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Journal Abstract Search

439 related items for PubMed ID: 16023556

  • 1. Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome.
    Kurosawa K, Kawame H, Okamoto N, Ochiai Y, Akatsuka A, Kobayashi M, Shimohira M, Mizuno S, Wada K, Fukushima Y, Kawawaki H, Yamamoto T, Masuno M, Imaizumi K, Kuroki Y.
    Brain Dev; 2005 Aug; 27(5):378-82. PubMed ID: 16023556
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  • 2. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
    Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC.
    Pediatrics; 2008 Feb; 121(2):404-10. PubMed ID: 18245432
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  • 3. Del 1p36 syndrome: a newly emerging clinical entity.
    Battaglia A.
    Brain Dev; 2005 Aug; 27(5):358-61. PubMed ID: 16023552
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  • 4. 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; 47(5):830-8. PubMed ID: 16686647
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  • 5. Proximal interstitial 1p36 deletion syndrome: the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2).
    Shimojima K, Páez MT, Kurosawa K, Yamamoto T.
    Brain Dev; 2009 Sep; 31(8):629-33. PubMed ID: 18835671
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  • 6. Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems.
    D'Angelo CS, Da Paz JA, Kim CA, Bertola DR, Castro CI, Varela MC, Koiffmann CP.
    Eur J Med Genet; 2006 Sep; 49(6):451-60. PubMed ID: 16564757
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  • 7. Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions.
    Ballif BC, Yu W, Shaw CA, Kashork CD, Shaffer LG.
    Hum Mol Genet; 2003 Sep 01; 12(17):2153-65. PubMed ID: 12915474
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  • 12. Spectrum of epilepsy in terminal 1p36 deletion syndrome.
    Bahi-Buisson N, Guttierrez-Delicado E, Soufflet C, Rio M, Daire VC, Lacombe D, Héron D, Verloes A, Zuberi S, Burglen L, Afenjar A, Moutard ML, Edery P, Novelli A, Bernardini L, Dulac O, Nabbout R, Plouin P, Battaglia A.
    Epilepsia; 2008 Mar 01; 49(3):509-15. PubMed ID: 18031548
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  • 15. Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.
    Yu W, Ballif BC, Kashork CD, Heilstedt HA, Howard LA, Cai WW, White LD, Liu W, Beaudet AL, Bejjani BA, Shaw CA, Shaffer LG.
    Hum Mol Genet; 2003 Sep 01; 12(17):2145-52. PubMed ID: 12915473
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  • 16. Partial monosomy of chromosome 1p36.3: characterization of the critical region and delineation of a syndrome.
    Reish O, Berry SA, Hirsch B.
    Am J Med Genet; 1995 Dec 04; 59(4):467-75. PubMed ID: 8585567
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  • 18. Monosomy 1p36 deletion syndrome.
    Gajecka M, Mackay KL, Shaffer LG.
    Am J Med Genet C Semin Med Genet; 2007 Nov 15; 145C(4):346-56. PubMed ID: 17918734
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  • 20. Choroid plexus hyperplasia and monosomy 1p36: report of new findings.
    Puvabanditsin S, Garrow E, Patel N, D'Elia A, Zaafran A, Phattraprayoon N, Davis SE.
    J Child Neurol; 2008 Aug 15; 23(8):922-5. PubMed ID: 18660475
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