMed ID: 15671291
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1.
    Masmoudi S; Tlili A; Majava M; Ghorbel AM; Chardenoux S; Lemainque A; Zina ZB; Moala J; Männikkö M; Weil D; Lathrop M; Ala-Kokko L; Drira M; Petit C; Ayadi H
    Eur J Hum Genet; 2003 Feb; 11(2):185-8. PubMed ID: 12634867
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Evidence of a founder effect and refinement of the hereditary neuralgic amyotrophy (HNA) locus on 17q25 in American families.
    Watts GD; O'Briant KC; Chance PF
    Hum Genet; 2002 Feb; 110(2):166-72. PubMed ID: 11935323
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Analysis of linkage and linkage disequilibrium for eight X-STR markers.
    Tillmar AO; Mostad P; Egeland T; Lindblom B; Holmlund G; Montelius K
    Forensic Sci Int Genet; 2008 Dec; 3(1):37-41. PubMed ID: 19083865
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Evidence of a common founder for SCA12 in the Indian population.
    Bahl S; Virdi K; Mittal U; Sachdeva MP; Kalla AK; Holmes SE; O'Hearn E; Margolis RL; Jain S; Srivastava AK; Mukerji M
    Ann Hum Genet; 2005 Sep; 69(Pt 5):528-34. PubMed ID: 16138911
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous.
    Khaliq S; Hameed A; Ismail M; Anwar K; Leroy B; Payne AM; Bhattacharya SS; Mehdi SQ
    Invest Ophthalmol Vis Sci; 2001 Sep; 42(10):2225-8. PubMed ID: 11527934
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 4.