Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome

Sequence-specific DNA binding by AT-hook motifs in MeCP2

(2016) Matthew J. Lyst et al.   FEBS LETTERS

A Novel Mutation p.A59P in N-Terminal Domain of Methyl-CpG–Binding Protein 2 Confers Phenotypic Variability in 3 Cases of Tunisian Rett Patients

(2015) Marwa Kharrat et al.   JOURNAL OF CHILD NEUROLOGY

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

(2015) Laura Bianciardi et al.   JOURNAL OF HUMAN GENETICS

SNPdryad: predicting deleterious non-synonymous human SNPs using only orthologous protein sequences

(2014) Ka-Chun Wong et al.   BIOINFORMATICS

Rett syndrome and the urge of novel approaches to study MeCP2 functions and mechanisms of action

(2014) Francesco Bedogni et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Detection of rarely identified multiple mutations inMECP2gene do not contribute to enhanced severity in rett syndrome

(2013) Christopher A. Chapleau et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

An AT-Hook Domain in MeCP2 Determines the Clinical Course of Rett Syndrome and Related Disorders

(2013) Steven Andrew Baker et al.   CELL

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett Syndrome patient

(2013) Taimoor I Sheikh et al.   Orphanet Journal of Rare Diseases

Comparison of Genomic and Epigenomic Expression in Monozygotic Twins Discordant for Rett Syndrome

(2013) Miyake Kunio et al.   PLoS One

Novel double deletions in the MECP2 gene in Tunisian Rett patient

(2012) Nourhene Fendri-Kriaa et al.   GENE

Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: Report of two novel mutations

(2012) Dhanjit Kumar Das et al.   GENE

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

(2012) Hashem A. Shihab et al.   HUMAN MUTATION

A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene

(2011) Nourhene Fendri-Kriaa et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Clinical severity and quality of life in children and adolescents with Rett syndrome

(2011) J. B. Lane et al.   NEUROLOGY

Rett syndrome: Revised diagnostic criteria and nomenclature

(2010) Jeffrey L. Neul et al.   ANNALS OF NEUROLOGY

Binding of the Rett syndrome protein, MeCP2, to methylated and unmethylated DNA and chromatin

(2010) Jeffrey C. Hansen et al.   IUBMB LIFE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Homology modelling and spectroscopy, a never-ending love story

(2009) Hanka Venselaar et al.   EUROPEAN BIOPHYSICS JOURNAL WITH BIOPHYSICS LETTERS

A Novel MECP2 Gene Mutation in a Tunisian Patient with Rett Syndrome

(2009) Nourhène Fendri-Kriaa et al.   Genetic Testing and Molecular Biomarkers

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH