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567 related items for PubMed ID: 19159549

  • 1. [Methylation-specific multiplex ligation-dependent probe amplification in diagnosis of Prader-Willi syndrome and Angelman syndrome].
    Li MR, Wang XZ, Liu XY, Yang YL, Bao XH, Zhang YH, Xiong H, Zhong N, Qin J, Wu XR, Pan H.
    Zhonghua Yi Xue Za Zhi; 2008 Dec 16; 88(46):3257-61. PubMed ID: 19159549
    [Abstract] [Full Text] [Related]

  • 2. Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
    Depienne C, Moreno-De-Luca D, Heron D, Bouteiller D, Gennetier A, Delorme R, Chaste P, Siffroi JP, Chantot-Bastaraud S, Benyahia B, Trouillard O, Nygren G, Kopp S, Johansson M, Rastam M, Burglen L, Leguern E, Verloes A, Leboyer M, Brice A, Gillberg C, Betancur C.
    Biol Psychiatry; 2009 Aug 15; 66(4):349-59. PubMed ID: 19278672
    [Abstract] [Full Text] [Related]

  • 3. Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification.
    Procter M, Chou LS, Tang W, Jama M, Mao R.
    Clin Chem; 2006 Jul 15; 52(7):1276-83. PubMed ID: 16690734
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. [Value of methylation-specific mutiplex ligation-dependent probe in the diagnosis of Prader-Willi syndrome].
    Zhan SN, Wang CZ, Yang Y, Wang Y, Wu HL, Li H, He XY.
    Zhongguo Dang Dai Er Ke Za Zhi; 2012 Jun 20; 14(6):445-8. PubMed ID: 22738453
    [Abstract] [Full Text] [Related]

  • 6. Quantification of the methylation status of the PWS/AS imprinted region: comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA.
    Dikow N, Nygren AO, Schouten JP, Hartmann C, Krämer N, Janssen B, Zschocke J.
    Mol Cell Probes; 2007 Jun 20; 21(3):208-15. PubMed ID: 17303379
    [Abstract] [Full Text] [Related]

  • 7. Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome.
    Henkhaus RS, Kim SJ, Kimonis VE, Gold JA, Dykens EM, Driscoll DJ, Butler MG.
    Genet Test Mol Biomarkers; 2012 Mar 20; 16(3):178-86. PubMed ID: 21977908
    [Abstract] [Full Text] [Related]

  • 8. Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome.
    Kim B, Park Y, Cho SI, Kim MJ, Chae JH, Kim JY, Seong MW, Park SS.
    Ann Lab Med; 2022 Jan 01; 42(1):79-88. PubMed ID: 34374352
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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 02; 12(3):181-6. PubMed ID: 14694357
    [Abstract] [Full Text] [Related]

  • 11. Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.
    Clayton-Smith J, Driscoll DJ, Waters MF, Webb T, Andrews T, Malcolm S, Pembrey ME, Nicholls RD.
    Am J Med Genet; 1993 Oct 01; 47(5):683-6. PubMed ID: 8266996
    [Abstract] [Full Text] [Related]

  • 12.
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  • 13. Prenatal diagnosis of Prader-Willi syndrome and Angelman syndrome for fetuses with suspicious deletion of chromosomal region 15q11-q13.
    Chang CW, Hsu HK, Kao CC, Huang JY, Kuo PL.
    Int J Gynaecol Obstet; 2014 Apr 01; 125(1):18-21. PubMed ID: 24434231
    [Abstract] [Full Text] [Related]

  • 14. [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 01; 129(4):367-74. PubMed ID: 11413988
    [Abstract] [Full Text] [Related]

  • 15. 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 01; 20(4):300-6. PubMed ID: 10740202
    [Abstract] [Full Text] [Related]

  • 16. Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes.
    Camprubí C, Coll MD, Villatoro S, Gabau E, Kamli A, Martínez MJ, Poyatos D, Guitart M.
    Eur J Med Genet; 2007 Apr 01; 50(1):11-20. PubMed ID: 17095305
    [Abstract] [Full Text] [Related]

  • 17. Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities.
    Bittel DC, Kibiryeva N, Butler MG.
    Genet Test; 2007 Apr 01; 11(4):467-75. PubMed ID: 18294067
    [Abstract] [Full Text] [Related]

  • 18. Effectiveness of multiplex ligation-dependent probe amplification assay used for detecting deletion of Prader-Willi syndrome.
    Shao H, Lip V, Wu BL.
    Beijing Da Xue Xue Bao Yi Xue Ban; 2005 Feb 18; 37(1):64-7. PubMed ID: 15719045
    [Abstract] [Full Text] [Related]

  • 19. [Prader-Willi and Angelman syndromes: case series diagnosed by MS-MLPA assay].
    Rios-Flores IM, Bobadilla-Morales L, Peña Padilla C, Corona-Rivera A, Acosta-Fernández E, Santana-Hernández J, Brukman-Jiménez SA, Corona Rivera JR.
    Rev Med Inst Mex Seguro Soc; 2021 Jun 14; 59(2):170-178. PubMed ID: 34232598
    [Abstract] [Full Text] [Related]

  • 20. Rapid Diagnosis of Imprinting Disorders Involving Copy Number Variation and Uniparental Disomy Using Genome-Wide SNP Microarrays.
    Liu W, Zhang R, Wei J, Zhang H, Yu G, Li Z, Chen M, Sun X.
    Cytogenet Genome Res; 2015 Jun 14; 146(1):9-18. PubMed ID: 26184742
    [Abstract] [Full Text] [Related]

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