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Journal Abstract Search

166 related items for PubMed ID: 7951232

  • 1.
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  • 2. Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome.
    Kubota T, Sutcliffe JS, Aradhya S, Gillessen-Kaesbach G, Christian SL, Horsthemke B, Beaudet AL, Ledbetter DH.
    Am J Med Genet; 1996 Dec 02; 66(1):77-80. PubMed ID: 8957518
    [Abstract] [Full Text] [Related]

  • 3. Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.
    Zeschnigk M, Schmitz B, Dittrich B, Buiting K, Horsthemke B, Doerfler W.
    Hum Mol Genet; 1997 Mar 02; 6(3):387-95. PubMed ID: 9147641
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  • 4. Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint.
    Schulze A, Hansen C, Skakkebaek NE, Brøndum-Nielsen K, Ledbeter DH, Tommerup N.
    Nat Genet; 1996 Apr 02; 12(4):452-4. PubMed ID: 8630505
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  • 5. Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene.
    Buiting K, Dittrich B, Gross S, Greger V, Lalande M, Robinson W, Mutirangura A, Ledbetter D, Horsthemke B.
    Hum Mol Genet; 1993 Dec 02; 2(12):1991-4. PubMed ID: 8111365
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  • 6. Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis.
    Kubota T, Aradhya S, Macha M, Smith AC, Surh LC, Satish J, Verp MS, Nee HL, Johnson A, Christan SL, Ledbetter DH.
    J Med Genet; 1996 Dec 02; 33(12):1011-4. PubMed ID: 9004133
    [Abstract] [Full Text] [Related]

  • 7. A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.
    Chotai KA, Payne SJ.
    J Med Genet; 1998 Jun 02; 35(6):472-5. PubMed ID: 9643288
    [Abstract] [Full Text] [Related]

  • 8. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.
    Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls RD, Horsthemke B.
    Nat Genet; 1995 Apr 02; 9(4):395-400. PubMed ID: 7795645
    [Abstract] [Full Text] [Related]

  • 9. Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes.
    White HE, Hall VJ, Cross NC.
    Clin Chem; 2007 Nov 02; 53(11):1960-2. PubMed ID: 17890436
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  • 11. 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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  • 14. A molecular and cytogenetic study in Finnish Prader-Willi patients.
    Kokkonen H, Kähkönen M, Leisti J.
    Hum Genet; 1995 May 20; 95(5):568-71. PubMed ID: 7759080
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  • 15. DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63).
    van den Ouweland AM, van der Est MN, Wesby-van Swaay E, Tijmensen TS, Los FJ, Van Hemel JO, Hennekam RC, Meijers-Heijboer HJ, Niermeijer MF, Halley DJ.
    Hum Genet; 1995 May 20; 95(5):562-7. PubMed ID: 7759079
    [Abstract] [Full Text] [Related]

  • 16. Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient.
    Sun Y, Nicholls RD, Butler MG, Saitoh S, Hainline BE, Palmer CG.
    Hum Mol Genet; 1996 Apr 20; 5(4):517-24. PubMed ID: 8845846
    [Abstract] [Full Text] [Related]

  • 17. Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprinting.
    Ming JE, Blagowidow N, Knoll JH, Rollings L, Fortina P, McDonald-McGinn DM, Spinner NB, Zackai EH.
    Am J Med Genet; 2000 May 01; 92(1):19-24. PubMed ID: 10797418
    [Abstract] [Full Text] [Related]

  • 18. Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy.
    White LM, Rogan PK, Nicholls RD, Wu BL, Korf B, Knoll JH.
    Am J Hum Genet; 1996 Aug 01; 59(2):423-30. PubMed ID: 8755930
    [Abstract] [Full Text] [Related]

  • 19. Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.
    Ishikawa T, Kibe T, Wada Y.
    Am J Med Genet; 1996 Apr 24; 62(4):350-2. PubMed ID: 8723064
    [Abstract] [Full Text] [Related]

  • 20. A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.
    Mutirangura A, Jayakumar A, Sutcliffe JS, Nakao M, McKinney MJ, Buiting K, Horsthemke B, Beaudet AL, Chinault AC, Ledbetter DH.
    Genomics; 1993 Dec 24; 18(3):546-52. PubMed ID: 8307564
    [Abstract] [Full Text] [Related]

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