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Journal Abstract Search

249 related items for PubMed ID: 34232598

  • 1. [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]

  • 2. 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 14; 52(7):1276-83. PubMed ID: 16690734
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  • 3. 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]

  • 4. 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 01; 16(3):178-86. PubMed ID: 21977908
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  • 5. [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
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  • 6. 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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  • 7. 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 30; 125(1):18-21. PubMed ID: 24434231
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  • 8. [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 30; 129(4):367-74. PubMed ID: 11413988
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  • 10. Comparative molecular approaches in Prader-Willi syndrome diagnosis.
    Botezatu A, Puiu M, Cucu N, Diaconu CC, Badiu C, Arsene C, Iancu IV, Plesa A, Anton G.
    Gene; 2016 Jan 10; 575(2 Pt 1):353-8. PubMed ID: 26335514
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  • 13. Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD.
    Muthusamy K, Macke EL, Klee EW, Tebben PJ, Hand JL, Hasadsri L, Marcou CA, Schimmenti LA.
    Am J Med Genet A; 2020 Oct 10; 182(10):2442-2449. PubMed ID: 32815268
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  • 15. 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 10; 66(2):104690. PubMed ID: 36587803
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  • 16. 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 10; 90(3):313-5. PubMed ID: 1487250
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  • 19. Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes.
    Glenn CC, Driscoll DJ, Yang TP, Nicholls RD.
    Mol Hum Reprod; 1997 Apr 10; 3(4):321-32. PubMed ID: 9237260
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  • 20. 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 10; 103(5):535-9. PubMed ID: 9860294
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