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Journal Abstract Search

243 related items for PubMed ID: 16750667

  • 21.
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  • 23. [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; 26(6):644-7. PubMed ID: 19953486
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  • 24. 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; 72(4):362-8. PubMed ID: 17850634
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  • 25. 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
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  • 28. 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 Jun 05; 17(3):321-31. PubMed ID: 17100201
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  • 29. [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 05; 45(12):906-11. PubMed ID: 18339278
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  • 30. Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3.
    Delahaye A, Toutain A, Aboura A, Dupont C, Tabet AC, Benzacken B, Elion J, Verloes A, Pipiras E, Drunat S.
    Eur J Med Genet; 2009 Dec 05; 52(5):328-32. PubMed ID: 19454329
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  • 34. [MLPA technique--principles and use in practice].
    Rusu C, Sireteanu A, Puiu M, Skrypnyk C, Tomescu E, Csep K, Creţ V, Barbarii L.
    Rev Med Chir Soc Med Nat Iasi; 2007 Dec 05; 111(4):1001-4. PubMed ID: 18389795
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  • 35. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.
    Kirchhoff M, Bisgaard AM, Bryndorf T, Gerdes T.
    Eur J Med Genet; 2007 Dec 05; 50(1):33-42. PubMed ID: 17090394
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  • 36. 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 Dec 05; 48(4):388-96. PubMed ID: 16378923
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  • 37. Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients.
    Zeng F, Ren ZR, Huang SZ, Kalf M, Mommersteeg M, Smit M, White S, Jin CL, Xu M, Zhou DW, Yan JB, Chen MJ, van Beuningen R, Huang SZ, den Dunnen J, Zeng YT, Wu Y.
    Hum Mutat; 2008 Jan 05; 29(1):190-7. PubMed ID: 17854090
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  • 38. Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes.
    Monfort S, Roselló M, Orellana C, Oltra S, Blesa D, Kok K, Ferrer I, Cigudosa JC, Martínez F.
    J Med Genet; 2008 Jul 05; 45(7):432-7. PubMed ID: 18413373
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  • 39. 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 05; 9(2):132-40. PubMed ID: 7719339
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  • 40. 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 05; 66(2):122-7. PubMed ID: 15253762
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