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Items: 1 to 20 of 211

1.

Imprinting-mutation mechanisms in Prader-Willi syndrome.

Ohta T, Gray TA, Rogan PK, Buiting K, Gabriel JM, Saitoh S, Muralidhar B, Bilienska B, Krajewska-Walasek M, Driscoll DJ, Horsthemke B, Butler MG, Nicholls RD.

Am J Hum Genet. 1999 Feb;64(2):397-413.

2.

Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

Saitoh S, Buiting K, Rogan PK, Buxton JL, Driscoll DJ, Arnemann J, König R, Malcolm S, Horsthemke B, Nicholls RD.

Proc Natl Acad Sci U S A. 1996 Jul 23;93(15):7811-5.

3.

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
4.

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.

5.

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 20;68(2):195-206.

PMID:
9028458
6.

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.

7.

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
8.
9.

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. Erratum in: Nat Genet 1995 Jun;10(2):249.

PMID:
7795645
10.

Identification of a silencing element in the human 15q11-q13 imprinting center by using transgenic Drosophila.

Lyko F, Buiting K, Horsthemke B, Paro R.

Proc Natl Acad Sci U S A. 1998 Feb 17;95(4):1698-702.

11.

De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch.

Bielinska B, Blaydes SM, Buiting K, Yang T, Krajewska-Walasek M, Horsthemke B, Brannan CI.

Nat Genet. 2000 May;25(1):74-8. Erratum in: Nat Genet 2000 Jun;25(2):241.

PMID:
10802660
12.

Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.

Glenn CC, Saitoh S, Jong MT, Filbrandt MM, Surti U, Driscoll DJ, Nicholls RD.

Am J Hum Genet. 1996 Feb;58(2):335-46.

14.

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

Buiting K, Dittrich B, Gross S, Lich C, Färber C, Buchholz T, Smith E, Reis A, Bürger J, Nöthen MM, Barth-Witte U, Janssen B, Abeliovich D, Lerer I, van den Ouweland AM, Halley DJ, Schrander-Stumpel C, Smeets H, Meinecke P, Malcolm S, Gardner A, Lalande M, Nicholls RD, Friend K, Schulze A, Matthijs G, Kokkonen H, Hilbert P, Van Maldergem L, Glover G, Carbonell P, Willems P, Gillessen-Kaesbach G, Horsthemke B.

Am J Hum Genet. 1998 Jul;63(1):170-80.

15.

[Prader-Willi syndrome and genomic imprinting].

Wang W, Wang DF, Cui YF, Ni JH, Dong ZY, Fu MF, Fu HM, Lu GQ, Chen FS.

Zhonghua Er Ke Za Zhi. 2003 Jun;41(6):453-6. Chinese.

PMID:
14749005
16.

An unexpected function of the Prader-Willi syndrome imprinting center in maternal imprinting in mice.

Wu MY, Jiang M, Zhai X, Beaudet AL, Wu RC.

PLoS One. 2012;7(4):e34348. doi: 10.1371/journal.pone.0034348.

17.

Highest accuracy of combined consensus clinical criteria and SNRPN gene molecular markers in diagnosis of Prader-Willi syndrome in Thai patients.

Promkan M, Teingtat S, Stheinkijkarnchai A, Wasant P, Patmasiriwat P.

Clin Chem Lab Med. 2007;45(8):972-80.

PMID:
17867985
18.

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.

PMID:
7987392
19.

Regulatory elements associated with paternally-expressed genes in the imprinted murine Angelman/Prader-Willi syndrome domain.

Rodriguez-Jato S, Shan J, Khadake J, Heggestad AD, Ma X, Johnstone KA, Resnick JL, Yang TP.

PLoS One. 2013;8(2):e52390. doi: 10.1371/journal.pone.0052390.

20.
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