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Journal Abstract Search

212 related items for PubMed ID: 36587803

  • 1. Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing.
    Yamada M, Okuno H, Okamoto N, Suzuki H, Miya F, Takenouchi T, Kosaki K.
    Eur J Med Genet; 2023 Feb; 66(2):104690. PubMed ID: 36587803
    [Abstract] [Full Text] [Related]

  • 2. Influence of the Prader-Willi syndrome imprinting center on the DNA methylation landscape in the mouse brain.
    Brant JO, Riva A, Resnick JL, Yang TP.
    Epigenetics; 2014 Nov; 9(11):1540-56. PubMed ID: 25482058
    [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; 6(3):387-95. PubMed ID: 9147641
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  • 4. Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13.
    Dittrich B, Robinson WP, Knoblauch H, Buiting K, Schmidt K, Gillessen-Kaesbach G, Horsthemke B.
    Hum Genet; 1992 Nov; 90(3):313-5. PubMed ID: 1487250
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  • 5. 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]

  • 6. Prader-Willi and Angelman syndromes. Disorders of genomic imprinting.
    Cassidy SB, Schwartz S.
    Medicine (Baltimore); 1998 Mar 01; 77(2):140-51. PubMed ID: 9556704
    [Abstract] [Full Text] [Related]

  • 7. 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 01; 52(7):1276-83. PubMed ID: 16690734
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  • 9. A modified MS-PCR approach to diagnose patients with Prader-Willi and Angelman syndrome.
    Dos Santos JF, Mota LR, Rocha PH, Ferreira de Lima RL.
    Mol Biol Rep; 2016 Nov 01; 43(11):1221-1225. PubMed ID: 27535666
    [Abstract] [Full Text] [Related]

  • 10. 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 Nov 01; 5(2):94-8. PubMed ID: 9195159
    [Abstract] [Full Text] [Related]

  • 11. [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]

  • 12. 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 16; 52(6):1005-13. PubMed ID: 16574761
    [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 16; 129(4):367-74. PubMed ID: 11413988
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  • 15. DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.
    Joshi RS, Garg P, Zaitlen N, Lappalainen T, Watson CT, Azam N, Ho D, Li X, Antonarakis SE, Brunner HG, Buiting K, Cheung SW, Coffee B, Eggermann T, Francis D, Geraedts JP, Gimelli G, Jacobson SG, Le Caignec C, de Leeuw N, Liehr T, Mackay DJ, Montgomery SB, Pagnamenta AT, Papenhausen P, Robinson DO, Ruivenkamp C, Schwartz C, Steiner B, Stevenson DA, Surti U, Wassink T, Sharp AJ.
    Am J Hum Genet; 2016 Sep 01; 99(3):555-566. PubMed ID: 27569549
    [Abstract] [Full Text] [Related]

  • 16. [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
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  • 18. Evaluation of methylation analysis for diagnostic testing in 258 referrals suspected of Prader-Willi or Angelman syndromes.
    Buchholz T, Jackson J, Robson L, Smith A.
    Hum Genet; 1998 Nov 14; 103(5):535-9. PubMed ID: 9860294
    [Abstract] [Full Text] [Related]

  • 19. A rapid and accurate methylation-sensitive high-resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients.
    Ribeiro Ferreira I, Darleans Dos Santos Cunha W, Henrique Ferreira Gomes L, Azevedo Cintra H, Lopes Cabral Guimarães Fonseca L, Ferreira Bastos E, Clinton Llerena J, Farias Meira de Vasconcelos Z, da Cunha Guida L.
    Mol Genet Genomic Med; 2019 Jun 14; 7(6):e637. PubMed ID: 31033246
    [Abstract] [Full Text] [Related]

  • 20. Imprinting in Angelman and Prader-Willi syndromes.
    Jiang Y, Tsai TF, Bressler J, Beaudet AL.
    Curr Opin Genet Dev; 1998 Jun 14; 8(3):334-42. PubMed ID: 9691003
    [Abstract] [Full Text] [Related]

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