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Journal Abstract Search

162 related items for PubMed ID: 9089049

  • 21.
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  • 22. Detection of chromosome 15 deletion in Prader-Willi syndrome using fluorescence in situ hybridization.
    Suzuki Y, Sasagawa I, Yazawa H, Tateno T, Nakada T.
    Arch Androl; 2000; 45(1):13-7. PubMed ID: 10959497
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  • 23.
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  • 25. 'Severe' Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t(15,22)(q14;q11.2) translocation.
    Matsumura M, Kubota T, Hidaka E, Wakui K, Kadowaki S, Ueta I, Shimizu T, Ueno I, Yamauchi K, Herzing LB, Nurmi EL, Sutcliffe JS, Fukushima Y, Katsuyama T.
    Clin Genet; 2003 Jan; 63(1):79-81. PubMed ID: 12519378
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  • 26. [To know more about the Prader-Willi syndrome. Diagnosis].
    Midro AT, Olchowik B, Lebiedzińska A, Midro H.
    Psychiatr Pol; 2009 Jan; 43(2):135-49. PubMed ID: 19697784
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  • 27. A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome.
    Smith A, Lindeman R, Volpato F, Kearney A, White S, Haan E, Trent RJ.
    Hum Genet; 1991 Mar; 86(5):534-6. PubMed ID: 2016095
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  • 28. Duplication within chromosome region 15q11-q13 in a patient with similarities to Prader-Willi syndrome confirmed by region-specific and band-specific fish.
    Engelen JJ, Loots WJ, Albrechts JC, Schrander-Stumpel CT, Dirckx R, Smeets HJ, Hamers AJ, Geraedts JP.
    Genet Couns; 1999 Mar; 10(2):123-32. PubMed ID: 10422004
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  • 29.
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  • 31. A patient with Prader-Willi syndrome and a supernumerary marker chromosome r(15)(q11.1-13p11.1)pat and maternal heterodisomy.
    Werner M, Ben-Neriah Z, Silverstein S, Lerer I, Dagan Y, Abeliovich D.
    Am J Med Genet A; 2004 Aug 30; 129A(2):176-9. PubMed ID: 15316980
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  • 32. [Prader-Willi syndrome in 22-year-old man--case study].
    Kardas P, Adamiak-Kardas M.
    Wiad Lek; 2001 Aug 30; 54(11-12):709-14. PubMed ID: 11928560
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  • 33. Microdeletion 15q26.2qter and Microduplication 18q23 in a Patient with Prader-Willi-Like Syndrome: Clinical Findings.
    Dello Russo P, Demori E, Sechi A, Passon N, Romagno D, Gnan C, Zoratti R, Damante G.
    Cytogenet Genome Res; 2016 Aug 30; 148(1):14-8. PubMed ID: 27160288
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  • 34. [Genetic basis of Prader-Willi and Angelman syndromes: implications for the biologic diagnosis].
    Dupont JM, Cuisset L.
    Arch Pediatr; 1998 Apr 30; 5(4):418-24. PubMed ID: 9759164
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  • 35. Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromes.
    Flori E, Biancalana V, Girard-Lemaire F, Favre R, Flori J, Doray B, Mandel JL.
    Eur J Hum Genet; 2004 Mar 30; 12(3):181-6. PubMed ID: 14694357
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  • 36. Atypical Prader-Willi and 15q13.3 Microdeletion Syndromes in a Patient with an Unbalanced Translocation.
    Colovati MES, Grossi BM, Nunes GD, Fock RA, Guedes DR, Melaragno MI, Cernach MCSP.
    Cytogenet Genome Res; 2019 Mar 30; 158(4):192-198. PubMed ID: 31394532
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  • 37. 'Expanded' Prader-Willi syndrome in a boy with an unusual 15q chromosome deletion.
    Pauli RM, Meisner LF, Szmanda RJ.
    Am J Dis Child; 1983 Nov 30; 137(11):1087-9. PubMed ID: 6637912
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  • 38.
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  • 39. Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).
    Park JP, Moeschler JB, Hani VH, Hawk AB, Belloni DR, Noll WW, Mohandas TK.
    Am J Med Genet; 1998 Jun 30; 78(2):134-9. PubMed ID: 9674903
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  • 40. True telomeric translocation in a baby with the Prader-Willi phenotype.
    Reeve A, Norman A, Sinclair P, Whittington-Smith R, Hamey Y, Donnai D, Read A.
    Am J Med Genet; 1993 Aug 01; 47(1):1-6. PubMed ID: 8368237
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