311 related articles for article (PubMed ID: 24311433)
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. PubMed ID: 24311433
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 20588305
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 28554868
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 27659713
[TBL] [Abstract][Full Text] [Related]
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():18. PubMed ID: 15877813
[TBL] [Abstract][Full Text] [Related]
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; 10(23):2687-700. PubMed ID: 11726556
[TBL] [Abstract][Full Text] [Related]
7. Prader-Willi-Like Phenotype Caused by an Atypical 15q11.2 Microdeletion.
Tan Q; Potter KJ; Burnett LC; Orsso CE; Inman M; Ryman DC; Haqq AM
Genes (Basel); 2020 Jan; 11(2):. PubMed ID: 31991769
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 12154412
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 15565282
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
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. PubMed ID: 24916642
[TBL] [Abstract][Full Text] [Related]
13. Prenatal diagnosis of a 15q11.2-q14 deletion of paternal origin associated with increased nuchal translucency, mosaicism for de novo multiple unbalanced translocations involving 15q11-q14, 5qter, 15qter, 17pter and 3qter and Prader-Willi syndrome.
Chen CP; Lin MH; Chen YY; Chern SR; Wu PS; Chen SW; Wu FT; Town DD; Lee MS; Pan CW; Wang W
Taiwan J Obstet Gynecol; 2021 Mar; 60(2):335-340. PubMed ID: 33678338
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 27659333
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 22495932
[TBL] [Abstract][Full Text] [Related]
16. Prader-Willi locus Snord116 RNA processing requires an active endogenous allele and neuron-specific splicing by Rbfox3/NeuN.
Coulson RL; Powell WT; Yasui DH; Dileep G; Resnick J; LaSalle JM
Hum Mol Genet; 2018 Dec; 27(23):4051-4060. PubMed ID: 30124848
[TBL] [Abstract][Full Text] [Related]
17. Prader-Willi syndrome patient with atypical phenotypes caused by mosaic deletion in the paternal 15q11-q13 region: a case report.
Wu J; Lei M; Wang X; Liu N; Xu X; Gu C; Yu Y; Liu W
Ital J Pediatr; 2022 Dec; 48(1):204. PubMed ID: 36582000
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 16075369
[TBL] [Abstract][Full Text] [Related]
19. The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique Homozygous
Pellikaan K; van Woerden GM; Kleinendorst L; Rosenberg AGW; Horsthemke B; Grosser C; van Zutven LJCM; van Rossum EFC; van der Lely AJ; Resnick JL; Brüggenwirth HT; van Haelst MM; de Graaff LCG
Genes (Basel); 2021 Jun; 12(6):. PubMed ID: 34200226
[TBL] [Abstract][Full Text] [Related]
20. Deletion of the Snord116/SNORD116 Alters Sleep in Mice and Patients with Prader-Willi Syndrome.
Lassi G; Priano L; Maggi S; Garcia-Garcia C; Balzani E; El-Assawy N; Pagani M; Tinarelli F; Giardino D; Mauro A; Peters J; Gozzi A; Grugni G; Tucci V
Sleep; 2016 Mar; 39(3):637-44. PubMed ID: 26446116
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]