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Journal Abstract Search

1098 related items for PubMed ID: 15135801

  • 1. Fragile X mental retardation syndrome: from pathogenesis to diagnostic issues.
    Mandel JL, Biancalana V.
    Growth Horm IGF Res; 2004 Jun; 14 Suppl A():S158-65. PubMed ID: 15135801
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  • 3. Assessment of a clinical checklist in the diagnosis of fragile X syndrome in India.
    Guruju MR, Lavanya K, Thelma BK, Sujatha M, OmSai VR, Nagarathna V, Amarjyothi P, Jyothi A, Anandaraj MP.
    J Clin Neurosci; 2009 Oct; 16(10):1305-10. PubMed ID: 19560928
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  • 4. [Diagnosis of fragile X syndrome].
    Glover G, Bernabé MJ, Carbonell P.
    Rev Neurol; 2001 Oct; 33 Suppl 1():S6-9. PubMed ID: 12447811
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  • 7. Segregation of the fragile X mutation from a male with a full mutation: unusual somatic instability in the FMR-1 locus.
    Kambouris M, Snow K, Thibodeau S, Bluhm D, Green M, Feldman GL.
    Am J Med Genet; 1996 Aug 09; 64(2):404-7. PubMed ID: 8844092
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  • 8. Preimplantation diagnosis for fragile X syndrome based on the detection of the non-expanded paternal and maternal CGG.
    Sermon K, Seneca S, Vanderfaeillie A, Lissens W, Joris H, Vandervorst M, Van Steirteghem A, Liebaers I.
    Prenat Diagn; 1999 Dec 09; 19(13):1223-30. PubMed ID: 10660959
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  • 9. [From gene to disease; fragile X-syndrome: hereditary mental retardation due to a developmental gene].
    de Vries LB, Oostra BA.
    Ned Tijdschr Geneeskd; 2001 Mar 10; 145(10):474-6. PubMed ID: 11268909
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  • 10. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.
    Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boué J, Tommerup N, Van Der Hagen C, DeLozier-Blanchet C, Croquette MF.
    N Engl J Med; 1991 Dec 12; 325(24):1673-81. PubMed ID: 1944467
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  • 12. 10 years' experience in fragile X testing among mentally retarded individuals in Greece: a molecular and epidemiological approach.
    Sofocleous C, Kitsiou S, Fryssira H, Kolialexi A, Kalaitzidaki M, Roma E, Tsangaris GT, Chistofidou C, Metaxotou C, Kanavakis E, Mavrou A.
    In Vivo; 2008 Dec 12; 22(4):451-5. PubMed ID: 18712171
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  • 13. The influence of expanded unmethylated alleles for FRAXA/FRAXE loci in the intellectual performance among Brazilian mentally impaired males.
    Barros Santos C, Gonçalves Pimentel MM.
    Int J Mol Med; 2003 Sep 12; 12(3):385-9. PubMed ID: 12883656
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  • 14. [The diagnosis of mental retardation in fragile X syndrome is revolutionized by molecular genetics].
    Lemire M, Rousseau F.
    Union Med Can; 1993 Sep 12; 122(1):23-9. PubMed ID: 8465472
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  • 15. The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy.
    Moore CJ, Daly EM, Tassone F, Tysoe C, Schmitz N, Ng V, Chitnis X, McGuire P, Suckling J, Davies KE, Hagerman RJ, Hagerman PJ, Murphy KC, Murphy DG.
    Brain; 2004 Dec 12; 127(Pt 12):2672-81. PubMed ID: 15483045
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  • 16. Fragile X mental retardation syndrome: DNA diagnosis and carrier detection in New Zealand families.
    Neville L, Cochrane J, Fitzgerald P, Kennedy M.
    N Z Med J; 1995 Oct 13; 108(1009):404-6. PubMed ID: 7478333
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  • 18. A methylation PCR approach for detection of fragile X syndrome.
    Panagopoulos I, Lassen C, Kristoffersson U, Aman P.
    Hum Mutat; 1999 Oct 13; 14(1):71-9. PubMed ID: 10447261
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