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Journal Abstract Search

143 related items for PubMed ID: 11134241

  • 1. Mosaic terminal del(19)(q13.33:) in a girl with seizures and mental retardation.
    Mikelsaar RV, Varb K, Süvari A, Schinzel A.
    J Med Genet; 2001 Jan; 38(1):E2. PubMed ID: 11134241
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  • 2. First report of an interstitial deletion, del(5)(q33.1q35.1) in a girl with primary amenorrhea, seizures, and severe behavioral and developmental deficiencies.
    Northup JK, Wain KE, Hawkins JC, Matalon R, Velagaleti GV.
    Am J Med Genet A; 2008 Oct 01; 146A(19):2578-82. PubMed ID: 18792973
    [No Abstract] [Full Text] [Related]

  • 3. The 11q- syndrome with mosaic partial deletion of 11q.
    Ishida Y, Watanabe N, Ishihara Y, Matsuda H.
    Acta Paediatr Jpn; 1992 Dec 01; 34(6):592-6. PubMed ID: 1285504
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  • 4. Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.
    Chabchoub E, Rodríguez L, Galán E, Mansilla E, Martínez-Fernandez ML, Martínez-Frías ML, Fryns JP, Vermeesch JR.
    J Med Genet; 2007 Apr 01; 44(4):250-6. PubMed ID: 17172463
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  • 5. Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10].
    Sauter S, von Beust G, Burfeind P, Weise A, Starke H, Liehr T, Zoll B.
    Am J Med Genet A; 2003 Aug 01; 120A(4):533-6. PubMed ID: 12884434
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  • 6. Ring chromosome 20 with loss of telomeric sequences detected by multicolour PRINS.
    Brandt CA, Kierkegaard O, Hindkjaer J, Jensen PK, Pedersen S, Therkelsen AJ.
    Clin Genet; 1993 Jul 01; 44(1):26-31. PubMed ID: 8403451
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  • 8. Mixed sclerosing bone dysplasia, small stature, seizure disorder, and mental retardation: a syndrome?
    Jurenka SB, Van Allen MI.
    Am J Med Genet; 1995 May 22; 57(1):6-9. PubMed ID: 7645600
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  • 10. Pure interstitial duplication of chromosome 7q (7q31.2-->q33) in a 4-year-old girl with growth restriction, short stature, speech delay and intellectual disability.
    Chen CP, Lin SP, Chern SR, Tsai FJ, Lee MS, Chen YJ, Wang W.
    Genet Couns; 2011 May 22; 22(4):425-30. PubMed ID: 22303804
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  • 18. Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation.
    Manolakos E, Vetro A, Kefalas K, Thomaidis L, Aperis G, Sotiriou S, Kitsos G, Merkas M, Sifakis S, Papoulidis I, Liehr T, Zuffardi O, Petersen MB.
    Am J Med Genet A; 2011 Jun 22; 155A(6):1476-82. PubMed ID: 21567918
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