| 1 | PWS, SNORD116@
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| Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
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| 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.
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| Eur J Hum Genet 18(11):1196-201. Epub 2010 Jun 30.PMID: 20588305 2010
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| 2 | SNORD116@
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| A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism.
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| de Smith AJ, Purmann C, Walters RG, Ellis RJ, Holder SE, Van Haelst MM, Brady AF, Fairbrother UL, Dattani M, Keogh JM, Henning E, Yeo GS, O'Rahilly S, Froguel P, Farooqi IS, Blakemore AI.
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| Hum Mol Genet 18(17):3257-65. Epub 2009 Jun 4.PMID: 19498035 2009
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| 3 | PWS, SNORD115@, SNORD116@, SNRPN, SNURF
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| Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.
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| Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL.
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| Nat Genet 40(6):719-21. Epub 2008 May 25. 2008
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| 4 | PWS, SNORD116@
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| SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice.
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| Ding F, Li HH, Zhang S, Solomon NM, Camper SA, Cohen P, Francke U.
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| PLoS ONE 3(3):e1709.
2008
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| 5 | SNORD116@
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| The paradox of Prader-Willi syndrome: a genetic model of starvation.
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| Holland A, Whittington J, Hinton E.
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| Lancet 362(9388):989-91. 2003
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| 6 | PWS, SNORD116@
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| Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome.
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| Gallagher RC, Pils B, Albalwi M, Francke U.
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| Am J Hum Genet 71(3):669-78. 2002
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| 7 | IPW, SNORD115@, SNORD116@, SNORD64, SNRPN
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| A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15.
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| Wirth J, Back E, Huttenhofer A, Nothwang HG, Lich C, Gross S, Menzel C, Schinzel A, Kioschis P, Tommerup N, Ropers HH, Horsthemke B, Buiting K.
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| Hum Mol Genet 10(3):201-10. 2001
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| 8 | AS, ATP10A, PWS, SNORD107, SNORD108, SNORD109A, SNORD109B, SNORD115-1, SNORD115-10, SNORD115-11, SNORD115-12, SNORD115-13, SNORD115-14, SNORD115-15, SNORD115-16, SNORD115-17, SNORD115-18, SNORD115-19, SNORD115-2, SNORD115-20, SNORD115-21, SNORD115-22, SNORD115-23, SNORD115-24, SNORD115-25, SNORD115-26, SNORD115-29, SNORD115-3, SNORD115-30, SNORD115-31, SNORD115-32, SNORD115-33, SNORD115-34, SNORD115-35, SNORD115-36, SNORD115-37, SNORD115-38, SNORD115-39, SNORD115-4, SNORD115-40, SNORD115-41, SNORD115-42, SNORD115-43, SNORD115-44, SNORD115-48, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8, SNORD115-9, SNORD115@, SNORD116-1, SNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-14, SNORD116-15, SNORD116-16, SNORD116-17, SNORD116-18, SNORD116-19, SNORD116-2, SNORD116-20, SNORD116-21, SNORD116-22, SNORD116-23, SNORD116-24, SNORD116-25, SNORD116-26, SNORD116-27, SNORD116-28, SNORD116-29, SNORD116-3, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9, SNORD116@, SNORD64, SNRPN, SNURF, UBE3A
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| The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A.
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| Runte M, Huttenhofer A, Gross S, Kiefmann M, Horsthemke B, Buiting K.
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| Hum Mol Genet 10(23):2687-700. 2001
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| 9 | SNORD116@, UBE3A
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| Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes.
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| Nicholls RD, Knepper JL.
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| Annu Rev Genomics Hum Genet 2:153-75. Review. 2001
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| 10 | SNORA36A, SNORD115@, SNORD116@, SNORD64
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| Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization.
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| Cavaille J, Buiting K, Kiefmann M, Lalande M, Brannan CI, Horsthemke B, Bachellerie JP, Brosius J, Huttenhofer A.
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| Proc Natl Acad Sci U S A 97(26):14311-6. 2000
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| 11 | C15orf49, SNORD108, SNORD109A, SNORD109B, SNORD115@, SNORD116@, SNORD64, SNRPN
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| Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brain.
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| de los Santos T, Schweizer J, Rees CA, Francke U.
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| Am J Hum Genet 67(5):1067-82. Epub 2000 Sep 26. 2000
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