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Journal Abstract Search

163 related items for PubMed ID: 17696124

  • 1. Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: implications for critical region designation.
    South ST, Bleyl SB, Carey JC.
    Am J Med Genet A; 2007 Sep 15; 143A(18):2137-42. PubMed ID: 17696124
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  • 3. Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder.
    Zollino M, Orteschi D, Ruiter M, Pfundt R, Steindl K, Cafiero C, Ricciardi S, Contaldo I, Chieffo D, Ranalli D, Acquafondata C, Murdolo M, Marangi G, Asaro A, Battaglia D.
    Epilepsia; 2014 Jun 15; 55(6):849-57. PubMed ID: 24738919
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  • 5. The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case.
    Rodríguez L, Zollino M, Climent S, Mansilla E, López-Grondona F, Martínez-Fernández ML, Murdolo M, Martínez-Frías ML.
    Am J Med Genet A; 2005 Jul 15; 136(2):175-8. PubMed ID: 15948183
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  • 7. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.
    Zollino M, Murdolo M, Marangi G, Pecile V, Galasso C, Mazzanti L, Neri G.
    Am J Med Genet C Semin Med Genet; 2008 Nov 15; 148C(4):257-69. PubMed ID: 18932124
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  • 8. Preliminary phenotypic map of chromosome 4p16 based on 4p deletions.
    Estabrooks LL, Rao KW, Driscoll DA, Crandall BF, Dean JC, Ikonen E, Korf B, Aylsworth AS.
    Am J Med Genet; 1995 Jul 17; 57(4):581-6. PubMed ID: 7573133
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  • 9. Interstitial deletion of distal chromosome 4p in a patient without classical Wolf-Hirschhorn syndrome.
    Estabrooks LL, Rao KW, Korf B.
    Am J Med Genet; 1993 Jan 01; 45(1):97-100. PubMed ID: 8418669
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  • 11.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Battaglia A, Carey JC, South ST.
    ; 1993 Jan 01. PubMed ID: 20301362
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  • 12. Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome.
    Gandelman KY, Gibson L, Meyn MS, Yang-Feng TL.
    Am J Hum Genet; 1992 Sep 01; 51(3):571-8. PubMed ID: 1379774
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  • 14. A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations.
    Iype T, Alakbarzade V, Iype M, Singh R, Sreekantan-Nair A, Chioza BA, Mohapatra TM, Baple EL, Patton MA, Warner TT, Proukakis C, Kulkarni A, Crosby AH.
    BMC Med Genet; 2015 Nov 10; 16():104. PubMed ID: 26554554
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  • 15. Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3.
    South ST, Hannes F, Fisch GS, Vermeesch JR, Zollino M.
    Am J Med Genet C Semin Med Genet; 2008 Nov 15; 148C(4):270-4. PubMed ID: 18932125
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  • 16. Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf-Hirschhorn syndrome.
    So J, Müller I, Kunath M, Herrmann S, Ullmann R, Schweiger S.
    Am J Med Genet A; 2008 Jan 01; 146A(1):103-9. PubMed ID: 18074389
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  • 18. "Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype.
    Zollino M, Wright TJ, Di Stefano C, Tosolini A, Battaglia A, Altherr MR, Neri G.
    Am J Med Genet; 1999 Feb 19; 82(5):371-5. PubMed ID: 10069706
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  • 19. High resolution characterization of an interstitial deletion of less than 1.9 Mb at 4p16.3 associated with Wolf-Hirschhorn syndrome.
    Fang YY, Bain S, Haan EA, Eyre HJ, MacDonald M, Wright TJ, Altherr MR, Riess O, Sutherland G, Callen DF.
    Am J Med Genet; 1997 Sep 05; 71(4):453-7. PubMed ID: 9286454
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