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Items: 1 to 20 of 141

1.

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.

PMID:
17236194
2.

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.

3.

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.

PMID:
17036336
4.

Analysis of imprinted genes in subjects with Prader-Willi syndrome and chromosome 15 abnormalities.

Muralidhar B, Marney A, Butler MG.

Genet Med. 1999 May-Jun;1(4):141-5.

PMID:
11258349
5.

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.

6.

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.

PMID:
16982806
8.

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.

9.
10.

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
12.

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
13.

Mosaic isochromosome 15q and maternal uniparental isodisomy for chromosome 15 in a patient with morbid obesity and variant PWS-like phenotype.

Wang JC, Vaccarello-Cruz M, Ross L, Owen R, Pratt VM, Lightman K, Liu Y, Hafezi K, Cherif D, Sahoo T.

Am J Med Genet A. 2013 Jul;161A(7):1695-701. doi: 10.1002/ajmg.a.35939. Epub 2013 May 17.

PMID:
23686718
14.

A 9-year-old male with a duplication of chromosome 3p25.3p26.2: clinical report and gene expression analysis.

Bittel DC, Kibiryeva N, Dasouki M, Knoll JH, Butler MG.

Am J Med Genet A. 2006 Mar 15;140(6):573-9.

15.

Combined cytogenetic and molecular analyses for the diagnosis of Prader-Willi/Angelman syndromes.

Borelina D, Engel N, Esperante S, Ferreiro V, Ferrer M, Torrado M, Goldschmidt E, Francipane L, Szijan I.

J Biochem Mol Biol. 2004 Sep 30;37(5):522-6.

16.
17.

Assessment of SNRPN expression as a molecular tool in the diagnosis of Prader-Willi syndrome.

Carrel AL, Huber S, Allen DB, Voelkerding KV.

Mol Diagn. 1999 Mar;4(1):5-10.

PMID:
10229769
18.

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
19.

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.

Duker AL, Ballif BC, Bawle EV, Person RE, Mahadevan S, Alliman S, Thompson R, Traylor R, Bejjani BA, Shaffer LG, Rosenfeld JA, Lamb AN, Sahoo T.

Eur J Hum Genet. 2010 Nov;18(11):1196-201. doi: 10.1038/ejhg.2010.102. Epub 2010 Jun 30.

20.

Identification of a novel paternally expressed gene in the Prader-Willi syndrome region.

Wevrick R, Kerns JA, Francke U.

Hum Mol Genet. 1994 Oct;3(10):1877-82.

PMID:
7849716
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