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2. 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]
3. The feasibility of PCR-based diagnosis of Prader-Willi and Angelman syndromes using restriction analysis after bisulfite modification of genomic DNA. Velinov M; Gu H; Genovese M; Duncan C; Brown WT; Jenkins E Mol Genet Metab; 2000 Jan; 69(1):81-3. PubMed ID: 10655162 [TBL] [Abstract][Full Text] [Related]
4. 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]
5. A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms. Baumer A; Wiedemann U; Hergersberg M; Schinzel A Hum Mutat; 2001 May; 17(5):423-30. PubMed ID: 11317358 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method. Kosaki K; McGinniss MJ; Veraksa AN; McGinnis WJ; Jones KL Am J Med Genet; 1997 Dec; 73(3):308-13. PubMed ID: 9415690 [TBL] [Abstract][Full Text] [Related]
8. 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]
10. 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]
11. In and around SNRPN. Lalande M Nat Genet; 1994 Sep; 8(1):5-7. PubMed ID: 7987391 [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. [Molecular diagnosis of Prader-Willi and Angelman syndromes: methylation, cytogenetics and FISH analysis]. Santa María L; Curotto B; Cortés F; Rojas C; Alliende MA Rev Med Chil; 2001 Apr; 129(4):367-74. PubMed ID: 11413988 [TBL] [Abstract][Full Text] [Related]
14. High-resolution melting for accurate assessment of DNA methylation. Dahl C; Guldberg P Clin Chem; 2007 Nov; 53(11):1877-8. PubMed ID: 17954495 [No Abstract] [Full Text] [Related]
15. 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; 52(6):1005-13. PubMed ID: 16574761 [TBL] [Abstract][Full Text] [Related]
16. 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; 33(12):1011-4. PubMed ID: 9004133 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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 [TBL] [Abstract][Full Text] [Related]
20. DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting. Glenn CC; Deng G; Michaelis RC; Tarleton J; Phelan MC; Surh L; Yang TP; Driscoll DJ Prenat Diagn; 2000 Apr; 20(4):300-6. PubMed ID: 10740202 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]