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Journal Abstract Search

151 related items for PubMed ID: 17949295

  • 21. Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements.
    Monfort S, Orellana C, Oltra S, Roselló M, Guitart M, Martínez F.
    J Lab Clin Med; 2006 Jun; 147(6):295-300. PubMed ID: 16750667
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  • 24. Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay.
    Northrop EL, Ren H, Bruno DL, McGhie JD, Coffa J, Schouten J, Choo KH, Slater HR.
    Hum Mutat; 2005 Nov; 26(5):477-86. PubMed ID: 16170807
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  • 25. Genotype-phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams-Beuren syndrome.
    Ghaffari M, Tahmasebi Birgani M, Kariminejad R, Saberi A.
    Ann Hum Genet; 2018 Nov; 82(6):469-476. PubMed ID: 30155880
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  • 27. [Williams syndrome: new insights into genetic etiology, pathogenesis and clinical aspects].
    van Hagen JM, Govaerts LC, de Coo IF, Gille JJ, Nieuwint AW, Madan K.
    Ned Tijdschr Geneeskd; 2001 Mar 03; 145(9):396-400. PubMed ID: 11253493
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  • 28. Microdeletion oe chromosomal region 7Q11.23 in Williams syndrome.
    Hou JW, Wang JK, Wang TR.
    J Formos Med Assoc; 1997 Feb 03; 96(2):137-40. PubMed ID: 9071842
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  • 29. Multiplex ligation-dependent probe amplification equals fluorescence in-situ hybridization for the identification of patients at risk for metastatic disease in uveal melanoma.
    Vaarwater J, van den Bosch T, Mensink HW, van Kempen C, Verdijk RM, Naus NC, Paridaens D, Brüggenwirth HT, Kiliç E, de Klein A.
    Melanoma Res; 2012 Feb 03; 22(1):30-7. PubMed ID: 22157614
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  • 30. Autism and Williams syndrome: a case report.
    Herguner S, Mukaddes NM.
    World J Biol Psychiatry; 2006 Feb 03; 7(3):186-8. PubMed ID: 16861145
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  • 31. [Genetic and prenatal diagnosis for four families with Williams-Beuren syndrome].
    Liu Y, Xu ZY, Wu WQ, Luo FW, Xie JS.
    Zhongguo Dang Dai Er Ke Za Zhi; 2015 Dec 03; 17(12):1267-72. PubMed ID: 26695662
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  • 35. Williams syndrome and the elastin gene in Thai patients.
    Ruangdaraganon N, Tocharoentanaphol C, Kotchabhakdi N, Khowsathit P.
    J Med Assoc Thai; 1999 Nov 03; 82 Suppl 1():S174-8. PubMed ID: 10730539
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  • 37. [Evaluation of detection and analysis of chromosome 22q11.2 microdeletion by multiple ligation-dependent probe amplification assay].
    DENG JY, ZHANG ZW, LI JH, ZHU YN, YANG JB, GAO Z, YING LY.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Apr 03; 28(2):190-4. PubMed ID: 21462133
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  • 38. [Clinical characterization, molecular and FISH studies in 80 patients with clinical suspicion of Williams-Beuren syndrome].
    Milà M, Carrió A, Sánchez A, Gómez D, Jiménez D, Estivill X, Ballesta F.
    Med Clin (Barc); 1999 Jun 19; 113(2):46-9. PubMed ID: 10425618
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  • 39. Multiplex ligation-dependent probe amplification versus multiprobe fluorescence in situ hybridization to detect genomic aberrations in chronic lymphocytic leukemia: a tertiary center experience.
    Al Zaabi EA, Fernandez LA, Sadek IA, Riddell DC, Greer WL.
    J Mol Diagn; 2010 Mar 19; 12(2):197-203. PubMed ID: 20093390
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  • 40. Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome.
    Brewer CM, Morrison N, Tolmie JL.
    Arch Dis Child; 1996 Jan 19; 74(1):59-61. PubMed ID: 8660051
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