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Items: 1 to 20 of 199

1.

Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD.

Bittel DC, Kibiryeva N, Talebizadeh Z, Butler MG.

J Med Genet. 2003 Aug;40(8):568-74.

2.

Whole genome microarray analysis of gene expression in Prader-Willi syndrome.

Bittel DC, Kibiryeva N, Sell SM, Strong TV, Butler MG.

Am J Med Genet A. 2007 Mar 1;143A(5):430-42.

3.

A girl with incomplete Prader-Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array.

Morandi A, Bonnefond A, Lobbens S, Carotenuto M, Del Giudice EM, Froguel P, Maffeis C.

Am J Med Genet A. 2015 Nov;167A(11):2720-6. doi: 10.1002/ajmg.a.37222. Epub 2015 Jun 24.

PMID:
26109092
4.

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
5.

Whole genome microarray analysis of gene expression in an imprinting center deletion mouse model of Prader-Willi syndrome.

Bittel DC, Kibiryeva N, McNulty SG, Driscoll DJ, Butler MG, White RA.

Am J Med Genet A. 2007 Mar 1;143A(5):422-9.

7.

[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
9.

Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD.

Bittel DC, Kibiryeva N, Talebizadeh Z, Driscoll DJ, Butler MG.

Genomics. 2005 Jan;85(1):85-91.

PMID:
15607424
10.

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.

11.

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
12.

De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome.

Burrage LC, Person RE, Flores A, Villanos MT, Bi W, Wiszniewska J, Bacino CA.

Am J Med Genet A. 2012 Oct;158A(10):2557-63. doi: 10.1002/ajmg.a.35549. Epub 2012 Aug 17.

PMID:
22903639
13.

Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype.

Milner KM, Craig EE, Thompson RJ, Veltman MW, Thomas NS, Roberts S, Bellamy M, Curran SR, Sporikou CM, Bolton PF.

J Child Psychol Psychiatry. 2005 Oct;46(10):1089-96.

PMID:
16178933
14.

Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome.

Zilina O, Kahre T, Talvik I, Oiglane-Shlik E, Tillmann V, Ounap K.

Eur J Med Genet. 2014 May-Jun;57(6):279-83. doi: 10.1016/j.ejmg.2014.03.007. Epub 2014 Apr 2.

PMID:
24704109
15.

Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome.

Bittel DC, Kibiryeva N, Butler MG.

Pediatrics. 2006 Oct;118(4):e1276-83. Epub 2006 Sep 18.

17.

Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology.

Bittel DC, Butler MG.

Expert Rev Mol Med. 2005 Jul 25;7(14):1-20. Review.

PMID:
16038620
18.

Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15--case report plus review of similar cases.

Liehr T, Brude E, Gillessen-Kaesbach G, K├Ânig R, Mrasek K, von Eggeling F, Starke H.

Eur J Med Genet. 2005 Apr-Jun;48(2):175-81. Epub 2005 Feb 17. Review.

PMID:
16053909
19.

Unique maternal deletion of 15q in a patient with some symptoms of Prader-Willi syndrome.

Ninomiya S, Yokoyama Y, Kawakami M, Une T, Maruyama H, Morishima T.

Pediatr Int. 2005 Oct;47(5):541-5.

PMID:
16190961
20.

Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects.

Hassan M, Butler MG.

Eur J Med Genet. 2016 Nov;59(11):584-589. doi: 10.1016/j.ejmg.2016.09.017. Epub 2016 Sep 19.

PMID:
27659713

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