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Items: 15

1.

SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice.

Ding F, Li HH, Zhang S, Solomon NM, Camper SA, Cohen P, Francke U.

PLoS One. 2008 Mar 5;3(3):e1709. doi: 10.1371/journal.pone.0001709.

2.

Deletion of the MBII-85 snoRNA gene cluster in mice results in postnatal growth retardation.

Skryabin BV, Gubar LV, Seeger B, Pfeiffer J, Handel S, Robeck T, Karpova E, Rozhdestvensky TS, Brosius J.

PLoS Genet. 2007 Dec 28;3(12):e235. doi: 10.1371/journal.pgen.0030235.

3.

The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C.

Kishore S, Stamm S.

Science. 2006 Jan 13;311(5758):230-2. Epub 2005 Dec 15.

4.

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.

5.

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
6.

Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome.

Bürger J, Horn D, Tönnies H, Neitzel H, Reis A.

Am J Med Genet. 2002 Aug 15;111(3):233-7.

PMID:
12210318
7.

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.

8.

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.

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
10.

A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15.

Wirth J, Back E, Hüttenhofer A, Nothwang HG, Lich C, Gross S, Menzel C, Schinzel A, Kioschis P, Tommerup N, Ropers HH, Horsthemke B, Buiting K.

Hum Mol Genet. 2001 Feb 1;10(3):201-10.

12.

Prader-Willi syndrome is caused by disruption of the SNRPN gene.

Kuslich CD, Kobori JA, Mohapatra G, Gregorio-King C, Donlon TA.

Am J Hum Genet. 1999 Jan;64(1):70-6.

13.

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.

14.

Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient.

Sun Y, Nicholls RD, Butler MG, Saitoh S, Hainline BE, Palmer CG.

Hum Mol Genet. 1996 Apr;5(4):517-24.

15.

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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