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Journal Abstract Search

204 related items for PubMed ID: 12794704

  • 1. Inv dup del(4)(:p14 --> p16.3::p16.3 --> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome.
    Kondoh Y, Toma T, Ohashi H, Harada N, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N.
    Am J Med Genet A; 2003 Jul 01; 120A(1):123-6. PubMed ID: 12794704
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  • 3. Inv dup del(4)(:p13-->p16.3::p16.3-->qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome.
    Paskulin GA, Riegel M, Cotter PD, Kiss A, Rosa RF, Zen PR, Mombach R, Graziadio C.
    Am J Med Genet A; 2009 Jun 01; 149A(6):1302-7. PubMed ID: 19449429
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  • 4. Unusual chromosomal mosaicism in Wolf-Hirschhorn syndrome: del(4)(p16)/der(4)(qter-q31.3::pter-qter).
    Syrrou M, Borghgraef M, Fryns JP.
    Am J Med Genet; 2001 Dec 01; 104(3):199-203. PubMed ID: 11754044
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  • 6. 4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions.
    Bi W, Cheung SW, Breman AM, Bacino CA.
    Am J Med Genet A; 2016 Oct 01; 170(10):2540-50. PubMed ID: 27287194
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  • 9. Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.
    Zollino M, Di Stefano C, Zampino G, Mastroiacovo P, Wright TJ, Sorge G, Selicorni A, Tenconi R, Zappalà A, Battaglia A, Di Rocco M, Palka G, Pallotta R, Altherr MR, Neri G.
    Am J Med Genet; 2000 Sep 18; 94(3):254-61. PubMed ID: 10995514
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  • 15. Two sibs with different phenotypes due to adjacent-1 segregation of a subtle translocation t(4;5)(p16.3;p15.3)mat.
    Qumsiyeh MB, Stevens CA.
    Am J Med Genet; 1993 Sep 01; 47(3):387-91. PubMed ID: 8135287
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  • 16. Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.
    Chabchoub E, Rodríguez L, Galán E, Mansilla E, Martínez-Fernandez ML, Martínez-Frías ML, Fryns JP, Vermeesch JR.
    J Med Genet; 2007 Apr 01; 44(4):250-6. PubMed ID: 17172463
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  • 17. A complex structural rearrangement of chromosome 4 in a woman without phenotypic features of Wolf-Hirschhorn syndrome.
    Romain DR, Columbano-Green LM, Parfitt RG, Chapman CJ, Smythe RH, Gebbie OB.
    Clin Genet; 1985 Aug 01; 28(2):166-72. PubMed ID: 4042400
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  • 19. Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion.
    Roselló M, Monfort S, Orellana C, Ferrer-Bolufer I, Quiroga R, Oltra S, Martínez F.
    Cytogenet Genome Res; 2009 Aug 01; 125(2):103-8. PubMed ID: 19729912
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  • 20. De novo inv del(4) in an infant with the Wolf-Hirschhorn syndrome.
    Serville F, Saura R, Billeaud C, Girard S, Choiset A, Longy M, Sandler B.
    Ann Genet; 1987 Aug 01; 30(3):170-4. PubMed ID: 3499855
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