Literature DB >> 18627058

Constitutional H19 hypermethylation in a patient with isolated cardiac tumor.

Maria Descartes1, Robb Romp, Judy Franklin, Joseph R Biggio, Barbara Zehnbauer.   

Abstract

Beckwith-Wiedemann syndrome (BWS) is clinically and molecularly very heterogenous. Molecular findings characteristic of BWS have been reported in individuals with no or few associated features. We report on a child with isolated cardiac tumor and a constitutional H19 hypermethylation with none of the features of BWS. Copyright 2008 Wiley-Liss, Inc.

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Year:  2008        PMID: 18627058     DOI: 10.1002/ajmg.a.32421

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  3 in total

1.  Cardiac pathologies in mouse loss of imprinting models are due to misexpression of H19 long noncoding RNA.

Authors:  Ki-Sun Park; Beenish Rahat; Hyung Chul Lee; Zu-Xi Yu; Jacob Noeker; Apratim Mitra; Connor M Kean; Russell H Knutsen; Danielle Springer; Claudia M Gebert; Beth A Kozel; Karl Pfeifer
Journal:  Elife       Date:  2021-08-17       Impact factor: 8.713

2.  Increased plasma levels of lncRNA H19 and LIPCAR are associated with increased risk of coronary artery disease in a Chinese population.

Authors:  Zhen Zhang; Wei Gao; Qing-Qing Long; Jian Zhang; Ya-Fei Li; Dong-Chen Liu; Jian-Jun Yan; Zhi-Jian Yang; Lian-Sheng Wang
Journal:  Sci Rep       Date:  2017-08-08       Impact factor: 4.379

3.  Proposal for Practical Approach in Prenatal Diagnosis of Beckwith-Wiedemann Syndrome and Review of the Literature.

Authors:  Gwo-Chin Ma; Tze-Ho Chen; Wan-Ju Wu; Dong-Jay Lee; Wen-Hsiang Lin; Ming Chen
Journal:  Diagnostics (Basel)       Date:  2022-07-13
  3 in total

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