These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


PUBMED FOR HANDHELDS

Journal Abstract Search


394 related items for PubMed ID: 9860294

  • 1. 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; 103(5):535-9. PubMed ID: 9860294
    [Abstract] [Full Text] [Related]

  • 2. Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10).
    Erdel M, Schuffenhauer S, Buchholz B, Barth-Witte U, Köchl S, Utermann B, Duba HC, Utermann G.
    Hum Genet; 1996 Jun; 97(6):784-93. PubMed ID: 8641697
    [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; 52(7):1276-83. PubMed ID: 16690734
    [Abstract] [Full Text] [Related]

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

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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 30; 90(3):313-5. PubMed ID: 1487250
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome.
    Zhang K, Liu S, Feng B, Yang Y, Zhang H, Dong R, Liu Y, Gai Z.
    PLoS One; 2016 Jan 20; 11(2):e0147824. PubMed ID: 26841067
    [Abstract] [Full Text] [Related]

  • 9. 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 20; 182(10):2442-2449. PubMed ID: 32815268
    [Abstract] [Full Text] [Related]

  • 10. 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 20; 3(4):321-32. PubMed ID: 9237260
    [Abstract] [Full Text] [Related]

  • 11. 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 20; 52(6):1005-13. PubMed ID: 16574761
    [Abstract] [Full Text] [Related]

  • 12. 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 20; 53(11):1960-2. PubMed ID: 17890436
    [Abstract] [Full Text] [Related]

  • 13. 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 20; 9(11):1540-56. PubMed ID: 25482058
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. [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]

  • 16. 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 01; 6(3):387-95. PubMed ID: 9147641
    [Abstract] [Full Text] [Related]

  • 17. [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]

  • 18. Referral diagnosis of Prader-Willi syndrome and Angelman syndrome based on methylation-specific polymerase chain reaction.
    Teng YN, Tsai WH, Wu CJ, Lin SJ, Chen YJ, Kuo PL.
    J Formos Med Assoc; 2002 Jul 16; 101(7):488-94. PubMed ID: 12353341
    [Abstract] [Full Text] [Related]

  • 19. Prader-Willi and Angelman syndromes. Disorders of genomic imprinting.
    Cassidy SB, Schwartz S.
    Medicine (Baltimore); 1998 Mar 16; 77(2):140-51. PubMed ID: 9556704
    [Abstract] [Full Text] [Related]

  • 20. 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 16; 43(11):1221-1225. PubMed ID: 27535666
    [Abstract] [Full Text] [Related]


    Page: [Next] [New Search]
    of 20.