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Journal Abstract Search

318 related items for PubMed ID: 9195159

  • 1. A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus.
    Zeschnigk M, Lich C, Buiting K, Doerfler W, Horsthemke B.
    Eur J Hum Genet; 1997; 5(2):94-8. PubMed ID: 9195159
    [Abstract] [Full Text] [Related]

  • 2. Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method.
    Kosaki K, McGinniss MJ, Veraksa AN, McGinnis WJ, Jones KL.
    Am J Med Genet; 1997 Dec 19; 73(3):308-13. PubMed ID: 9415690
    [Abstract] [Full Text] [Related]

  • 3. The feasibility of PCR-based diagnosis of Prader-Willi and Angelman syndromes using restriction analysis after bisulfite modification of genomic DNA.
    Velinov M, Gu H, Genovese M, Duncan C, Brown WT, Jenkins E.
    Mol Genet Metab; 2000 Jan 19; 69(1):81-3. PubMed ID: 10655162
    [Abstract] [Full Text] [Related]

  • 4. Methylation-specific PCR simplifies imprinting analysis.
    Kubota T, Das S, Christian SL, Baylin SB, Herman JG, Ledbetter DH.
    Nat Genet; 1997 May 19; 16(1):16-7. PubMed ID: 9140389
    [No Abstract] [Full Text] [Related]

  • 5. A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms.
    Baumer A, Wiedemann U, Hergersberg M, Schinzel A.
    Hum Mutat; 2001 May 19; 17(5):423-30. PubMed ID: 11317358
    [Abstract] [Full Text] [Related]

  • 6. 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 19; 6(3):387-95. PubMed ID: 9147641
    [Abstract] [Full Text] [Related]

  • 7. Methylation analysis at three different loci within the imprinted region of chromosome 15q11-13.
    Buchholz T, Jackson J, Smith A.
    Am J Med Genet; 1997 Oct 03; 72(1):117-9. PubMed ID: 9295088
    [No Abstract] [Full Text] [Related]

  • 8. Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome.
    White HE, Durston VJ, Harvey JF, Cross NC.
    Clin Chem; 2006 Jun 03; 52(6):1005-13. PubMed ID: 16574761
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. 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 20; 9(4):395-400. PubMed ID: 7795645
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. [Molecular genetic study of causes of the Prader-Willi and Angelman syndrome].
    Capková CP, Vrtĕl R, Santavá A, Zapletalová J, Krsiaková J, Hyjánek J, Santavý J.
    Cas Lek Cesk; 2005 Dec 02; 144(2):113-8. PubMed ID: 15807298
    [Abstract] [Full Text] [Related]

  • 13. [Molecular diagnosis of Prader-Willi and Angelman syndromes: methylation, cytogenetics and FISH analysis].
    Santa María L, Curotto B, Cortés F, Rojas C, Alliende MA.
    Rev Med Chil; 2001 Apr 02; 129(4):367-74. PubMed ID: 11413988
    [Abstract] [Full Text] [Related]

  • 14. [Quick diagnosis of Prader-Willi and Angelman syndromes by means of methylation test by PCR].
    Huerta Rivas C, Barabash Bustelo A, Gallego Merlo J, Ramos Corrales C, Osorio Cabrero A, Robledo Batanero M, Benítez Ortiz J.
    An Esp Pediatr; 1998 Jun 02; 48(6):583-6. PubMed ID: 9662840
    [Abstract] [Full Text] [Related]

  • 15. Detection of imprinting mutations in Angelman syndrome using a probe for exon alpha of SNRPN.
    Beuten J, Sutcliffe JS, Casey BM, Beaudet AL, Hennekam RC, Willems PJ.
    Am J Med Genet; 1996 May 17; 63(2):414-5. PubMed ID: 8725798
    [No Abstract] [Full Text] [Related]

  • 16. Validation of a multiplex methylation-sensitive PCR assay for the diagnosis of Prader-Willi and Angelman's syndromes.
    Buller A, Pandya A, Jackson-Cook C, Bodurtha J, Tekin M, Wilkinson DS, Garrett CT, Ferreira-Gonzalez A.
    Mol Diagn; 2000 Sep 17; 5(3):239-43. PubMed ID: 11070159
    [Abstract] [Full Text] [Related]

  • 17. A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.
    Chotai KA, Payne SJ.
    J Med Genet; 1998 Jun 17; 35(6):472-5. PubMed ID: 9643288
    [Abstract] [Full Text] [Related]

  • 18. [Detection of Prader-Willi syndrome by methylation-specific PCR].
    Song M, Li L, Fu J, Li X, Lu G.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2000 Feb 17; 17(1):54-6. PubMed ID: 10653912
    [Abstract] [Full Text] [Related]

  • 19. DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting.
    Glenn CC, Deng G, Michaelis RC, Tarleton J, Phelan MC, Surh L, Yang TP, Driscoll DJ.
    Prenat Diagn; 2000 Apr 17; 20(4):300-6. PubMed ID: 10740202
    [Abstract] [Full Text] [Related]

  • 20. 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 17; 53(11):1960-2. PubMed ID: 17890436
    [Abstract] [Full Text] [Related]

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