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Journal Abstract Search

252 related items for PubMed ID: 16378923

  • 1. 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; 48(4):388-96. PubMed ID: 16378923
    [Abstract] [Full Text] [Related]

  • 2. 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; 51(5):453-9. PubMed ID: 20112600
    [Abstract] [Full Text] [Related]

  • 3. 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; 16(2):129-38. PubMed ID: 16080292
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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; 10(4):CR143-51. PubMed ID: 15039644
    [Abstract] [Full Text] [Related]

  • 6. [Multiplex ligation-dependent probe amplification analysis of subtelomeric chromosome rearrangements in children with idiopathic mental retardation].
    Li MR, Wang XZ, Yang YL, Zhang YH, Xiong H, Bao XH, Zhong N, Wu XR, Pan H.
    Zhonghua Yi Xue Za Zhi; 2009 Nov 03; 89(40):2839-42. PubMed ID: 20137665
    [Abstract] [Full Text] [Related]

  • 7. Subtelomeric chromosome rearrangements in children with idiopathic mental retardation: applicability of three molecular-cytogenetic methods.
    Erjavec-Skerget A, Stangler-Herodez S, Zagorac A, Zagradisnik B, Kokalj-Vokac N.
    Croat Med J; 2006 Dec 03; 47(6):841-50. PubMed ID: 17167856
    [Abstract] [Full Text] [Related]

  • 8. 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 03; 69(1):58-64. PubMed ID: 16451137
    [Abstract] [Full Text] [Related]

  • 9. 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 03; 41(12):892-9. PubMed ID: 15591274
    [Abstract] [Full Text] [Related]

  • 10. Six cases of cryptic subtelomeric translocations in four families: the use of subtelomeric FISH probes as a diagnostic tool.
    Paoloni-Giacobino A, Dahoun S, Briault S, Chalumeau A, Till M, Morraine C, Lespinasse J.
    Genet Couns; 2006 Dec 03; 17(1):15-28. PubMed ID: 16719273
    [Abstract] [Full Text] [Related]

  • 11. Chromosomal rearrangements in children with idiopathic mental retardation using subtelomeric fluorescent in situ hybridization.
    Cogulu O, Gunduz C, Karaca E, Onay H, Ozkinay C, Ozkinay F.
    Genet Couns; 2006 Dec 03; 17(3):321-31. PubMed ID: 17100201
    [Abstract] [Full Text] [Related]

  • 12. Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres.
    Slavotinek A, Rosenberg M, Knight S, Gaunt L, Fergusson W, Killoran C, Clayton-Smith J, Kingston H, Campbell RH, Flint J, Donnai D, Biesecker L.
    J Med Genet; 1999 May 03; 36(5):405-11. PubMed ID: 10353788
    [Abstract] [Full Text] [Related]

  • 13. 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 03; 109(4):440-51. PubMed ID: 11702226
    [Abstract] [Full Text] [Related]

  • 14. Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients.
    Utine GE, Celik T, Alanay Y, Alikaşifoğlu M, Boduroğlu K, Tunçbilek E, Aktaş D.
    Turk J Pediatr; 2009 Oct 03; 51(3):199-206. PubMed ID: 19817261
    [Abstract] [Full Text] [Related]

  • 15. 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 03; 51(2):93-105. PubMed ID: 18032123
    [Abstract] [Full Text] [Related]

  • 16. MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation.
    Palomares M, Delicado A, Lapunzina P, Arjona D, Amiñoso C, Arcas J, Martinez Bermejo A, Fernández L, López Pajares I.
    Clin Genet; 2006 Mar 03; 69(3):228-33. PubMed ID: 16542387
    [Abstract] [Full Text] [Related]

  • 17. [Detection of subtelomeric rearrangements in patients with idiopathic mental retardation/developmental delay].
    Wu Y, Jiang YW, Wang XZ, Wang HF, Wang JM, Yang YL, Qin J, Zhong N, Wu XR.
    Zhonghua Er Ke Za Zhi; 2007 Dec 03; 45(12):906-11. PubMed ID: 18339278
    [Abstract] [Full Text] [Related]

  • 18. Clinical and cytogenetic manifestations of subtelomeric aberrations: Report of six cases.
    Font-Montgomery E, Weaver DD, Walsh L, Christensen C, Thurston VC.
    Birth Defects Res A Clin Mol Teratol; 2004 Jun 03; 70(6):408-15. PubMed ID: 15211711
    [Abstract] [Full Text] [Related]

  • 19. Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay.
    Sismani C, Armour JA, Flint J, Girgalli C, Regan R, Patsalis PC.
    Eur J Hum Genet; 2001 Jul 03; 9(7):527-32. PubMed ID: 11464244
    [Abstract] [Full Text] [Related]

  • 20. Screening for subtelomeric rearrangements using automated fluorescent genotyping of microsatellite markers: a Lebanese study.
    Delague V, Souaid M, Chouery E, Depetris D, Sanlaville D, Mattei MG, Mégarbané A.
    Eur J Med Genet; 2006 Jul 03; 49(2):117-26. PubMed ID: 16530708
    [Abstract] [Full Text] [Related]

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