Associated Papers
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Vos N et al.
Human Genetics, 2024
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.
Jain V et al.
European Journal of Human Genetics : Ejhg, 2023
Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome.
Ahmed R et al.
Human Molecular Genetics, 2021
Loss of PHF6 leads to aberrant development of human neuron-like cells.
Fliedner A et al.
Scientific Reports, 2020
Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome.
Cheng C et al.
Cell Reports, 2018
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys.
Ernst A et al.
Molecular Syndromology, 2015
PHF6 Degrees of Separation: The Multifaceted Roles of a Chromatin Adaptor Protein.
Todd MA et al.
Genes, 2015
Structural and functional insights into the human Börjeson-Forssman-Lehmann syndrome-associated protein PHF6.
Liu Z et al.
The Journal of Biological Chemistry, 2014
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.
Zweier C et al.
Journal of Medical Genetics, 2013
PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex.
Todd MA et al.
Journal of Proteome Research, 2012
PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females.
Berland S et al.
Molecular Syndromology, 2011
Behavioural phenotype in Börjeson-Forssman-Lehmann syndrome.
de Winter CF et al.
Journal of Intellectual Disability Research : Jidr, 2009
Further clinical delineation of the Börjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations.
Carter MT et al.
American Journal of Medical Genetics. Part A, 2009
The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).
Gécz J et al.
European Journal of Human Genetics : Ejhg, 2006
Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6.
Visootsak J et al.
The Journal of Pediatrics, 2004
A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome.
Vallée D et al.
Journal of Medical Genetics, 2004