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Journal Abstract Search

129 related items for PubMed ID: 15083703

  • 1. Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12).
    Moog U, Engelen JJ, Weber BW, Van Gelderen M, Steyaert J, Baas F, Sijstermans HM, Fryns JP.
    Genet Couns; 2004; 15(1):73-80. PubMed ID: 15083703
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  • 2. 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.
    Girirajan S, Williams S, Garbern J, Nowak N, Hatchwell E, Elsea S.
    Clin Genet; 2007 Jul; 72(1):47-58. PubMed ID: 17594399
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  • 3. Analysis of 17p11.2 chromosome region rearrangements in CMT1 patients from Ukraine.
    Hryshchenko NV, Livshits LA.
    Tsitol Genet; 2009 Jul; 43(1):36-41. PubMed ID: 19663313
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  • 14. [A case of hereditary motor and sensory neuropathy with pyramidal tract sign, optic nerve atrophy and mental retardation].
    Adachi T, Imaoka K, Shirasawa A, Yamaguchi S, Kobayashi S.
    Rinsho Shinkeigaku; 1998 Dec; 38(12):1037-41. PubMed ID: 10349345
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  • 15. Duplication of 11p14.3-p15.1 in a mentally retarded proband and his mother detected by G-banding and confirmed by high-resolution CGH and BAC FISH.
    Wyandt HE, Shim SH, Mark HF, Huang XL, Milunsky JM.
    Exp Mol Pathol; 2006 Jun; 80(3):262-6. PubMed ID: 16516886
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  • 16. Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13.
    de Ravel T, Aerssens P, Vermeesch JR, Fryns JP.
    Eur J Med Genet; 2005 Jun; 48(3):355-9. PubMed ID: 16179232
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