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Journal Abstract Search

493 related items for PubMed ID: 7888141

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  • 3. A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.
    Meijer H, de Graaff E, Merckx DM, Jongbloed RJ, de Die-Smulders CE, Engelen JJ, Fryns JP, Curfs PM, Oostra BA.
    Hum Mol Genet; 1994 Apr; 3(4):615-20. PubMed ID: 8069307
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  • 5. Fragile X syndrome without CCG amplification has an FMR1 deletion.
    Gedeon AK, Baker E, Robinson H, Partington MW, Gross B, Manca A, Korn B, Poustka A, Yu S, Sutherland GR.
    Nat Genet; 1992 Aug; 1(5):341-4. PubMed ID: 1302032
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  • 6. Fragile X mutation and FG syndrome-like phenotype.
    Piussan C, Mathieu M, Berquin P, Fryns JP.
    Am J Med Genet; 1996 Aug 09; 64(2):395-8. PubMed ID: 8844090
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  • 10. Fragile X mental retardation syndrome: from pathogenesis to diagnostic issues.
    Mandel JL, Biancalana V.
    Growth Horm IGF Res; 2004 Jun 09; 14 Suppl A():S158-65. PubMed ID: 15135801
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  • 11. Mosaicism in a fragile X male including a de novo deletion in the FMR1 gene.
    Petek E, Kroisel PM, Schuster M, Zierler H, Wagner K.
    Am J Med Genet; 1999 May 28; 84(3):229-32. PubMed ID: 10331598
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  • 12. Fragile X syndrome a case report of a family.
    Chatterjee C, Guha D, Das S, Singh SK, Dasgupta U, Saha S, Bannerjee D.
    Indian J Pathol Microbiol; 2001 Oct 28; 44(4):499-502. PubMed ID: 12035381
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  • 16. Fragile X syndrome with FMR1 and FMR2 deletion.
    Moore SJ, Strain L, Cole GF, Miedzybrodzka Z, Kelly KF, Dean JC.
    J Med Genet; 1999 Jul 28; 36(7):565-6. PubMed ID: 10424820
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  • 18. Molecular predictors of cognitive involvement in female carriers of fragile X syndrome.
    Taylor AK, Safanda JF, Fall MZ, Quince C, Lang KA, Hull CE, Carpenter I, Staley LW, Hagerman RJ.
    JAMA; 1994 Feb 16; 271(7):507-14. PubMed ID: 8301764
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  • 20. Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome.
    Lugenbeel KA, Peier AM, Carson NL, Chudley AE, Nelson DL.
    Nat Genet; 1995 Aug 16; 10(4):483-5. PubMed ID: 7670500
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