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Journal Abstract Search

475 related items for PubMed ID: 18618997

  • 1. Complex rearrangements of chromosome 15 in two patients with mild/atypical Prader Willi syndrome.
    Salavoura K, Kolialexi A, Sofocleous C, Kalaitzidaki M, Pampanos A, Kitsiou S, Mavrou A.
    Genet Couns; 2008; 19(2):219-24. PubMed ID: 18618997
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  • 3. The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age.
    Ginsburg C, Fokstuen S, Schinzel A.
    Am J Med Genet; 2000 Dec 18; 95(5):454-60. PubMed ID: 11146466
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  • 4. Sporadic occurrence of nondeletion Prader-Willi syndrome in two cases: a female with maternal uniparental disomy and a male with complex chromosomal rearrangement.
    Murthy SK, al-Nassar KE, Verghese L.
    Nutrition; 1995 Dec 18; 11(5 Suppl):650-2. PubMed ID: 8748243
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  • 11. Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism.
    Christian SL, Smith AC, Macha M, Black SH, Elder FF, Johnson JM, Resta RG, Surti U, Suslak L, Verp MS, Ledbetter DH.
    Prenat Diagn; 1996 Apr 18; 16(4):323-32. PubMed ID: 8734806
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  • 12. Molecular study of the Prader-Willi syndrome: deletion, RFLP, and phenotype analyses of 50 patients.
    Hamabe J, Fukushima Y, Harada N, Abe K, Matsuo N, Nagai T, Yoshioka A, Tonoki H, Tsukino R, Niikawa N.
    Am J Med Genet; 1991 Oct 01; 41(1):54-63. PubMed ID: 1683159
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  • 13. Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15.
    L'Herminé AC, Aboura A, Brisset S, Cuisset L, Castaigne V, Labrune P, Frydman R, Tachdjian G.
    Prenat Diagn; 2003 Nov 01; 23(11):938-43. PubMed ID: 14634983
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  • 14. Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15.
    Cassidy SB, Forsythe M, Heeger S, Nicholls RD, Schork N, Benn P, Schwartz S.
    Am J Med Genet; 1997 Feb 11; 68(4):433-40. PubMed ID: 9021017
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  • 15. Differences in behavioural phenotype between parental deletion and maternal uniparental disomy in Prader-Willi syndrome: an ERP study.
    Stauder JE, Boer H, Gerits RH, Tummers A, Whittington J, Curfs LM.
    Clin Neurophysiol; 2005 Jun 11; 116(6):1464-70. PubMed ID: 15978509
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  • 19. Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome.
    Zilina O, Kahre T, Talvik I, Oiglane-Shlik E, Tillmann V, Ounap K.
    Eur J Med Genet; 2014 Jun 11; 57(6):279-83. PubMed ID: 24704109
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