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Journal Abstract Search


178 related items for PubMed ID: 16708226

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  • 2. Genomic disorders on 22q11.
    McDermid HE, Morrow BE.
    Am J Hum Genet; 2002 May; 70(5):1077-88. PubMed ID: 11925570
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  • 3. A common molecular basis for rearrangement disorders on chromosome 22q11.
    Edelmann L, Pandita RK, Spiteri E, Funke B, Goldberg R, Palanisamy N, Chaganti RS, Magenis E, Shprintzen RJ, Morrow BE.
    Hum Mol Genet; 1999 Jul; 8(7):1157-67. PubMed ID: 10369860
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  • 4. Detailed analysis of 22q11.2 with a high density MLPA probe set.
    Jalali GR, Vorstman JA, Errami A, Vijzelaar R, Biegel J, Shaikh T, Emanuel BS.
    Hum Mutat; 2008 Mar; 29(3):433-40. PubMed ID: 18033723
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  • 7. FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22).
    Bartsch O, Rasi S, Hoffmann K, Blin N.
    Eur J Hum Genet; 2005 May; 13(5):592-8. PubMed ID: 15756300
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  • 12. 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; 49(11):681-8. PubMed ID: 23042811
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  • 13. 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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  • 15. An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment.
    Pebrel-Richard C, Kemeny S, Gouas L, Eymard-Pierre E, Blanc N, Francannet C, Tchirkov A, Goumy C, Vago P.
    Eur J Med Genet; 2012 Nov 15; 55(11):650-5. PubMed ID: 22796526
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  • 18. A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?
    Henwood J, Pickard C, Leek JP, Bennett CP, Crow YJ, Thompson JD, Ahmed M, Watterson KG, Parsons JM, Roberts E, Lench NJ.
    J Med Genet; 2001 Aug 15; 38(8):533-6. PubMed ID: 11494964
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  • 19. Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations.
    Ravnan JB, Chen E, Golabi M, Lebo RV.
    Am J Med Genet; 1996 Dec 18; 66(3):250-6. PubMed ID: 8985481
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  • 20. FISH approach to determine cat eye syndrome chromosome breakpoints of a patient with cat eye syndrome type II.
    Gentile M, De Sanctis S, Cariola F, Spezzi T, Di Carlo A, Tontoli F, Lista F, Buonadonna AL.
    Eur J Med Genet; 2005 Dec 18; 48(1):33-9. PubMed ID: 15953404
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