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Journal Abstract Search

228 related items for PubMed ID: 16207207

  • 21. High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: ring chromosome 19 and partial duplication 2q.
    Hermsen MA, Tijssen M, Acero IH, Meijer GA, Ylstra B, Toral JF.
    Eur J Med Genet; 2005; 48(3):310-8. PubMed ID: 16179226
    [Abstract] [Full Text] [Related]

  • 22.
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  • 23. Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes.
    Bacino CA, Kashork CD, Davino NA, Shaffer LG.
    Am J Med Genet; 2000 Jun 05; 92(4):250-5. PubMed ID: 10842290
    [Abstract] [Full Text] [Related]

  • 24. 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 Jun 05; 51(3):199-206. PubMed ID: 19817261
    [Abstract] [Full Text] [Related]

  • 25. Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms.
    Sutton VR, Coveler KJ, Lalani SR, Kashork CD, Shaffer LG.
    Am J Med Genet; 2002 Sep 15; 112(1):23-7. PubMed ID: 12239715
    [Abstract] [Full Text] [Related]

  • 26. Subtelomeric rearrangements in the mentally retarded: a comparison of detection methods.
    Rooms L, Reyniers E, Kooy RF.
    Hum Mutat; 2005 Jun 15; 25(6):513-24. PubMed ID: 15880643
    [Abstract] [Full Text] [Related]

  • 27. High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism.
    Novelli A, Ceccarini C, Bernardini L, Zuccarello D, Caputo V, Digilio MC, Mingarelli R, Dallapiccola B.
    Clin Genet; 2004 Jul 15; 66(1):30-8. PubMed ID: 15200505
    [Abstract] [Full Text] [Related]

  • 28. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation.
    Flint J, Wilkie AO, Buckle VJ, Winter RM, Holland AJ, McDermid HE.
    Nat Genet; 1995 Feb 15; 9(2):132-40. PubMed ID: 7719339
    [Abstract] [Full Text] [Related]

  • 29. 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 15; 9(7):527-32. PubMed ID: 11464244
    [Abstract] [Full Text] [Related]

  • 30. 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 Jul 15; 17(3):321-31. PubMed ID: 17100201
    [Abstract] [Full Text] [Related]

  • 31. Diverse chromosome breakage mechanisms underlie subtelomeric rearrangements, a common cause of mental retardation.
    Rooms L, Reyniers E, Kooy RF.
    Hum Mutat; 2007 Feb 15; 28(2):177-82. PubMed ID: 16991117
    [Abstract] [Full Text] [Related]

  • 32. 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 Feb 15; 17(1):15-28. PubMed ID: 16719273
    [Abstract] [Full Text] [Related]

  • 33. 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 15; 47(6):841-50. PubMed ID: 17167856
    [Abstract] [Full Text] [Related]

  • 34. 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 Dec 15; 49(6):505-10. PubMed ID: 16905374
    [Abstract] [Full Text] [Related]

  • 35. Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye.
    Boehm D, Herold S, Kuechler A, Liehr T, Laccone F.
    Hum Mutat; 2004 Apr 15; 23(4):368-78. PubMed ID: 15024731
    [Abstract] [Full Text] [Related]

  • 36. Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation.
    Engels H, Ehrbrecht A, Zahn S, Bosse K, Vrolijk H, White S, Kalscheuer V, Hoovers JM, Schwanitz G, Propping P, Tanke HJ, Wiegant J, Raap AK.
    Eur J Hum Genet; 2003 Sep 15; 11(9):643-51. PubMed ID: 12939649
    [Abstract] [Full Text] [Related]

  • 37. A familial complex chromosome translocation resulting in duplication of 6p25.
    Vermeesch JR, Thoelen R, Fryns JP.
    Ann Genet; 2004 Sep 15; 47(3):275-80. PubMed ID: 15337473
    [Abstract] [Full Text] [Related]

  • 38. Genotype-phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the 'association des Cytogénéticiens de langue Française'.
    Béri-Deixheimer M, Gregoire MJ, Toutain A, Brochet K, Briault S, Schaff JL, Leheup B, Jonveaux P.
    Eur J Hum Genet; 2007 Apr 15; 15(4):446-52. PubMed ID: 17290276
    [Abstract] [Full Text] [Related]

  • 39. [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]

  • 40. 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]

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