Literature DB >> 27514998

Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).

Sureni V Mullegama, Sarah H Elsea.   

Abstract

Entities:  

Year:  2016        PMID： 27514998      PMCID： PMC4989217          DOI： 10.1038/ejhg.2016.77

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  4 in total

1.  Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes.

Authors:  Sureni V Mullegama; Steven D Klein; Stephen R Williams; Jeffrey W Innis; Frank J Probst; Chad Haldeman-Englert; Julian A Martinez-Agosto; Ying Yang; Yuchen Tian; Sarah H Elsea; Toshihiko Ezashi
Journal:  Sci Rep       Date:  2021-05-28       Impact factor: 4.996

2.  Inherited 2q23.1 microdeletions involving the MBD5 locus.

Authors:  Shereen Tadros; Rubin Wang; Jonathan J Waters; Christine Waterman; Amanda L Collins; Morag N Collinson; Joo W Ahn; Dragana Josifova; Ravi Chetan; Ajith Kumar
Journal:  Mol Genet Genomic Med       Date:  2017-08-08       Impact factor: 2.183

3.  Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction.

Authors:  Elysa Jill Marco; Anne Brandes Aitken; Vishnu Prakas Nair; Gilberto da Gente; Molly Rae Gerdes; Leyla Bologlu; Sean Thomas; Elliott H Sherr
Journal:  BMC Med Genomics       Date:  2018-05-25       Impact factor: 3.063

4.  A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?

Authors:  Willem Verhoeven; Jos Egger; Janneke Kipp; Jiska Verheul-Aan de Wiel; Charlotte Ockeloen; Tjitske Kleefstra; Rolph Pfundt
Journal:  Mol Genet Genomic Med       Date:  2019-07-09       Impact factor: 2.183
  4 in total

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