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PUBMED FOR HANDHELDS

Journal Abstract Search


134 related items for PubMed ID: 20570643

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  • 5. First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome.
    Huynh MT, Tosca L, Petit F, Martinovic J, Proust A, Bouligand J, Amiel J, Azria E, Parisot F, Benoit V, Receveur A, Drévillon L, Tachdjian G, Brisset S.
    Eur J Med Genet; 2018 Jun; 61(6):322-328. PubMed ID: 29366875
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  • 7. A Novel 23.1 Mb Interstitial Deletion Involving 7q22.3q32.1 in a Girl with Short Stature, Motor Delay, and Craniofacial Dysmorphism.
    Del Refugio Rivera-Vega M, Gómez-Del Angel LA, Valdes-Miranda JM, Pérez-Cabrera A, Gonzalez-Huerta LM, Toral-López J, Cuevas-Covarrubias S.
    Cytogenet Genome Res; 2015 Jun; 145(1):1-5. PubMed ID: 25870946
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  • 9. Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15.
    Hancarova M, Vejvalkova S, Trkova M, Drabova J, Dleskova A, Vlckova M, Sedlacek Z.
    Gene; 2013 Mar 01; 516(1):158-61. PubMed ID: 23266801
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  • 10. Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems.
    de Smith AJ, van Haelst MM, Ellis RJ, Holder SE, Payne SJ, Hashim SK, Froguel P, Blakemore AI.
    Am J Med Genet A; 2011 May 01; 155A(5):1192-5. PubMed ID: 21465662
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  • 12. Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism.
    Kayes LM, Riccardi VM, Burke W, Bennett RL, Stephens K.
    J Med Genet; 1992 Oct 01; 29(10):686-90. PubMed ID: 1359144
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  • 17. 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 Oct 01; 57(11-12):654-8. PubMed ID: 25230004
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  • 19. A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features.
    Preiksaitiene E, Männik K, Dirse V, Utkus A, Ciuladaite Z, Kasnauskiene J, Kurg A, Kučinskas V.
    Eur J Med Genet; 2012 Nov 01; 55(11):656-9. PubMed ID: 22842074
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