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Journal Abstract Search

220 related items for PubMed ID: 20112600

  • 1. 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]

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

  • 3. 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]

  • 4. 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
    [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. 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]

  • 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; 47(6):841-50. PubMed ID: 17167856
    [Abstract] [Full Text] [Related]

  • 8. 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; 69(3):228-33. PubMed ID: 16542387
    [Abstract] [Full Text] [Related]

  • 9. Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay.
    Popp S, Schulze B, Granzow M, Keller M, Holtgreve-Grez H, Schoell B, Brough M, Hager HD, Tariverdian G, Brown J, Kearney L, Jauch A.
    Hum Genet; 2002 Jul; 111(1):31-9. PubMed ID: 12136233
    [Abstract] [Full Text] [Related]

  • 10. 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; 36(5):405-11. PubMed ID: 10353788
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. 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 Oct; 17(3):321-31. PubMed ID: 17100201
    [Abstract] [Full Text] [Related]

  • 14. 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; 9(7):527-32. PubMed ID: 11464244
    [Abstract] [Full Text] [Related]

  • 15. [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]

  • 16. 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 03; 72(4):362-8. PubMed ID: 17850634
    [Abstract] [Full Text] [Related]

  • 17. 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 03; 68(5):397-407. PubMed ID: 16207207
    [Abstract] [Full Text] [Related]

  • 18. 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 Nov 03; 49(6):505-10. PubMed ID: 16905374
    [Abstract] [Full Text] [Related]

  • 19. Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA).
    Rooms L, Reyniers E, van Luijk R, Scheers S, Wauters J, Ceulemans B, Van Den Ende J, Van Bever Y, Kooy RF.
    Hum Mutat; 2004 Jan 03; 23(1):17-21. PubMed ID: 14695528
    [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 Jan 03; 49(2):117-26. PubMed ID: 16530708
    [Abstract] [Full Text] [Related]

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