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Items: 1 to 20 of 278

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
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.

3.

A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype.

Cao Y, AlHumaidi SS, Faqeih EA, Pitel BA, Lundquist P, Aypar U.

Eur J Med Genet. 2017 Aug;60(8):416-420. doi: 10.1016/j.ejmg.2017.05.003. Epub 2017 May 26.

PMID:
28554868
4.

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
5.

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.

6.

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
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.

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.

9.

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
10.

SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly.

Fontana P, Grasso M, Acquaviva F, Gennaro E, Galli ML, Falco M, Scarano F, Scarano G, Lonardo F.

Clin Genet. 2017 Oct;92(4):440-443. doi: 10.1111/cge.13005. Epub 2017 Mar 30.

PMID:
28266014
11.

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.

12.

Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome.

Bieth E, Eddiry S, Gaston V, Lorenzini F, Buffet A, Conte Auriol F, Molinas C, Cailley D, Rooryck C, Arveiler B, Cavaillé J, Salles JP, Tauber M.

Eur J Hum Genet. 2015 Feb;23(2):252-5. doi: 10.1038/ejhg.2014.103. Epub 2014 Jun 11.

13.

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
14.

Deletion of SNURF/SNRPN U1B and U1B* upstream exons in a child with developmental delay and excessive weight.

Koufaris C, Alexandrou A, Papaevripidou I, Alexandrou I, Christophidou-Anastasiadou V, Sismani C.

J Genet. 2016 Sep;95(3):621-4.

15.

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
16.

Molecular diagnosis of Prader-Willi syndrome.

Pangkanon S.

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

PMID:
14700141
17.

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
18.

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.

19.

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
20.

Prader-Willi syndrome: clinical and molecular cytogenetic investigations.

Hou JW, Wang TR.

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

PMID:
8772055

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