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Journal Abstract Search

588 related items for PubMed ID: 8641697

  • 1. 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]

  • 2. 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]

  • 3. 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]

  • 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 30; 35(6):472-5. PubMed ID: 9643288
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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 20; 52(7):1276-83. PubMed ID: 16690734
    [Abstract] [Full Text] [Related]

  • 7. FISH detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes.
    Teshima I, Chadwick D, Chitayat D, Kobayashi J, Ray P, Shuman C, Siegel-Bartelt J, Strasberg P, Weksberg R.
    Am J Med Genet; 1996 Mar 29; 62(3):217-23. PubMed ID: 8882776
    [Abstract] [Full Text] [Related]

  • 8. 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 29; 90(3):313-5. PubMed ID: 1487250
    [Abstract] [Full Text] [Related]

  • 9. [DNA-based diagnosis of Angelman syndrome and Prader-Willi syndrome].
    Saitoh S.
    No To Hattatsu; 1993 Nov 29; 25(6):501-7. PubMed ID: 8260201
    [Abstract] [Full Text] [Related]

  • 10. 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 29; 182(10):2442-2449. PubMed ID: 32815268
    [Abstract] [Full Text] [Related]

  • 11. Prader-Willi syndrome: diagnostic strategy with a cytogenetic and molecular approach.
    Malzac P, Moncla A, Voelckel MA, Livet MO, Girardot L, Mattei MG, Mattei JF.
    Neuromuscul Disord; 1993 Oct 29; 3(5-6):493-6. PubMed ID: 7910502
    [Abstract] [Full Text] [Related]

  • 12. 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 Oct 29; 11(2):e0147824. PubMed ID: 26841067
    [Abstract] [Full Text] [Related]

  • 13. Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.
    Mutirangura A, Greenberg F, Butler MG, Malcolm S, Nicholls RD, Chakravarti A, Ledbetter DH.
    Hum Mol Genet; 1993 Feb 29; 2(2):143-51. PubMed ID: 8499903
    [Abstract] [Full Text] [Related]

  • 14. FISH analysis in Prader-Willi and Angelman syndrome patients.
    Bettio D, Rizzi N, Giardino D, Grugni G, Briscioli V, Selicorni A, Carnevale F, Larizza L.
    Am J Med Genet; 1995 Mar 27; 56(2):224-8. PubMed ID: 7625450
    [Abstract] [Full Text] [Related]

  • 15. Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromes.
    Smith A, Prasad M, Deng ZM, Robson L, Woodage T, Trent RJ.
    Arch Dis Child; 1995 May 27; 72(5):397-402. PubMed ID: 7618904
    [Abstract] [Full Text] [Related]

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  • 17. 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 27; 7(6):e637. PubMed ID: 31033246
    [Abstract] [Full Text] [Related]

  • 18. 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 27; 6(3):387-95. PubMed ID: 9147641
    [Abstract] [Full Text] [Related]

  • 19. Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15--case report plus review of similar cases.
    Liehr T, Brude E, Gillessen-Kaesbach G, König R, Mrasek K, von Eggeling F, Starke H.
    Eur J Med Genet; 2005 Mar 27; 48(2):175-81. PubMed ID: 16053909
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