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Results: 1 to 20 of 120

1.

Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype.

Anderlid BM, Lundin J, Malmgren H, Lehtihet M, Nordgren A.

Am J Med Genet A. 2014 Feb;164A(2):425-31. doi: 10.1002/ajmg.a.36307. Epub 2013 Dec 5. Review.

PMID:
24311433
[PubMed - indexed for MEDLINE]
2.

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.

PMID:
20588305
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome.

Schüle B, Albalwi M, Northrop E, Francis DI, Rowell M, Slater HR, Gardner RJ, Francke U.

BMC Med Genet. 2005 May 6;6:18.

PMID:
15877813
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A.

Runte M, Hüttenhofer A, Gross S, Kiefmann M, Horsthemke B, Buiting K.

Hum Mol Genet. 2001 Nov 1;10(23):2687-700.

PMID:
11726556
[PubMed - indexed for MEDLINE]
Free Article
5.

Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome.

Gallagher RC, Pils B, Albalwi M, Francke U.

Am J Hum Genet. 2002 Sep;71(3):669-78. Epub 2002 Jul 31.

PMID:
12154412
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.

Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL.

Nat Genet. 2008 Jun;40(6):719-21. doi: 10.1038/ng.158. Epub 2008 May 25.

PMID:
18500341
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome.

Runte M, Varon R, Horn D, Horsthemke B, Buiting K.

Hum Genet. 2005 Feb;116(3):228-30. Epub 2004 Nov 23.

PMID:
15565282
[PubMed - indexed for MEDLINE]
8.

The SNORD115 (H/MBII-52) and SNORD116 (H/MBII-85) gene clusters at the imprinted Prader-Willi locus generate canonical box C/D snoRNAs.

Bortolin-Cavaillé ML, Cavaillé J.

Nucleic Acids Res. 2012 Aug;40(14):6800-7. doi: 10.1093/nar/gks321. Epub 2012 Apr 11.

PMID:
22495932
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria.

Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB.

Pediatrics. 2001 Nov;108(5):E92.

PMID:
11694676
[PubMed - indexed for MEDLINE]
10.

Prader-Willi syndrome: clinical and molecular cytogenetic investigations.

Hou JW, Wang TR.

J Formos Med Assoc. 1996 Jun;95(6):474-9.

PMID:
8772055
[PubMed - indexed for MEDLINE]
11.

Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models.

Ding F, Prints Y, Dhar MS, Johnson DK, Garnacho-Montero C, Nicholls RD, Francke U.

Mamm Genome. 2005 Jun;16(6):424-31.

PMID:
16075369
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
Free Article
13.

Molecular diagnosis of Prader-Willi syndrome.

Pangkanon S.

J Med Assoc Thai. 2003 Aug;86 Suppl 3:S510-6.

PMID:
14700141
[PubMed - indexed for MEDLINE]
14.

Low level of mosaicism in atypical Prader Willi syndrome: detection using fluorescent in situ hybridization.

Chaddha V, Agarwal S, Phadke SR, Halder A.

Indian Pediatr. 2003 Feb;40(2):166-8.

PMID:
12626835
[PubMed - indexed for MEDLINE]
15.

Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.

Conroy JM, Grebe TA, Becker LA, Tsuchiya K, Nicholls RD, Buiting K, Horsthemke B, Cassidy SB, Schwartz S.

Am J Hum Genet. 1997 Aug;61(2):388-94.

PMID:
9311744
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Genetic abnormalities in Prader-Willi syndrome and lessons from mouse models.

Nicholls RD, Ohta T, Gray TA.

Acta Paediatr Suppl. 1999 Dec;88(433):99-104. Review.

PMID:
10626556
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

An interstitial 15q11-q14 deletion: expanded Prader-Willi syndrome phenotype.

Butler MG, Bittel DC, Kibiryeva N, Cooley LD, Yu S.

Am J Med Genet A. 2010 Feb;152A(2):404-8. doi: 10.1002/ajmg.a.33197. Erratum in: Am J Med Genet A. 2010 May;152A(5):1331-2.

PMID:
20082457
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome.

Kubota T, Sutcliffe JS, Aradhya S, Gillessen-Kaesbach G, Christian SL, Horsthemke B, Beaudet AL, Ledbetter DH.

Am J Med Genet. 1996 Dec 2;66(1):77-80.

PMID:
8957518
[PubMed - indexed for MEDLINE]
20.

Prader-Willi syndrome: genetic tests and clinical findings.

Fridman C, Varela MC, Kok F, Setian N, Koiffmann CP.

Genet Test. 2000;4(4):387-92.

PMID:
11216664
[PubMed - indexed for MEDLINE]

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