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Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.

författare

Anna Rajab

publicerad i: Journal of Medical Genetics

utgivningsår: 2015-06-05

språk: engelska

huvudämne: autism, intellektuell funktionsnedsättning, disability affecting intellectual abilities

Refererar artiklar 11

Datum

Titel

Författare

2014-05-01

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

Hans van Bokhoven, Björn Menten, Evan E. Eichler, Sabine Endele, Anita Rauch, Joep de Ligt, Kelsey Jarrett, Sarah Vergult, Christiane Zweier, Joris A Veltman, Alexander Hoischen, Han Brunner, Heather C. Mefford
2014-02-20

POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability
2014-04-01

MutationTaster2: mutation prediction for the deep-sequencing age.

David N. Cooper, Dominik Seelow
2014-05-27

Blockade of ActRIIB signaling triggers muscle fatigability and metabolic myopathy

Etienne Mouisel, Christophe Hourdé, France Piétri-Rouxel, Stéphane Blot, Renée Ventura-Clapier
2013-07-01

Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor

Flavia de Lima Alves, Juri Rappsilber, Robert Ekiert, Jim Selfridge, Adrian Peter Bird, Jacky Guy
2013

Structural and Functional Analysis of the DEAF-1 and BS69 MYND Domains

Michael Sattler, Konstantinos Tripsianes, Roberta Spadaccini, Titus M Franzmann
2012-06-04

HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing

Dominik Seelow
2010-12

Rett syndrome: revised diagnostic criteria and nomenclature

Nadia Bahi-Buisson, Jeffrey L. Neul, John Christodoulou, Alessandra Renieri, Alan K. Percy, Walter E Kaufmann, Daniel G Glaze
2004-03-01

Defective neural tube closure and anteroposterior patterning in mice lacking the LIM protein LMO4 or its interacting partner Deaf-1

Geoffrey J. Lindeman, Jane Visvader
1999-10-01

Nuclear DEAF-1-related (NUDR) protein contains a novel DNA binding domain and represses transcription of the heterogeneous nuclear ribonucleoprotein A2/B1 promoter.
1998-10

Characterization of a nuclear deformed epidermal autoregulatory factor-1 (DEAF-1)-related (NUDR) transcriptional regulator protein

Artikel - wd:Q50310573

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