BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

308 related articles for article (PubMed ID: 9311744)

  • 1. Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.
    Conroy JM; Grebe TA; Becker LA; Tsuchiya K; Nicholls RD; Buiting K; Horsthemke B; Cassidy SB; Schwartz S
    Am J Hum Genet; 1997 Aug; 61(2):388-94. PubMed ID: 9311744
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 12(4):452-4. PubMed ID: 8630505
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome.
    Schüle B; Albalwi M; Northrop E; Francis DI; Rowell M; Slater HR; Gardner RJ; Francke U
    BMC Med Genet; 2005 May; 6():18. PubMed ID: 15877813
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15.
    Wirth J; Back E; Hüttenhofer A; Nothwang HG; Lich C; Gross S; Menzel C; Schinzel A; Kioschis P; Tommerup N; Ropers HH; Horsthemke B; Buiting K
    Hum Mol Genet; 2001 Feb; 10(3):201-10. PubMed ID: 11159938
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Prader-Willi syndrome is caused by disruption of the SNRPN gene.
    Kuslich CD; Kobori JA; Mohapatra G; Gregorio-King C; Donlon TA
    Am J Hum Genet; 1999 Jan; 64(1):70-6. PubMed ID: 9915945
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient.
    Sun Y; Nicholls RD; Butler MG; Saitoh S; Hainline BE; Palmer CG
    Hum Mol Genet; 1996 Apr; 5(4):517-24. PubMed ID: 8845846
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Spread of X-chromosome inactivation into chromosome 15 is associated with Prader-Willi syndrome phenotype in a boy with a t(X;15)(p21.1;q11.2) translocation.
    Sakazume S; Ohashi H; Sasaki Y; Harada N; Nakanishi K; Sato H; Emi M; Endoh K; Sohma R; Kido Y; Nagai T; Kubota T
    Hum Genet; 2012 Jan; 131(1):121-30. PubMed ID: 21735174
    [TBL] [Abstract][Full Text] [Related]  

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

  • 10. Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).
    Nakao M; Sutcliffe JS; Durtschi B; Mutirangura A; Ledbetter DH; Beaudet AL
    Hum Mol Genet; 1994 Feb; 3(2):309-15. PubMed ID: 8004100
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [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; 41(6):453-6. PubMed ID: 14749005
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects.
    Hassan M; Butler MG
    Eur J Med Genet; 2016 Nov; 59(11):584-589. PubMed ID: 27659713
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.
    Sahoo T; del Gaudio D; German JR; Shinawi M; Peters SU; Person RE; Garnica A; Cheung SW; Beaudet AL
    Nat Genet; 2008 Jun; 40(6):719-21. PubMed ID: 18500341
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The genetic basis for Prader-Willi syndrome: the importance of imprinted genes.
    Brøndum-Nielsen K
    Acta Paediatr Suppl; 1997 Nov; 423():55-7. PubMed ID: 9401540
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular markers for diagnosis of Prader-Willi syndrome in thai patients by fish.
    Wiriyaukaradecha S; Patmasiriwat P; Wasant P; Tantiniti P
    Southeast Asian J Trop Med Public Health; 2003 Dec; 34(4):881-6. PubMed ID: 15115105
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 3(4):321-32. PubMed ID: 9237260
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome.
    Tsai TF; Jiang YH; Bressler J; Armstrong D; Beaudet AL
    Hum Mol Genet; 1999 Aug; 8(8):1357-64. PubMed ID: 10400982
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprinting.
    Ming JE; Blagowidow N; Knoll JH; Rollings L; Fortina P; McDonald-McGinn DM; Spinner NB; Zackai EH
    Am J Med Genet; 2000 May; 92(1):19-24. PubMed ID: 10797418
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15).
    Varela MC; Lopes GM; Koiffmann CP
    Ann Genet; 2004; 47(3):267-73. PubMed ID: 15337472
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Structure and function correlations at the imprinted mouse Snrpn locus.
    Gabriel JM; Gray TA; Stubbs L; Saitoh S; Ohta T; Nicholls RD
    Mamm Genome; 1998 Oct; 9(10):788-93. PubMed ID: 9745031
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.