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Journal Abstract Search

274 related items for PubMed ID: 18339278

  • 21. [Chromosome subtelomeric analysis by FISH in patients with mental retardation].
    Li R, Zhao ZY, Pai S.
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2004 Jul; 33(4):349-52. PubMed ID: 15269989
    [Abstract] [Full Text] [Related]

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

  • 23. Detecting rearrangements in children using subtelomeric FISH and SKY.
    Clarkson B, Pavenski K, Dupuis L, Kennedy S, Meyn S, Nezarati MM, Nie G, Weksberg R, Withers S, Quercia N, Teebi AS, Teshima I.
    Am J Med Genet; 2002 Feb 01; 107(4):267-74. PubMed ID: 11840482
    [Abstract] [Full Text] [Related]

  • 24. 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 Feb 01; 17(3):321-31. PubMed ID: 17100201
    [Abstract] [Full Text] [Related]

  • 25.
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  • 26. Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation.
    Wu Y, Ji T, Wang J, Xiao J, Wang H, Li J, Gao Z, Yang Y, Cai B, Wang L, Zhou Z, Tian L, Wang X, Zhong N, Qin J, Wu X, Jiang Y.
    BMC Med Genet; 2010 May 11; 11():72. PubMed ID: 20459802
    [Abstract] [Full Text] [Related]

  • 27.
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  • 28. Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients.
    Jalal SM, Harwood AR, Sekhon GS, Pham Lorentz C, Ketterling RP, Babovic-Vuksanovic D, Meyer RG, Ensenauer R, Anderson MH, Michels VV.
    Genet Med; 2003 May 11; 5(1):28-34. PubMed ID: 12544473
    [Abstract] [Full Text] [Related]

  • 29. Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases.
    Soares AR, Soares G, Mota-Freitas M, Oliva-Teles N, Fortuna AM.
    Acta Med Port; 2019 Aug 01; 32(7-8):529-535. PubMed ID: 31445533
    [Abstract] [Full Text] [Related]

  • 30. Subtelomeric rearrangements in patients with idiopathic intellectual disabilitiy/ multiple congenital anomalies and recurrent miscarriages: seven years' experience.
    Durmaz B, Karaca E, Durmaz A, Atik T, Akin H, Cogulu O, Ozkinay F.
    Genet Couns; 2013 Aug 01; 24(2):167-77. PubMed ID: 24032287
    [Abstract] [Full Text] [Related]

  • 31. Siblings with opposite chromosome constitutions, dup(2q)/del(7q) and del(2q)/dup(7q).
    Shim SH, Shim JS, Min K, Lee HS, Park JE, Park SH, Hwang E, Kim M.
    Gene; 2014 Jan 15; 534(1):100-6. PubMed ID: 24095776
    [Abstract] [Full Text] [Related]

  • 32. 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 15; 69(3):228-33. PubMed ID: 16542387
    [Abstract] [Full Text] [Related]

  • 33. Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience.
    van Karnebeek CD, Koevoets C, Sluijter S, Bijlsma EK, Smeets DF, Redeker EJ, Hennekam RC, Hoovers JM.
    J Med Genet; 2002 Aug 15; 39(8):546-53. PubMed ID: 12161591
    [Abstract] [Full Text] [Related]

  • 34. [Subtelomeric deletion 9qter: definition of the syndrome and parental origin in 2 patients].
    Roselló M, Monfort S, Orellana C, Oltra S, Martínez Garay I, Martínez F.
    Med Clin (Barc); 2007 Mar 24; 128(11):419-21. PubMed ID: 17394858
    [Abstract] [Full Text] [Related]

  • 35. Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33.
    Walter S, Sandig K, Hinkel GK, Mitulla B, Ounap K, Sims G, Sitska M, Utermann B, Viertel P, Kalscheuer V, Bartsch O.
    Am J Med Genet A; 2004 Aug 01; 128A(4):364-73. PubMed ID: 15264281
    [Abstract] [Full Text] [Related]

  • 36. Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: a study in 203 Indian patients.
    Boggula VR, Shukla A, Danda S, Hariharan SV, Nampoothiri S, Kumar R, Phadke SR.
    Indian J Med Res; 2014 Jan 01; 139(1):66-75. PubMed ID: 24604040
    [Abstract] [Full Text] [Related]

  • 37. [Use of MLPA test in the detection of subtelomeric rearrangements--case report].
    Rusu C, Neagu E, Skrypnyk C, Bica V, Voloşciuc M, Bembea M, Sireteanu A, Grămescu M, Ligia B.
    Rev Med Chir Soc Med Nat Iasi; 2009 Jan 01; 113(2):516-22. PubMed ID: 21495359
    [Abstract] [Full Text] [Related]

  • 38. 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 01; 111(1):31-9. PubMed ID: 12136233
    [Abstract] [Full Text] [Related]

  • 39. 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
    [Abstract] [Full Text] [Related]

  • 40. Clinical studies on submicroscopic subtelomeric rearrangements: a checklist.
    de Vries BB, White SM, Knight SJ, Regan R, Homfray T, Young ID, Super M, McKeown C, Splitt M, Quarrell OW, Trainer AH, Niermeijer MF, Malcolm S, Flint J, Hurst JA, Winter RM.
    J Med Genet; 2001 Mar 17; 38(3):145-50. PubMed ID: 11238680
    [Abstract] [Full Text] [Related]

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