Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Scientific reports - 25 Sept 2017

Vidal Silvia, Brandi Núria, Pacheco Paola, Gerotina Edgar, Blasco Laura, Trotta Jean-Rémi, Derdak Sophia, Del Mar O'Callaghan Maria, Garcia-Cazorla Àngels, Pineda Mercè, Armstrong Judith

Abstract excerpt

Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been identified that cause RTT: MECP2, CDKL5 and FOXG1. However, the etiology of some of RTT patients still remains unknown. Recently, next generation sequencing (NGS) has promoted genetic diagnoses because of the quickness and affordability of the method. To evaluate...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Copy Number Variations
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Forkhead Transcription Factors

Share to High-Throughput Nucleotide Sequencing

Share to Methyl-CpG-Binding Protein 2

Share to Nerve Tissue Proteins

Share to Protein Serine-Threonine Kinases

Share to Rett Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 28947817
DOI: 10.1038/s41598-017-11620-3
PMCID: PMC5613000

Genes

CDKL5
FOXG1
MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.PMID 28947817Read ↗

Current developments in the genetics of Rett and Rett-like syndrome.Semantic proximity Read ↗

Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.Semantic proximity Read ↗

RettBASE: Rett syndrome database update.Semantic proximity Read ↗

Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing.Semantic proximity Read ↗

Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways.Semantic proximity Read ↗

Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.Semantic proximity Read ↗

Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and reevaluation of variants based on the ClinGen guideline.Semantic proximity Read ↗

Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.Semantic proximity Read ↗

Rett syndrome: new clinical and molecular insights.Semantic proximity Read ↗

Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome.Semantic proximity Read ↗

A RETT SYNDROME CASE WITH NOVEL NON-IDENTICAL MUTATION IN MECP2 GENE.Semantic proximity Read ↗

The emerging face of FOXG1 Syndrome: a rare, genetically defined neurodevelopmental disorder coming of age in the genomics era.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.