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Journal Abstract Search

204 related items for PubMed ID: 15517827

  • 1. De novo paracentric inversion 14q13q24.1 in a patient with severe involuntary movements, epilepsy, oligodontia and dysmorphic features.
    Peippo M, Tengström C, Arvio M, Valanne L, Oksanen V, Kaakkola S, Ignatius J.
    Genet Couns; 2004; 15(3):341-6. PubMed ID: 15517827
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  • 2. [A second case of (de novo) paracentric inversion of the short arm of the X chromosome].
    Dahoun S.
    Ann Genet; 1990; 33(1):52-5. PubMed ID: 2195983
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  • 3. De novo paracentric inversion in a microcephalic boy: 46,XY, inv(14)(q13q24).
    Jaeken J, Fryns JP, Standaert L, De Cock P, Van den Berghe H.
    Ann Genet; 1980; 23(2):105-7. PubMed ID: 6967281
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  • 5. Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.
    Haddad MR, Mignon-Ravix C, Cacciagli P, Mégarbané A, Villard L.
    Eur J Med Genet; 2009; 52(4):211-7. PubMed ID: 19379847
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  • 6. A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms.
    Coppola A, Striano P, Gimelli S, Ciampa C, Santulli L, Caranci F, Zuffardi O, Gimelli G, Striano S, Zara F.
    Brain Dev; 2010 Mar; 32(3):248-52. PubMed ID: 19216040
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  • 8. Cloning of the breakpoints of a de novo inversion of chromosome 8, inv (8)(p11.2q23.1) in a patient with Ambras syndrome.
    Tadin-Strapps M, Warburton D, Baumeister FA, Fischer SG, Yonan J, Gilliam TC, Christiano AM.
    Cytogenet Genome Res; 2004 Mar; 107(1-2):68-76. PubMed ID: 15305058
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  • 9. U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8.
    Mitchell JJ, Vekemans M, Luscombe S, Hayden M, Weber B, Richter A, Sparkes R, Kojis T, Watters G, Der Kaloustian VM.
    Am J Med Genet; 1994 Feb 15; 49(4):384-7. PubMed ID: 8160729
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  • 11. 6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases.
    Elia M, Striano P, Fichera M, Gaggero R, Castiglia L, Galesi O, Malacarne M, Pierluigi M, Amato C, Musumeci SA, Romano C, Majore S, Grammatico P, Zara F, Striano S, Faravelli F.
    Epilepsia; 2006 May 15; 47(5):830-8. PubMed ID: 16686647
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  • 15. CHARGE association in a child with de novo inverted duplication (14)(q22-->q24.3).
    North KN, Wu BL, Cao BN, Whiteman DA, Korf BR.
    Am J Med Genet; 1995 Jul 17; 57(4):610-4. PubMed ID: 7573139
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  • 16. Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature.
    de Die-Smulders CE, Engelen JJ, Schrander-Stumpel CT, Govaerts LC, de Vries B, Vles JS, Wagemans A, Schijns-Fleuren S, Gillessen-Kaesbach G, Fryns JP.
    Am J Med Genet; 1995 Nov 20; 59(3):369-74. PubMed ID: 8599364
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  • 19. A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features.
    Hoffer MJ, Hilhorst-Hofstee Y, Knijnenburg J, Hansson KB, Engelberts AC, Laan LA, Bakker E, Rosenberg C.
    Eur J Med Genet; 2007 Nov 20; 50(2):149-54. PubMed ID: 17223398
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