Clinical phenotypes of MAGEL2 mutations and deletions
详细信息 查看全文
- 作者：Karin Buiting (7)
Nataliya Di Donato (8)
Jasmin Beygo (7)
Susanne Bens (9)
Maja von der Hagen (10)
Karl Hackmann (8)
Bernhard Horsthemke (7)
7. Institut f眉r Humangenetik ; Universit盲tsklinikum Essen ; Universit盲t Duisburg-Essen ; Essen ; Germany
8. Institut f眉r Klinische Genetik ; Medizinische Fakult盲t Carl Gustav Carus ; TU Dresden ; Dresden ; Germany
9. Institute of Human Genetics ; University Hospital Schleswig-Holstein ; Campus Kiel & Christian-Albrechts-University Kiel ; Kiel ; Germany
10. Department of Neuropediatrics ; Technical University Dresden ; Dresden ; Germany - 刊名：Orphanet Journal of Rare Diseases
- 出版年：2014
- 出版时间：December 2014
- 年：2014
- 卷：9
- 期：1
- 全文大小：329 KB
- 参考文献：1. Sahoo, T, del Gaudio, D, German, JR, Shinawi, M, Peters, SU, Person, RE, Garnica, A, Cheung, SW, Beaudet, AL (2008) Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet 40: pp. 719-721 CrossRef
2. 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 (2009) A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. Hum Mol Genet 18: pp. 3257-3265 CrossRef
3. 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 (2010) Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. Eur J Hum Genet 18: pp. 1196-1201 CrossRef
4. Schaaf, CP, Gonzalez-Garay, ML, Xia, F, Potocki, L, Gripp, KW, Zhang, B, Peters, BA, McElwain, MA, Drmanac, R, Beaudet, AL, Caskey, CT, Yang, Y (2013) Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nat Genet 45: pp. 1405-1408 CrossRef
5. Kanber, D, Giltay, J, Wieczorek, D, Zogel, C, Hochstenbach, R, Caliebe, A, Kuechler, A, Horsthemke, B, Buiting, K (2009) A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. Eur J Hum Genet 17: pp. 582-590 CrossRef
6. Abreu, AP, Dauber, A, Macedo, DB, Noel, SD, Brito, VN, Gill, JC, Cukier, P, Thompson, IR, Navarro, VM, Gagliardi, PC, Rodrigues, T, Kochi, C, Longui, CA, Beckers, D, de Zegher, F, Montenegro, LR, Mendonca, BB, Carroll, RS, Hirschhorn, JN, Latronico, AC, Kaiser, UB (2013) Central precocious puberty caused by mutations in the imprinted gene MKRN3. N Engl J Med 368: pp. 2467-2475 CrossRef
7. Rieusset, A, Schaller, F, Unmehopa, U, Matarazzo, V, Watrin, F, Linke, M, Georges, B, Bischof, J, Dijkstra, F, Bloemsma, M, Corby, S, Michel, FJ, Wevrick, R, Zechner, U, Swaab, D, Dudley, K, Bezin, L, Muscatelli, F (2013) Stochastic loss of silencing of the imprinted Ndn/NDN allele, in a mouse model and humans with prader-willi syndrome, has functional consequences. PLoS Genet 9: pp. e1003752 CrossRef - 刊物主题：Medicine/Public Health, general; Pharmacology/Toxicology; Medicinal Chemistry;
- 出版者：BioMed Central
- ISSN：1750-1172
文摘