BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

589 related articles for article (PubMed ID: 7795645)

  • 1. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.
    Buiting K; Saitoh S; Gross S; Dittrich B; Schwartz S; Nicholls RD; Horsthemke B
    Nat Genet; 1995 Apr; 9(4):395-400. PubMed ID: 7795645
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 68(2):195-206. PubMed ID: 9028458
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15.
    Runte M; Färber C; Lich C; Zeschnigk M; Buchholz T; Smith A; Van Maldergem L; Bürger J; Muscatelli F; Gillessen-Kaesbach G; Horsthemke B; Buiting K
    Eur J Hum Genet; 2001 Jul; 9(7):519-26. PubMed ID: 11464243
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mouse imprinting defect mutations that model Angelman syndrome.
    Wu MY; Chen KS; Bressler J; Hou A; Tsai TF; Beaudet AL
    Genesis; 2006 Jan; 44(1):12-22. PubMed ID: 16397868
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene.
    Dittrich B; Buiting K; Korn B; Rickard S; Buxton J; Saitoh S; Nicholls RD; Poustka A; Winterpacht A; Zabel B; Horsthemke B
    Nat Genet; 1996 Oct; 14(2):163-70. PubMed ID: 8841186
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 8(1):52-8. PubMed ID: 7987392
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 72(1):117-9. PubMed ID: 9295088
    [No Abstract]   [Full Text] [Related]  

  • 9. Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.
    Clayton-Smith J; Driscoll DJ; Waters MF; Webb T; Andrews T; Malcolm S; Pembrey ME; Nicholls RD
    Am J Med Genet; 1993 Oct; 47(5):683-6. PubMed ID: 8266996
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 66(1):77-80. PubMed ID: 8957518
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Detection of imprinting mutations in Angelman syndrome using a probe for exon alpha of SNRPN.
    Beuten J; Sutcliffe JS; Casey BM; Beaudet AL; Hennekam RC; Willems PJ
    Am J Med Genet; 1996 May; 63(2):414-5. PubMed ID: 8725798
    [No Abstract]   [Full Text] [Related]  

  • 12. The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice.
    Bressler J; Tsai TF; Wu MY; Tsai SF; Ramirez MA; Armstrong D; Beaudet AL
    Nat Genet; 2001 Jul; 28(3):232-40. PubMed ID: 11431693
    [TBL] [Abstract][Full Text] [Related]  

  • 13. In and around SNRPN.
    Lalande M
    Nat Genet; 1994 Sep; 8(1):5-7. PubMed ID: 7987391
    [No Abstract]   [Full Text] [Related]  

  • 14. The imprinting box of the Prader-Willi/Angelman syndrome domain.
    Shemer R; Hershko AY; Perk J; Mostoslavsky R; Tsuberi B; Cedar H; Buiting K; Razin A
    Nat Genet; 2000 Dec; 26(4):440-3. PubMed ID: 11101841
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 5(2):94-8. PubMed ID: 9195159
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A mouse model for Prader-Willi syndrome imprinting-centre mutations.
    Yang T; Adamson TE; Resnick JL; Leff S; Wevrick R; Francke U; Jenkins NA; Copeland NG; Brannan CI
    Nat Genet; 1998 May; 19(1):25-31. PubMed ID: 9590284
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression.
    Cattanach BM; Barr JA; Evans EP; Burtenshaw M; Beechey CV; Leff SE; Brannan CI; Copeland NG; Jenkins NA; Jones J
    Nat Genet; 1992 Dec; 2(4):270-4. PubMed ID: 1303278
    [TBL] [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; 6(3):387-95. PubMed ID: 9147641
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region.
    Leff SE; Brannan CI; Reed ML; Ozçelik T; Francke U; Copeland NG; Jenkins NA
    Nat Genet; 1992 Dec; 2(4):259-64. PubMed ID: 1303276
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 30.