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Journal Abstract Search

151 related items for PubMed ID: 17949295

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  • 2. [Detection of a Williams Beuren syndrome case by MLPA].
    Laurito S, Branham T, Herrero G, Marsa S, Garro F, Roqué M.
    Medicina (B Aires); 2013; 73(1):47-50. PubMed ID: 23335707
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  • 3. Comparing two diagnostic laboratory tests for several microdeletions causing mental retardation syndromes: multiplex ligation-dependent amplification vs fluorescent in situ hybridization.
    Cho EH, Park BY, Cho JH, Kang YS.
    Korean J Lab Med; 2009 Feb; 29(1):71-6. PubMed ID: 19262082
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  • 4. Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome.
    Fernández L, Lapunzina P, Arjona D, López Pajares I, García-Guereta L, Elorza D, Burgueros M, De Torres ML, Mori MA, Palomares M, García-Alix A, Delicado A.
    Clin Genet; 2005 Oct; 68(4):373-8. PubMed ID: 16143025
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  • 5. Prenatal diagnosis of a fetus with 7q11.23 deletion detected by multiplex ligation-dependent probe amplification (MLPA) screening.
    Kontos H, Manolakos E, Malligiannis P, Plachouras N, Ploumis N, Mihalatos M, Orru S, Anastasiadou E, Petersen MB.
    Prenat Diagn; 2008 Jun; 28(6):556-8. PubMed ID: 18509863
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  • 8. [Genotype and phenotype analysis of two patients with Williams syndrome].
    Zhu H, Ji C, Zhang H.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Feb; 33(1):68-70. PubMed ID: 26829738
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  • 10. Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.
    Honjo RS, Dutra RL, Furusawa EA, Zanardo EA, Costa LS, Kulikowski LD, Bertola DR, Kim CA.
    Biomed Res Int; 2015 Feb; 2015():903175. PubMed ID: 26090456
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  • 14. Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India.
    Sharma P, Gupta N, Chowdhury MR, Phadke SR, Sapra S, Halder A, Ghosh M, Kabra M.
    Cytogenet Genome Res; 2015 Feb; 146(3):187-94. PubMed ID: 26352091
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  • 15. Molecular cytogenetic diagnosis of Williams syndrome.
    Hirota H, Matsuoka R, Kimura M, Imamura S, Joh-o K, Ando M, Takao A, Momma K.
    Am J Med Genet; 1996 Aug 23; 64(3):473-7. PubMed ID: 8862624
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  • 19. GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.
    Morris CA, Mervis CB, Hobart HH, Gregg RG, Bertrand J, Ensing GJ, Sommer A, Moore CA, Hopkin RJ, Spallone PA, Keating MT, Osborne L, Kimberley KW, Stock AD.
    Am J Med Genet A; 2003 Nov 15; 123A(1):45-59. PubMed ID: 14556246
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