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Journal Abstract Search

346 related items for PubMed ID: 19490635

  • 1. A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.
    Fernández L, Nevado J, Santos F, Heine-Suñer D, Martinez-Glez V, García-Miñaur S, Palomo R, Delicado A, Pajares IL, Palomares M, García-Guereta L, Valverde E, Hawkins F, Lapunzina P.
    BMC Med Genet; 2009 Jun 02; 10():48. PubMed ID: 19490635
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  • 6. 22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.
    Portnoï MF, Lebas F, Gruchy N, Ardalan A, Biran-Mucignat V, Malan V, Finkel L, Roger G, Ducrocq S, Gold F, Taillemite JL, Marlin S.
    Am J Med Genet A; 2005 Aug 15; 137(1):47-51. PubMed ID: 16007629
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  • 8. Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification.
    Stachon AC, Baskin B, Smith AC, Shugar A, Cytrynbaum C, Fishman L, Mendoza-Londono R, Klatt R, Teebi A, Ray PN, Weksberg R.
    Am J Med Genet A; 2007 Dec 15; 143A(24):2924-30. PubMed ID: 18000985
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  • 10. 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.
    Alberti A, Romano C, Falco M, Calì F, Schinocca P, Galesi O, Spalletta A, Di Benedetto D, Fichera M.
    Clin Genet; 2007 Feb 15; 71(2):177-82. PubMed ID: 17250668
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  • 11. De novo Unbalanced 1;22 Translocation with 22q11 Deletion Syndrome.
    Vittas S, Efstathiou G, Tsakalidis C, Malamaki C, Antari V, Chatzitoliou E, Chatziioannidis I, Galli-Tsinopoulou A, Soubasi V.
    Cytogenet Genome Res; 2019 Feb 15; 158(1):32-37. PubMed ID: 30799418
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  • 12. A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.
    Vaz SO, Pires R, Pires LM, Carreira IM, Anjos R, Maciel P, Mota-Vieira L.
    BMC Pediatr; 2015 Aug 22; 15():95. PubMed ID: 26297018
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  • 13. Detection of 22q11.2 deletion among 139 patients with Di George/Velocardiofacial syndrome features.
    Kitsiou-Tzeli S, Kolialexi A, Fryssira H, Galla-Voumvouraki A, Salavoura K, Kanariou M, Tsangaris GT, Kanavakis E, Mavrou A.
    In Vivo; 2004 Aug 22; 18(5):603-8. PubMed ID: 15523900
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  • 16. Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events.
    Bi W, Probst FJ, Wiszniewska J, Plunkett K, Roney EK, Carter BS, Williams MD, Stankiewicz P, Patel A, Stevens CA, Lupski JR, Cheung SW.
    J Med Genet; 2012 Nov 22; 49(11):681-8. PubMed ID: 23042811
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  • 20. A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome.
    Prescott K, Woodfine K, Stubbs P, Super M, Kerr B, Palmer R, Carter NP, Scambler P.
    Hum Genet; 2005 Jan 22; 116(1-2):83-90. PubMed ID: 15549396
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