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Journal Abstract Search

174 related items for PubMed ID: 16530708

  • 1. 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; 49(2):117-26. PubMed ID: 16530708
    [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. 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]

  • 4. 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]

  • 5. A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review.
    Courtens W, Wauters J, Wojciechowski M, Reyniers E, Scheers S, van Luijk R, Rooms L, Kooy F, Wuyts W.
    Clin Dysmorphol; 2007 Oct; 16(4):231-9. PubMed ID: 17786114
    [Abstract] [Full Text] [Related]

  • 6. Screening for subtelomeric rearrangements using genetic markers in 70 patients with unexplained mental retardation.
    Rooms L, Reyniers E, van Luijk R, Scheers S, Wauters J, Kooy RF.
    Ann Genet; 2004 Oct; 47(1):53-9. PubMed ID: 15050874
    [Abstract] [Full Text] [Related]

  • 7. Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation.
    Borck G, Rio M, Sanlaville D, Redon R, Molinari F, Bacq D, Raoul O, Cormier-Daire V, Lyonnet S, Amiel J, Le Merrer M, de Blois MC, Prieur M, Vekemans M, Carter NP, Munnich A, Colleaux L.
    Clin Genet; 2004 Aug; 66(2):122-7. PubMed ID: 15253762
    [Abstract] [Full Text] [Related]

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

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

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

  • 11. 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]

  • 12. 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]

  • 13. A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.
    Colleaux L, Rio M, Heuertz S, Moindrault S, Turleau C, Ozilou C, Gosset P, Raoult O, Lyonnet S, Cormier-Daire V, Amiel J, Le Merrer M, Picq M, de Blois MC, Prieur M, Romana S, Cornelis F, Vekemans M, Munnich A.
    Eur J Hum Genet; 2001 May; 9(5):319-27. PubMed ID: 11378819
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. 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 15; 41(12):892-9. PubMed ID: 15591274
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 109(3):286-94. PubMed ID: 11702209
    [Abstract] [Full Text] [Related]

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

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  • 19. 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 15; 69(1):58-64. PubMed ID: 16451137
    [Abstract] [Full Text] [Related]

  • 20. Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements.
    Monfort S, Orellana C, Oltra S, Roselló M, Guitart M, Martínez F.
    J Lab Clin Med; 2006 Jun 15; 147(6):295-300. PubMed ID: 16750667
    [Abstract] [Full Text] [Related]

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