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Journal Abstract Search

339 related items for PubMed ID: 11702209

  • 1. Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes.
    Riegel M, Baumer A, Jamar M, Delbecque K, Herens C, Verloes A, Schinzel A.
    Hum Genet; 2001 Sep; 109(3):286-94. PubMed ID: 11702209
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  • 2. Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.
    Caliskan MO, Karauzum SB, Mihci E, Tacoy S, Luleci G.
    Genet Couns; 2005 Sep; 16(2):129-38. PubMed ID: 16080292
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  • 3. Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).
    Koolen DA, Nillesen WM, Versteeg MH, Merkx GF, Knoers NV, Kets M, Vermeer S, van Ravenswaaij CM, de Kovel CG, Brunner HG, Smeets D, de Vries BB, Sistermans EA.
    J Med Genet; 2004 Dec; 41(12):892-9. PubMed ID: 15591274
    [Abstract] [Full Text] [Related]

  • 4. FISH screening for subtelomeric rearrangements in 219 patients with idiopathic mental retardation and normal karyotype.
    Baroncini A, Rivieri F, Capucci A, Croci G, Franchi F, Sensi A, Battaglia P, Aiello V, Calzolari E.
    Eur J Med Genet; 2005 Dec; 48(4):388-96. PubMed ID: 16378923
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  • 5. Subtelomeric rearrangements of dysmorphic children with idiopathic mental retardation reveal 8 different chromosomal anomalies.
    Mihçi E, Ozcan M, Berker-Karaüzüm S, Keser I, Taçoy S, Hapsolat S, Lüleci G.
    Turk J Pediatr; 2009 Dec; 51(5):453-9. PubMed ID: 20112600
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  • 7. Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH.
    Joyce CA, Dennis NR, Cooper S, Browne CE.
    Hum Genet; 2001 Oct; 109(4):440-51. PubMed ID: 11702226
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  • 9. Prospective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangements.
    Stegmann AP, Jonker LM, Engelen JJ.
    Eur J Med Genet; 2008 Oct; 51(2):93-105. PubMed ID: 18032123
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  • 10. Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics.
    Rooms L, Reyniers E, Wuyts W, Storm K, van Luijk R, Scheers S, Wauters J, van den Ende J, Biervliet M, Eyskens F, van Goethem G, Laridon A, Ceulemans B, Courtens W, Kooy RF.
    Clin Genet; 2006 Jan; 69(1):58-64. PubMed ID: 16451137
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  • 11. Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH.
    Roos A, Rudnik-Schöneborn S, Eggermann K, Eggermann T, Senderek J, Schwanitz G, Zerres K, Schüler HM.
    Eur J Med Genet; 2006 Jan; 49(6):505-10. PubMed ID: 16905374
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  • 13. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.
    Zollino M, Murdolo M, Marangi G, Pecile V, Galasso C, Mazzanti L, Neri G.
    Am J Med Genet C Semin Med Genet; 2008 Nov 15; 148C(4):257-69. PubMed ID: 18932124
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  • 14. Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.
    Bartholdi D, Toelle SP, Steiner B, Boltshauser E, Schinzel A, Riegel M.
    Eur J Med Genet; 2008 Nov 15; 51(2):113-23. PubMed ID: 18262484
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  • 15. [Detection of the genetic abnormalities in patients with mental retardation using multiplex ligation-dependent probe amplification assay].
    Zhu L, Wang C, Yang X, Wang Y, Liu X, He X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Dec 15; 26(6):644-7. PubMed ID: 19953486
    [Abstract] [Full Text] [Related]

  • 16. Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations.
    Le Caignec C, Boceno M, Saugier-Veber P, Jacquemont S, Joubert M, David A, Frebourg T, Rival JM.
    J Med Genet; 2005 Feb 15; 42(2):121-8. PubMed ID: 15689449
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  • 17. Pure subtelomeric microduplications as a cause of mental retardation.
    Ruiter EM, Koolen DA, Kleefstra T, Nillesen WM, Pfundt R, de Leeuw N, Hamel BC, Brunner HG, Sistermans EA, de Vries BB.
    Clin Genet; 2007 Oct 15; 72(4):362-8. PubMed ID: 17850634
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  • 18. Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardation.
    Bocian E, Hélias-Rodzewicz Z, Suchenek K, Obersztyn E, Kutkowska-Kaźmierczak A, Stankiewicz P, Kostyk E, Mazurczak T.
    Med Sci Monit; 2004 Apr 15; 10(4):CR143-51. PubMed ID: 15039644
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  • 20. Subtelomeric chromosome aberrations: still a lot to learn.
    Moog U, Arens YH, van Lent-Albrechts JC, Huijts PE, Smeets EE, Schrander-Stumpel CT, Engelen JJ.
    Clin Genet; 2005 Nov 15; 68(5):397-407. PubMed ID: 16207207
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