Literature DB >> 12519378

'Severe' Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t(15,22)(q14;q11.2) translocation.

M Matsumura, T Kubota, E Hidaka, K Wakui, S Kadowaki, I Ueta, T Shimizu, I Ueno, K Yamauchi, L B Herzing, E L Nurmi, J S Sutcliffe, Y Fukushima, T Katsuyama.   

Abstract

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Year:  2003        PMID： 12519378     DOI： 10.1034/j.1399-0004.2003.630114.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  2 in total

1.  An interstitial 15q11-q14 deletion: expanded Prader-Willi syndrome phenotype.

Authors:  Merlin G Butler; Douglas C Bittel; Nataliya Kibiryeva; Linda D Cooley; Shihui Yu
Journal:  Am J Med Genet A       Date:  2010-02       Impact factor: 2.802

2.  Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome.

Authors:  Maria Cristina Roberti; Cecilia Surace; Maria Cristina Digilio; Gemma D'Elia; Pietro Sirleto; Rossella Capolino; Antonietta Lombardo; Anna Cristina Tomaiuolo; Stefano Petrocchi; Adriano Angioni
Journal:  Orphanet J Rare Dis       Date:  2011-04-19       Impact factor: 4.123
  2 in total

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