These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. 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. PubMed ID: 18500341 [TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 27659713 [TBL] [Abstract][Full Text] [Related]
4. 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. de los Santos T; Schweizer J; Rees CA; Francke U Am J Hum Genet; 2000 Nov; 67(5):1067-82. PubMed ID: 11007541 [TBL] [Abstract][Full Text] [Related]
5. Large-scale evaluation of imprinting status in the Prader-Willi syndrome region: an imprinted direct repeat cluster resembling small nucleolar RNA genes. Meguro M; Mitsuya K; Nomura N; Kohda M; Kashiwagi A; Nishigaki R; Yoshioka H; Nakao M; Oishi M; Oshimura M Hum Mol Genet; 2001 Feb; 10(4):383-94. PubMed ID: 11157801 [TBL] [Abstract][Full Text] [Related]
6. Diagnosing Prader-Willi syndrome. Young ID Lancet; 1995 Jun; 345(8965):1590. PubMed ID: 7783534 [No Abstract] [Full Text] [Related]
7. The genetic basis for Prader-Willi syndrome: the importance of imprinted genes. Brøndum-Nielsen K Acta Paediatr Suppl; 1997 Nov; 423():55-7. PubMed ID: 9401540 [TBL] [Abstract][Full Text] [Related]
8. Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome. Lei M; Mitsuhashi S; Miyake N; Ohta T; Liang D; Wu L; Matsumoto N J Hum Genet; 2019 Jul; 64(7):647-652. PubMed ID: 30988409 [TBL] [Abstract][Full Text] [Related]
9. 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; 10(23):2687-700. PubMed ID: 11726556 [TBL] [Abstract][Full Text] [Related]
10. Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region. Cavaillé J; Seitz H; Paulsen M; Ferguson-Smith AC; Bachellerie JP Hum Mol Genet; 2002 Jun; 11(13):1527-38. PubMed ID: 12045206 [TBL] [Abstract][Full Text] [Related]
11. Genomic imprinting and human chromosome 15. Repetto GM Biol Res; 2001; 34(2):141-5. PubMed ID: 11715207 [TBL] [Abstract][Full Text] [Related]
12. 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():18. PubMed ID: 15877813 [TBL] [Abstract][Full Text] [Related]
13. [To know more about the Prader-Willi syndrome. Diagnosis]. Midro AT; Olchowik B; Lebiedzińska A; Midro H Psychiatr Pol; 2009; 43(2):135-49. PubMed ID: 19697784 [TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 28266014 [TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 10626556 [TBL] [Abstract][Full Text] [Related]
16. 'Severe' Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t(15,22)(q14;q11.2) translocation. Matsumura M; Kubota T; Hidaka E; Wakui K; Kadowaki S; Ueta I; Shimizu T; Ueno I; Yamauchi K; Herzing LB; Nurmi EL; Sutcliffe JS; Fukushima Y; Katsuyama T Clin Genet; 2003 Jan; 63(1):79-81. PubMed ID: 12519378 [No Abstract] [Full Text] [Related]
17. 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. PubMed ID: 24311433 [TBL] [Abstract][Full Text] [Related]
18. Rapid birth-and-death evolution of imprinted snoRNAs in the Prader-Willi syndrome locus: implications for neural development in Euarchontoglires. Zhang YJ; Yang JH; Shi QS; Zheng LL; Liu J; Zhou H; Zhang H; Qu LH PLoS One; 2014; 9(6):e100329. PubMed ID: 24945811 [TBL] [Abstract][Full Text] [Related]
19. [Analysis of histone acetylation in genomic imprinting domain of 15q11-q13]. Okashima M Hokkaido Igaku Zasshi; 2004 Jul; 79(4):461-8. PubMed ID: 15373217 [No Abstract] [Full Text] [Related]
20. SPArking Interest in the Long Noncoding RNA World: A New Class of 5' SnoRNA-Stabilized LncRNA that Influences Alternative Splicing. Li R; Fox AH Mol Cell; 2016 Nov; 64(3):435-437. PubMed ID: 27814487 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]