Literature DB >> 11836373

Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15.

D Poyatos1, M Guitart, E Gabau, C Brun, M Mila, J Vaquerizo, M D Coll.   

Abstract

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Year:  2002        PMID： 11836373      PMCID： PMC1735026          DOI： 10.1136/jmg.39.2.e4

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


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  3 in total

1.  Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases.

Authors:  Emese Horváth; Zsuzsanna Horváth; Dóra Isaszegi; Gyurgyinka Gergev; Nikoletta Nagy; János Szabó; László Sztriha; Márta Széll; Emőke Endreffy
Journal:  Mol Cytogenet       Date:  2013-09-08       Impact factor: 2.009

2.  Whole exome sequencing and methylation‑specific multiplex ligation‑dependent probe amplification applied to identify Angelman syndrome due to paternal uniparental disomy in two unrelated patients.

Authors:  Haibei Li; Haiqi Yang; Nan Lv; Caiyun Ma; Jingjie Li; Qing Shang
Journal:  Mol Med Rep       Date:  2019-06-05       Impact factor: 2.952

3.  E3 ubiquitin ligase E6AP negatively regulates adipogenesis by downregulating proadipogenic factor C/EBPalpha.

Authors:  Pooja Pal; Savita Lochab; Jitendra Kumar Kanaujiya; Isha Kapoor; Sabyasachi Sanyal; Gerhard Behre; Arun Kumar Trivedi
Journal:  PLoS One       Date:  2013-06-07       Impact factor: 3.240
  3 in total

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