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Journal Abstract Search

368 related items for PubMed ID: 22534424

  • 21. 17q21.31 microdeletion: brain anomalies leading to prenatal diagnosis.
    Egloff M, Encha-Razavi F, Garel C, Bonnière-Darcy M, Millischer AE, Lapierre JM, Fontaine S, de Blois MC, Vekemans M, Turleau C, Ville Y, Malan V.
    Cytogenet Genome Res; 2014; 144(3):178-82. PubMed ID: 25402493
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  • 22. De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.
    Stokman MF, Oud MM, van Binsbergen E, Slaats GG, Nicolaou N, Renkema KY, Nijman IJ, Roepman R, Giles RH, Arts HH, Knoers NV, van Haelst MM.
    Am J Med Genet A; 2016 Jun; 170(6):1566-9. PubMed ID: 26892345
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  • 23. A single gene deletion on 4q28.3: PCDH18--a new candidate gene for intellectual disability?
    Kasnauskiene J, Ciuladaite Z, Preiksaitiene E, Matulevičienė A, Alexandrou A, Koumbaris G, Sismani C, Pepalytė I, Patsalis PC, Kučinskas V.
    Eur J Med Genet; 2012 Apr; 55(4):274-7. PubMed ID: 22450339
    [Abstract] [Full Text] [Related]

  • 24. Pure de novo 17q25.3 micro duplication characterized by micro array CGH in a dysmorphic infant with growth retardation, developmental delay and distal arthrogryposis.
    Lukusa T, Fryns JP.
    Genet Couns; 2010 Apr; 21(1):25-34. PubMed ID: 20420026
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  • 26. Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH.
    Kitsiou-Tzeli S, Frysira H, Giannikou K, Syrmou A, Kosma K, Kakourou G, Leze E, Sofocleous C, Kanavakis E, Tzetis M.
    Gene; 2012 Jan 15; 492(1):319-24. PubMed ID: 22037486
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  • 27. A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability.
    Cobben JM, Weiss MM, van Dijk FS, De Reuver R, de Kruiff C, Pondaag W, Hennekam RC, Yntema HG.
    Eur J Med Genet; 2014 Jan 15; 57(11-12):636-8. PubMed ID: 25281490
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  • 28. Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication.
    Margari L, Di Cosola ML, Buttiglione M, Pansini A, Buonadonna AL, Craig F, Cariola F, Petruzzelli MG, Gentile M.
    Am J Med Genet A; 2012 Jul 15; 158A(7):1713-8. PubMed ID: 22639464
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  • 29. 19q13.32 microdeletion syndrome: three new cases.
    Castillo A, Kramer N, Schwartz CE, Miles JH, DuPont BR, Rosenfeld JA, Graham JM.
    Eur J Med Genet; 2014 Jul 15; 57(11-12):654-8. PubMed ID: 25230004
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  • 30. Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1.
    Rajcan-Separovic E, Harvard C, Liu X, McGillivray B, Hall JG, Qiao Y, Hurlburt J, Hildebrand J, Mickelson EC, Holden JJ, Lewis ME.
    J Med Genet; 2007 Apr 15; 44(4):269-76. PubMed ID: 16963482
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  • 31. A further patient with van Maldergem syndrome.
    Neuhann TM, Müller D, Hackmann K, Holzinger S, Schrock E, Di Donato N.
    Eur J Med Genet; 2012 Jun 15; 55(6-7):423-8. PubMed ID: 22469822
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  • 33. Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndrome.
    Moortgat S, Verellen-Dumoulin C, Maystadt I, Parmentier B, Grisart B, Hennecker JL, Destree A.
    Eur J Med Genet; 2011 Jun 15; 54(2):177-80. PubMed ID: 21167329
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  • 34. A patient with 9q subtelomeric deletion syndrome with additional findings.
    Tug E, Cavdarli B, Karaoguz MY, Percin FE.
    Genet Couns; 2012 Jun 15; 23(4):465-71. PubMed ID: 23431745
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  • 37. Array-CGH analysis in patients with intellectual disability and/or congenital malformations in Brazil.
    Vianna GS, Medeiros PF, Alves AF, Silva TO, Jehee FS.
    Genet Mol Res; 2016 Feb 19; 15(1):. PubMed ID: 26909975
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  • 38. Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion.
    Okamoto N, Hayashi S, Masui A, Kosaki R, Oguri I, Hasegawa T, Imoto I, Makita Y, Hata A, Moriyama K, Inazawa J.
    J Hum Genet; 2012 Mar 19; 57(3):191-6. PubMed ID: 22258158
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  • 40. Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
    Novara F, Rinaldi B, Sisodiya SM, Coppola A, Giglio S, Stanzial F, Benedicenti F, Donaldson A, Andrieux J, Stapleton R, Weber A, Reho P, van Ravenswaaij-Arts C, Kerstjens-Frederikse WS, Vermeesch JR, Devriendt K, Bacino CA, Delahaye A, Maas SM, Iolascon A, Zuffardi O.
    Eur J Hum Genet; 2017 Jun 19; 25(6):694-701. PubMed ID: 28422132
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