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Items: 1 to 20 of 168

1.

Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15.

Sharp AJ, Migliavacca E, Dupre Y, Stathaki E, Sailani MR, Baumer A, Schinzel A, Mackay DJ, Robinson DO, Cobellis G, Cobellis L, Brunner HG, Steiner B, Antonarakis SE.

Genome Res. 2010 Sep;20(9):1271-8. doi: 10.1101/gr.108597.110. Epub 2010 Jul 14.

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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.

6.

Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation.

Calounova G, Novotna D, Simandlova M, Havlovicova M, Zumrová A, Kocarek E, Sedlacek Z.

Neuro Endocrinol Lett. 2006 Oct;27(5):579-85.

PMID:
17159828
7.

Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes.

Nakabayashi K, Trujillo AM, Tayama C, Camprubi C, Yoshida W, Lapunzina P, Sanchez A, Soejima H, Aburatani H, Nagae G, Ogata T, Hata K, Monk D.

Hum Mol Genet. 2011 Aug 15;20(16):3188-97. doi: 10.1093/hmg/ddr224. Epub 2011 May 18.

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.

PMID:
8630505
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Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7.

Hannula-Jouppi K, Muurinen M, Lipsanen-Nyman M, Reinius LE, Ezer S, Greco D, Kere J.

Epigenetics. 2014 Mar;9(3):351-65. doi: 10.4161/epi.27160. Epub 2013 Nov 18.

12.

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.

13.

Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.

Izumi K, Santani AB, Deardorff MA, Feret HA, Tischler T, Thiel BD, Mulchandani S, Stolle CA, Spinner NB, Zackai EH, Conlin LK.

Am J Med Genet A. 2013 Jan;161A(1):166-71. doi: 10.1002/ajmg.a.35625. Epub 2012 Dec 7.

PMID:
23225330
14.

DNA methylation patterns in human tissues of uniparental origin using a zinc-finger gene (ZNF127) from the Angelman/Prader-Willi region.

Mowery-Rushton PA, Driscoll DJ, Nicholls RD, Locker J, Surti U.

Am J Med Genet. 1996 Jan 11;61(2):140-6.

PMID:
8669440
15.

Why is there no diploid overdose effect in Prader-Willi syndrome due to uniparental disomy?

Smith A.

Acta Genet Med Gemellol (Roma). 1996;45(1-2):179-89. Review.

PMID:
8872029
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.

17.

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. doi: 10.1007/s00439-011-1051-4. Epub 2011 Jul 7.

PMID:
21735174
18.

Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes.

Horsthemke B, Nazlican H, Hüsing J, Klein-Hitpass L, Claussen U, Michel S, Lich C, Gillessen-Kaesbach G, Buiting K.

Hum Mol Genet. 2003 Oct 15;12(20):2723-32. Epub 2003 Aug 27.

19.

A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes.

Driscoll DJ, Waters MF, Williams CA, Zori RT, Glenn CC, Avidano KM, Nicholls RD.

Genomics. 1992 Aug;13(4):917-24.

PMID:
1505981
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.

PMID:
9745031
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