Literature DB >> 12676919

Exclusion of maternal uniparental disomy of chromosome 14 in patients referred for Prader-Willi syndrome using a multiplex methylation polymerase chain reaction assay.

L G Dietz, A A Wylie, K A Rauen, S K Murphy, R L Jirtle, P D Cotter.   

Abstract

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Year:  2003        PMID： 12676919      PMCID： PMC1735412          DOI： 10.1136/jmg.40.4.e46

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

1.  Frequency and characterization of DNA methylation defects in children born SGA.

Authors:  Susanne Bens; Andrea Haake; Julia Richter; Judith Leohold; Julia Kolarova; Inga Vater; Felix G Riepe; Karin Buiting; Thomas Eggermann; Gabriele Gillessen-Kaesbach; Konrad Platzer; Dirk Prawitt; Almuth Caliebe; Reiner Siebert
Journal:  Eur J Hum Genet       Date:  2012-12-12       Impact factor: 4.246

2.  Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14.

Authors:  Melita D Irving; Karin Buiting; Deniz Kanber; Celia Donaghue; Reiner Schulz; Amaka Offiah; Shehla N Mohammed; Rebecca J Oakey
Journal:  Am J Med Genet A       Date:  2010-08       Impact factor: 2.802

3.  Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32.

Authors:  Jasmin Beygo; Miriam Elbracht; Karel de Groot; Matthias Begemann; Deniz Kanber; Konrad Platzer; Gabriele Gillessen-Kaesbach; Anne Vierzig; Andrew Green; Raoul Heller; Karin Buiting; Thomas Eggermann
Journal:  Eur J Hum Genet       Date:  2014-05-07       Impact factor: 4.246

4.  Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis.

Authors:  Consuelo Salas-Labadía; Esther Lieberman; Roberto Cruz-Alcívar; Pilar Navarrete-Meneses; Samuel Gómez; Consuelo Cantú-Reyna; Karin Buiting; Carola Durán-McKinster; Patricia Pérez-Vera
Journal:  Mol Cytogenet       Date:  2014-09-25       Impact factor: 2.009

5.  Post-transcriptional dysregulation by miRNAs is implicated in the pathogenesis of gastrointestinal stromal tumor [GIST].

Authors:  Lorna Kelly; Kenneth Bryan; Su Young Kim; Katherine A Janeway; J Keith Killian; Hans-Ulrich Schildhaus; Markku Miettinen; Lee Helman; Paul S Meltzer; Matt van de Rijn; Maria Debiec-Rychter; Maureen O'Sullivan
Journal:  PLoS One       Date:  2013-05-24       Impact factor: 3.240
  5 in total

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