Leitlinien für die molekulare und zytogenetische Diagnostik bei Prader-Willi-Syndrom und Angelman-Syndrom
Author:
Publisher
Walter de Gruyter GmbH
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s11825-016-0099-x.pdf
Reference20 articles.
1. 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 (2015) Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome. Eur J Hum Genet 23:252–255
2. Boyes L, Wallace AJ, Krajewska-Walasek M, Chrzanowska KH, Clayton-Smith J, Ramsden S (2006) Detection of a deletion of exons 8-16 of the UBE3A gene in familial Angelman syndrome using a semi-quantitative dosage PCR based assay. Eur J Med Genet 49:472–480
3. Burger J, Horn D, Tonnies H, Neitzel H, Reis A (2002) Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome. Am J Med Genet 111:233–237
4. Chotai KA, Payne SJ (1998) A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes. J Med Genet 35:472–475 (Erratum in: J Med Genet 37:399)
5. 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 18:3257–3265
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1. Angewandte genetische Diagnostik in der Pädiatrie;Monatsschrift Kinderheilkunde;2019-12-12
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