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Journal Abstract Search

197 related items for PubMed ID: 8755930

  • 1. Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy.
    White LM, Rogan PK, Nicholls RD, Wu BL, Korf B, Knoll JH.
    Am J Hum Genet; 1996 Aug; 59(2):423-30. PubMed ID: 8755930
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 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
    [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. Methylation analysis at three different loci within the imprinted region of chromosome 15q11-13.
    Buchholz T, Jackson J, Smith A.
    Am J Med Genet; 1997 Oct 03; 72(1):117-9. PubMed ID: 9295088
    [No Abstract] [Full Text] [Related]

  • 6. 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 03; 52(6):1005-13. PubMed ID: 16574761
    [Abstract] [Full Text] [Related]

  • 7. In vivo nuclease hypersensitivity studies reveal multiple sites of parental origin-dependent differential chromatin conformation in the 150 kb SNRPN transcription unit.
    Schweizer J, Zynger D, Francke U.
    Hum Mol Genet; 1999 Apr 03; 8(4):555-66. PubMed ID: 10072422
    [Abstract] [Full Text] [Related]

  • 8. Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis.
    Kubota T, Aradhya S, Macha M, Smith AC, Surh LC, Satish J, Verp MS, Nee HL, Johnson A, Christan SL, Ledbetter DH.
    J Med Genet; 1996 Dec 03; 33(12):1011-4. PubMed ID: 9004133
    [Abstract] [Full Text] [Related]

  • 9. 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 03; 53(11):1960-2. PubMed ID: 17890436
    [Abstract] [Full Text] [Related]

  • 10. Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint.
    Schulze A, Hansen C, Skakkebaek NE, Brøndum-Nielsen K, Ledbeter DH, Tommerup N.
    Nat Genet; 1996 Apr 03; 12(4):452-4. PubMed ID: 8630505
    [Abstract] [Full Text] [Related]

  • 11. 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 03; 3(4):321-32. PubMed ID: 9237260
    [Abstract] [Full Text] [Related]

  • 12. 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 Apr 03; 5(2):94-8. PubMed ID: 9195159
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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]

  • 15. 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 02; 52(7):1276-83. PubMed ID: 16690734
    [Abstract] [Full Text] [Related]

  • 16. [Prader-Willi syndrome and genomic imprinting].
    Wang W, Wang DF, Cui YF, Ni JH, Dong ZY, Fu MF, Fu HM, Lu GQ, Chen FS.
    Zhonghua Er Ke Za Zhi; 2003 Jun 02; 41(6):453-6. PubMed ID: 14749005
    [Abstract] [Full Text] [Related]

  • 17. Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications.
    Buiting K, Dittrich B, Robinson WP, Guitart M, Abeliovich D, Lerer I, Horsthemke B.
    Hum Mol Genet; 1994 Jun 02; 3(6):893-5. PubMed ID: 7951232
    [Abstract] [Full Text] [Related]

  • 18. 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 02; 182(10):2442-2449. PubMed ID: 32815268
    [Abstract] [Full Text] [Related]

  • 19. 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 02; 66(2):104690. PubMed ID: 36587803
    [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 02; 43(11):1221-1225. PubMed ID: 27535666
    [Abstract] [Full Text] [Related]

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