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Journal Abstract Search

403 related items for PubMed ID: 7849716

  • 21. The human gene for the poly(A)-specific ribonuclease (PARN) maps to 16p13 and has a truncated copy in the Prader-Willi/Angelman syndrome region on 15q11-->q13.
    Buiting K, Körner C, Ulrich B, Wahle E, Horsthemke B.
    Cytogenet Cell Genet; 1999; 87(1-2):125-31. PubMed ID: 10640832
    [Abstract] [Full Text] [Related]

  • 22. 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]

  • 23. A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.
    Chotai KA, Payne SJ.
    J Med Genet; 1998 Jun 20; 35(6):472-5. PubMed ID: 9643288
    [Abstract] [Full Text] [Related]

  • 24. 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 20; 2(2):143-51. PubMed ID: 8499903
    [Abstract] [Full Text] [Related]

  • 25. Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.
    Glenn CC, Saitoh S, Jong MT, Filbrandt MM, Surti U, Driscoll DJ, Nicholls RD.
    Am J Hum Genet; 1996 Feb 20; 58(2):335-46. PubMed ID: 8571960
    [Abstract] [Full Text] [Related]

  • 26. The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region.
    Sutcliffe JS, Jiang YH, Galijaard RJ, Matsuura T, Fang P, Kubota T, Christian SL, Bressler J, Cattanach B, Ledbetter DH, Beaudet AL.
    Genome Res; 1997 Apr 20; 7(4):368-77. PubMed ID: 9110176
    [Abstract] [Full Text] [Related]

  • 27. Imprinted genes in the Prader-Willi deletion.
    Francke U.
    Novartis Found Symp; 1998 Apr 20; 214():264-75; discussion 275-9. PubMed ID: 9601023
    [Abstract] [Full Text] [Related]

  • 28. An unexpected function of the Prader-Willi syndrome imprinting center in maternal imprinting in mice.
    Wu MY, Jiang M, Zhai X, Beaudet AL, Wu RC.
    PLoS One; 2012 Apr 20; 7(4):e34348. PubMed ID: 22496793
    [Abstract] [Full Text] [Related]

  • 29.
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  • 30. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region.
    Sutcliffe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, Ledbetter DH, Beaudet AL.
    Nat Genet; 1994 Sep 20; 8(1):52-8. PubMed ID: 7987392
    [Abstract] [Full Text] [Related]

  • 31. Physical mapping studies at D15S10: implications for candidate gene identification in the Angelman syndrome/Prader-Willi syndrome chromosome region of 15q11-q13.
    Woodage T, Lindeman R, Deng ZM, Fimmel A, Smith A, Trent RJ.
    Genomics; 1994 Jan 01; 19(1):170-2. PubMed ID: 8188222
    [Abstract] [Full Text] [Related]

  • 32. Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region.
    Ozçelik T, Leff S, Robinson W, Donlon T, Lalande M, Sanjines E, Schinzel A, Francke U.
    Nat Genet; 1992 Dec 01; 2(4):265-9. PubMed ID: 1303277
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  • 33.
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  • 34. Genetic abnormalities in Prader-Willi syndrome and lessons from mouse models.
    Nicholls RD, Ohta T, Gray TA.
    Acta Paediatr Suppl; 1999 Dec 01; 88(433):99-104. PubMed ID: 10626556
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  • 36. Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome.
    Gallagher RC, Pils B, Albalwi M, Francke U.
    Am J Hum Genet; 2002 Sep 01; 71(3):669-78. PubMed ID: 12154412
    [Abstract] [Full Text] [Related]

  • 37. Prader-Willi syndrome and Angelman syndrome.
    Buiting K.
    Am J Med Genet C Semin Med Genet; 2010 Aug 15; 154C(3):365-76. PubMed ID: 20803659
    [Abstract] [Full Text] [Related]

  • 38. Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome.
    Bittel DC, Kibiryeva N, Butler MG.
    Pediatrics; 2006 Oct 15; 118(4):e1276-83. PubMed ID: 16982806
    [Abstract] [Full Text] [Related]

  • 39. A genetic model for the Prader-Willi syndrome and its implication for Angelman syndrome.
    Kennerknecht I.
    Hum Genet; 1992 Oct 15; 90(1-2):91-8. PubMed ID: 1427794
    [Abstract] [Full Text] [Related]

  • 40. [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 15; 41(6):453-6. PubMed ID: 14749005
    [Abstract] [Full Text] [Related]

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