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Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome

https://doi.org/10.1016/j.braindev.2020.03.008

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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1002/ajmg.a.36775openalex-snapshot

De novo SHANK3 mutation causes Rett syndrome‐like phenotype in a female patient

inferredcites →https://doi.org/10.1002/ajmg.a.37132openalex-snapshot

Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome

inferredcites →https://doi.org/10.1002/ajmg.a.38279openalex-snapshot

Phenotypes and genotypes in individuals with SMC1A variants

inferredcites →https://doi.org/10.1002/ajmg.a.38689openalex-snapshot

Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes

inferredcites →https://doi.org/10.1002/ana.22124openalex-snapshot

Rett syndrome: Revised diagnostic criteria and nomenclature

inferredcites →https://doi.org/10.1002/ana.25032openalex-snapshot

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy

inferredcites →https://doi.org/10.1007/s10048-017-0535-3openalex-snapshot

Monogenic disorders that mimic the phenotype of Rett syndrome

inferredcites →https://doi.org/10.1016/0887-8994(94)90082-5openalex-snapshot

Rett variants: A suggested model for inclusion criteria

inferredcites →https://doi.org/10.1016/j.ajhg.2008.05.015openalex-snapshot

FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

inferredcites →https://doi.org/10.1016/j.braindev.2010.01.004openalex-snapshot

Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes

inferredcites →https://doi.org/10.1016/j.braindev.2017.12.015openalex-snapshot

Rett-like features and cortical visual impairment in a Japanese patient with HECW2 mutation

inferredcites →https://doi.org/10.1016/j.braindev.2018.02.002openalex-snapshot

A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl

inferredcites →https://doi.org/10.1016/j.braindev.2018.05.010openalex-snapshot

An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU

inferredcites →https://doi.org/10.1016/j.ejpn.2015.07.004openalex-snapshot

Is it possible to diagnose Rett syndrome before classical symptoms become obvious? Review of 24 Danish cases born between 2003 and 2012

inferredcites →https://doi.org/10.1016/j.jpeds.2010.01.009openalex-snapshot

United States Head Circumference Growth Reference Charts: Birth to 21 Years

inferredcites →https://doi.org/10.1016/j.neubiorev.2019.01.028openalex-snapshot

Regression in Rett syndrome: Developmental pathways to its onset

inferredcites →https://doi.org/10.1016/j.pediatrneurol.2016.06.016openalex-snapshot

The Clinical Predictors That Facilitate a Clinician's Decision to Order Genetic Testing for Rett Syndrome

inferredcites →https://doi.org/10.1038/13810openalex-snapshot

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

inferredcites →https://doi.org/10.1038/ejhg.2012.156openalex-snapshot

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

inferredcites →https://doi.org/10.1038/ejhg.2014.249openalex-snapshot

Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype

inferredcites →https://doi.org/10.1038/gim.2015.100openalex-snapshot

Mutations in JMJD1C are involved in Rett syndrome and intellectual disability

inferredcites →https://doi.org/10.1038/gim.2015.30openalex-snapshot

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

inferredcites →https://doi.org/10.1038/gim.2016.42openalex-snapshot

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2

inferredcites →https://doi.org/10.1038/jhg.2014.18openalex-snapshot

De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain

inferredcites →https://doi.org/10.1038/nrneurol.2011.64openalex-snapshot

Clinical criteria for Rett syndrome

inferredcites →https://doi.org/10.1038/s41598-017-11620-3openalex-snapshot

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

inferredcites →https://doi.org/10.1038/sj.ejhg.5201471openalex-snapshot

Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype–phenotype associations in Rett syndrome

inferredcites →https://doi.org/10.1046/j.1399-0004.2003.00176.xopenalex-snapshot

Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett‐like features

inferredcites →https://doi.org/10.1086/426462openalex-snapshot

Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation

inferredcites →https://doi.org/10.1097/wnr.0000000000000337openalex-snapshot

A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype

inferredcites →https://doi.org/10.1097/yco.0000000000000389openalex-snapshot

Current developments in the genetics of Rett and Rett-like syndrome

inferredcites →https://doi.org/10.1111/cge.13153openalex-snapshot

Clinician’s guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature

inferredcites →https://doi.org/10.1111/epi.13669openalex-snapshot

Heterozygous truncation mutations of the SMC 1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases

inferredcites →https://doi.org/10.1111/epi.13709openalex-snapshot

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

inferredcites →https://doi.org/10.1111/j.1365-2788.2011.01404.xopenalex-snapshot

Social impairments in Rett syndrome: characteristics and relationship with clinical severity

inferredcites →https://doi.org/10.1111/j.1528-1167.2010.02597.xopenalex-snapshot

Epilepsy in Rett syndrome—The experience of a National Rett Center

inferredcites →https://doi.org/10.1136/jmedgenet-2015-103568openalex-snapshot

Identification of novel genetic causes of Rett syndrome- like phenotypes

inferredcites →https://doi.org/10.1136/jmedgenet-2018-105775openalex-snapshot

Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing

inferredcites →https://doi.org/10.1136/jmg.2010.087528openalex-snapshot

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

inferredcites →https://doi.org/10.1186/s12881-018-0700-zopenalex-snapshot

De novo mutations in SCN1A are associated with classic Rett syndrome: a case report

inferredcites →https://doi.org/10.1212/nxg.0000000000000227openalex-snapshot

WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype

inferredcites →https://doi.org/10.1212/wnl.0000000000006729openalex-snapshot

SYNGAP1 encephalopathy

inferredcites →https://doi.org/10.1212/wnl.0b013e3181b9c880openalex-snapshot

Child Neurology: Dravet syndrome

inferredcites →https://doi.org/10.3233/trd-180021openalex-snapshot

When Rett syndrome is due to genes other than MECP2

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.2139/ssrn.4477094openalex-extracted

Elav-Gal4> Mir-219 Induces Changes in Developmental Survival and Behavior in Drosophila Growth

inferred← citeshttps://doi.org/10.1111/dmcn.70429openalex-snapshot

Speech, language, social communication, and communication assessments in Rett syndrome: A systematic review

inferred← citeshttps://doi.org/10.1186/s40246-023-00532-1openalex-snapshot

Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach

inferred← citeshttps://doi.org/10.3390/ijms221910375openalex-snapshot

Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders

inferred← citeshttps://doi.org/10.5409/wjcp.v14.i4.109874openalex-snapshot

Atypical case of Rett syndrome with concurrent MECP2 gene mutation and del(15)(q22qter) karyotype: A case report and review of literature

inferred← citeshttps://doi.org/10.58995/redlic.rmic.v3.n3.a164openalex-snapshot

Actualización de diagnóstico y tratamiento de síndrome de RETT. Revisión sistemática

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