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Journal Abstract Search

427 related items for PubMed ID: 22876589

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  • 4. Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter.
    Sogaard M, Tümer Z, Hjalgrim H, Hahnemann J, Friis B, Ledaal P, Pedersen VF, Baekgaard P, Tommerup N, Cingöz S, Duno M, Brondum-Nielsen K.
    BMC Med Genet; 2005 May 17; 6():21. PubMed ID: 15904506
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  • 7. Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation.
    de Ravel TJ, Balikova I, Thienpont B, Hannes F, Maas N, Fryns JP, Devriendt K, Vermeesch JR.
    Cytogenet Genome Res; 2006 May 17; 115(3-4):225-30. PubMed ID: 17124404
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  • 9. Use of fluorescence in situ hybridization to clarify a complex chromosomal rearrangement in a child with multiple congenital anomalies.
    Spikes AS, Hegmann K, Smith JL, Shaffer LG.
    Am J Med Genet; 1995 May 22; 57(1):31-4. PubMed ID: 7645595
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  • 11. Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.
    Gijsbers AC, Bosch CA, Dauwerse JG, Giromus O, Hansson K, Hilhorst-Hofstee Y, Kriek M, van Haeringen A, Bijlsma EK, Bakker E, Breuning MH, Ruivenkamp CA.
    Eur J Med Genet; 2010 May 22; 53(5):227-33. PubMed ID: 20542150
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  • 12. Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays.
    Ming JE, Geiger E, James AC, Ciprero KL, Nimmakayalu M, Zhang Y, Huang A, Vaddi M, Rappaport E, Zackai EH, Shaikh TH.
    Hum Mutat; 2006 May 22; 27(5):467-73. PubMed ID: 16619270
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  • 14. [Fluorescence in situ hybridization in 6 patients with alterations of chromosome 18 and in 7 with marker chromosomes].
    Esmer MC, Carnevale A, Gómez L, del Castillo V, Frías S.
    Rev Invest Clin; 1996 May 22; 48(1):27-33. PubMed ID: 8815483
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  • 15. Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause.
    Coco R, Penchaszadeh VB.
    Am J Med Genet; 1982 Jun 22; 12(2):155-73. PubMed ID: 7102722
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  • 16. Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome.
    Kurosawa K, Kawame H, Okamoto N, Ochiai Y, Akatsuka A, Kobayashi M, Shimohira M, Mizuno S, Wada K, Fukushima Y, Kawawaki H, Yamamoto T, Masuno M, Imaizumi K, Kuroki Y.
    Brain Dev; 2005 Aug 22; 27(5):378-82. PubMed ID: 16023556
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  • 17. [Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine patients with intellectual disability, dysmorphic features and congenital abnormalities].
    Borg K, Bocian E, Stankiewicz P, Obersztyn E, Kruczek A, Nowakowska B, Ilnicka A, Mazurczak T.
    Med Wieku Rozwoj; 2006 Aug 22; 10(1 Pt 2):227-46. PubMed ID: 17028391
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  • 18. Chromosomal changes detected by fluorescence in situ hybridization in patients with acute lymphoblastic leukemia.
    Zhang L, Parkhurst JB, Kern WF, Scott KV, Niccum D, Mulvihill JJ, Li S.
    Chin Med J (Engl); 2003 Sep 22; 116(9):1298-303. PubMed ID: 14527352
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  • 19. Array-based comparative genome hybridization in clinical genetics.
    Bar-Shira A, Rosner G, Rosner S, Goldstein M, Orr-Urtreger A.
    Pediatr Res; 2006 Sep 22; 60(3):353-8. PubMed ID: 16857771
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  • 20. A 5q12.1-5q12.3 microdeletion in a case with a balanced exceptional complex chromosomal rearrangement.
    Cetin Z, Yakut S, Clark OA, Mihci E, Berker S, Luleci G.
    Gene; 2013 Mar 01; 516(1):176-80. PubMed ID: 23262338
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