BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

590 related articles for article (PubMed ID: 8266996)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. [Methylation-specific multiplex ligation-dependent probe amplification in diagnosis of Prader-Willi syndrome and Angelman syndrome].
    Li MR; Wang XZ; Liu XY; Yang YL; Bao XH; Zhang YH; Xiong H; Zhong N; Qin J; Wu XR; Pan H
    Zhonghua Yi Xue Za Zhi; 2008 Dec; 88(46):3257-61. PubMed ID: 19159549
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review.
    Nicholls RD
    Am J Med Genet; 1993 Apr; 46(1):16-25. PubMed ID: 8388169
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromes.
    Flori E; Biancalana V; Girard-Lemaire F; Favre R; Flori J; Doray B; Mandel JL
    Eur J Hum Genet; 2004 Mar; 12(3):181-6. PubMed ID: 14694357
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Characterization of a DNA sequence family in the Prader-Willi/Angelman syndrome chromosome region in 15q11-q13.
    Dittrich B; Knoblauch H; Buiting K; Horsthemke B
    Genomics; 1993 Apr; 16(1):269-71. PubMed ID: 8486372
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment.
    Murthy SK; Nygren AO; El Shakankiry HM; Schouten JP; Al Khayat AI; Ridha A; Al Ali MT
    Cytogenet Genome Res; 2007; 116(1-2):135-40. PubMed ID: 17268193
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients.
    Glenn CC; Nicholls RD; Robinson WP; Saitoh S; Niikawa N; Schinzel A; Horsthemke B; Driscoll DJ
    Hum Mol Genet; 1993 Sep; 2(9):1377-82. PubMed ID: 8242060
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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; 56(2):224-8. PubMed ID: 7625450
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
    Depienne C; Moreno-De-Luca D; Heron D; Bouteiller D; Gennetier A; Delorme R; Chaste P; Siffroi JP; Chantot-Bastaraud S; Benyahia B; Trouillard O; Nygren G; Kopp S; Johansson M; Rastam M; Burglen L; Leguern E; Verloes A; Leboyer M; Brice A; Gillberg C; Betancur C
    Biol Psychiatry; 2009 Aug; 66(4):349-59. PubMed ID: 19278672
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman syndrome.
    Delach JA; Rosengren SS; Kaplan L; Greenstein RM; Cassidy SB; Benn PA
    Am J Med Genet; 1994 Aug; 52(1):85-91. PubMed ID: 7977469
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 19(1):170-2. PubMed ID: 8188222
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes.
    Camprubí C; Coll MD; Villatoro S; Gabau E; Kamli A; Martínez MJ; Poyatos D; Guitart M
    Eur J Med Genet; 2007; 50(1):11-20. PubMed ID: 17095305
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Prenatal diagnosis of chromosome 15 abnormalities in the Prader-Willi/Angelman syndrome region by traditional and molecular cytogenetics.
    Toth-Fejel S; Magenis RE; Leff S; Brown MG; Comegys B; Lawce H; Berry T; Kesner D; Webb MJ; Olson S
    Am J Med Genet; 1995 Feb; 55(4):444-52. PubMed ID: 7762584
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Detection of molecular rearrangements in Prader-Willi syndrome patients by using genomic probes recognizing four loci within the PWCR.
    Gregory CA; Kirkilionis AJ; Greenberg CR; Chudley AE; Hamerton JL
    Am J Med Genet; 1990 Apr; 35(4):536-45. PubMed ID: 1970703
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11-q13.
    Spinner NB; Zackai E; Cheng SD; Knoll JH
    Am J Med Genet; 1995 May; 57(1):61-5. PubMed ID: 7645601
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 30.