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Journal Abstract Search

154 related items for PubMed ID: 7910502

  • 1. Prader-Willi syndrome: diagnostic strategy with a cytogenetic and molecular approach.
    Malzac P, Moncla A, Voelckel MA, Livet MO, Girardot L, Mattei MG, Mattei JF.
    Neuromuscul Disord; 1993; 3(5-6):493-6. PubMed ID: 7910502
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  • 2. Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10).
    Erdel M, Schuffenhauer S, Buchholz B, Barth-Witte U, Köchl S, Utermann B, Duba HC, Utermann G.
    Hum Genet; 1996 Jun; 97(6):784-93. PubMed ID: 8641697
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  • 6. Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis.
    Kuwano A, Mutirangura A, Dittrich B, Buiting K, Horsthemke B, Saitoh S, Niikawa N, Ledbetter SA, Greenberg F, Chinault AC.
    Hum Mol Genet; 1992 Sep; 1(6):417-25. PubMed ID: 1363801
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  • 7. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria.
    Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB.
    Pediatrics; 2001 Nov; 108(5):E92. PubMed ID: 11694676
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  • 8. Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.
    Saitoh S, Buiting K, Cassidy SB, Conroy JM, Driscoll DJ, Gabriel JM, Gillessen-Kaesbach G, Glenn CC, Greenswag LR, Horsthemke B, Kondo I, Kuwajima K, Niikawa N, Rogan PK, Schwartz S, Seip J, Williams CA, Nicholls RD.
    Am J Med Genet; 1997 Jan 20; 68(2):195-206. PubMed ID: 9028458
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  • 10. 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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  • 11. Somatic recombination rather than uniparental disomy suggested as another mechanism by which genetic imprinting may play a role in the etiology of Prader-Willi syndrome.
    Gregory CA, Schwartz J, Kirkilionis AJ, Rudd N, Hamerton JL.
    Hum Genet; 1991 Nov 01; 88(1):42-8. PubMed ID: 1683645
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  • 13. A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.
    Chotai KA, Payne SJ.
    J Med Genet; 1998 Jun 01; 35(6):472-5. PubMed ID: 9643288
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  • 14. Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.
    Christian SL, Robinson WP, Huang B, Mutirangura A, Line MR, Nakao M, Surti U, Chakravarti A, Ledbetter DH.
    Am J Hum Genet; 1995 Jul 01; 57(1):40-8. PubMed ID: 7611294
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  • 16. Combined cytogenetic and molecular analyses for the diagnosis of Prader-Willi/Angelman syndromes.
    Borelina D, Engel N, Esperante S, Ferreiro V, Ferrer M, Torrado M, Goldschmidt E, Francipane L, Szijan I.
    J Biochem Mol Biol; 2004 Sep 30; 37(5):522-6. PubMed ID: 15479613
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  • 17. 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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  • 18. DNA deletion and its parental origin in Angelman syndrome patients.
    Hamabe J, Kuroki Y, Imaizumi K, Sugimoto T, Fukushima Y, Yamaguchi A, Izumikawa Y, Niikawa N.
    Am J Med Genet; 1991 Oct 01; 41(1):64-8. PubMed ID: 1683160
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  • 20. A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes.
    Driscoll DJ, Waters MF, Williams CA, Zori RT, Glenn CC, Avidano KM, Nicholls RD.
    Genomics; 1992 Aug 01; 13(4):917-24. PubMed ID: 1505981
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