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Items: 1 to 20 of 133

1.

Parent-of-origin testing for 15q11-q13 gains by quantitative DNA methylation analysis.

Askree SH, Dharamrup S, Hjelm LN, Coffee B.

J Mol Diagn. 2012 May-Jun;14(3):192-8. doi: 10.1016/j.jmoldx.2012.01.005. Epub 2012 Mar 14.

PMID:
22426236
2.

Allelic dropout can cause false-positive results for Prader-Willi and Angelman syndrome testing.

Hussain Askree S, Hjelm LN, Ali Pervaiz M, Adam M, Bean LJ, Hedge M, Coffee B.

J Mol Diagn. 2011 Jan;13(1):108-12. doi: 10.1016/j.jmoldx.2010.11.006. Epub 2010 Dec 23.

3.

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.

PMID:
9147641
4.
5.

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. Erratum in: J Med Genet 2000 May;37(5):399.

6.

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13.

Dittrich B, Robinson WP, Knoblauch H, Buiting K, Schmidt K, Gillessen-Kaesbach G, Horsthemke B.

Hum Genet. 1992 Nov;90(3):313-5.

PMID:
1487250
7.
8.

A modified MS-PCR approach to diagnose patients with Prader-Willi and Angelman syndrome.

Dos Santos JF, Mota LR, Rocha PH, Ferreira de Lima RL.

Mol Biol Rep. 2016 Nov;43(11):1221-1225. Epub 2016 Aug 17.

PMID:
27535666
9.

R-loop formation at Snord116 mediates topotecan inhibition of Ube3a-antisense and allele-specific chromatin decondensation.

Powell WT, Coulson RL, Gonzales ML, Crary FK, Wong SS, Adams S, Ach RA, Tsang P, Yamada NA, Yasui DH, Ch├ędin F, LaSalle JM.

Proc Natl Acad Sci U S A. 2013 Aug 20;110(34):13938-43. doi: 10.1073/pnas.1305426110. Epub 2013 Aug 5.

10.

Influence of the Prader-Willi syndrome imprinting center on the DNA methylation landscape in the mouse brain.

Brant JO, Riva A, Resnick JL, Yang TP.

Epigenetics. 2014 Nov;9(11):1540-56. doi: 10.4161/15592294.2014.969667.

12.

Quantitative and qualitative analyses of the SNRPN gene using real-time PCR with melting curve analysis.

Hung CC, Lin SY, Lin SP, Chen CP, Chen LY, Lee CN, Su YN.

J Mol Diagn. 2011 Nov;13(6):609-13. doi: 10.1016/j.jmoldx.2011.06.005. Epub 2011 Sep 1.

13.

Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader-Willi/Angelman syndrome critical region.

Aypar U, Brodersen PR, Lundquist PA, Dawson DB, Thorland EC, Hoppman N.

Am J Med Genet A. 2014 Oct;164A(10):2514-20. doi: 10.1002/ajmg.a.36663. Epub 2014 Jun 26.

PMID:
24975781
14.

Mechanisms of imprinting of the Prader-Willi/Angelman region.

Horsthemke B, Wagstaff J.

Am J Med Genet A. 2008 Aug 15;146A(16):2041-52. doi: 10.1002/ajmg.a.32364. Review.

PMID:
18627066
15.

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. Review.

PMID:
9237260
16.

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 19;73(3):308-13.

PMID:
9415690
17.

Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region.

Jiang YH, Wauki K, Liu Q, Bressler J, Pan Y, Kashork CD, Shaffer LG, Beaudet AL.

BMC Genomics. 2008 Jan 28;9:50. doi: 10.1186/1471-2164-9-50.

18.

Referral diagnosis of Prader-Willi syndrome and Angelman syndrome based on methylation-specific polymerase chain reaction.

Teng YN, Tsai WH, Wu CJ, Lin SJ, Chen YJ, Kuo PL.

J Formos Med Assoc. 2002 Jul;101(7):488-94.

PMID:
12353341
19.

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.

20.

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.

Ramsden SC, Clayton-Smith J, Birch R, Buiting K.

BMC Med Genet. 2010 May 11;11:70. doi: 10.1186/1471-2350-11-70.

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