ArticleMolecular syndromology2011
Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome.
Article in Molecular syndromology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Brief report: systematic review of Rett syndrome in males.Journal of autism and developmental disorders · 2015Pooled it
- PLP1-Targeting Antisense Oligonucleotides Improve FOXG1 Syndrome Mice.International journal of molecular sciences · 2024Article
- Identification of aFrontiers in molecular neuroscience · 2022Article
- Review
- Precisely controlling endogenous protein dosage in hPSCs and derivatives to model FOXG1 syndrome.Nature communications · 2019Article
- DelineatingNeurology. Genetics · 2018Article
- FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Monogenic disorders that mimic the phenotype of Rett syndrome.Neurogenetics · 2018Article
- Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation.BMC medical genetics · 2017Article
- Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.European journal of human genetics : EJHG · 2013Article
- 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.European journal of human genetics : EJHG · 2013Article
- Genotyping FOXG1 Mutations in Patients with Clinical Evidence of the FOXG1 Syndrome.Molecular syndromology · 2013Article
- 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.European journal of human genetics : EJHG · 2012Article
- Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We screened a cohort of 5 male and 20 female patients with a Rett spectrum disorder for mutations in the coding region of FOXG1, previously shown to cause the congenital variant of Rett syndrome. Two de novo mutations were identified. The first was a novel missense mutation, p.Ala193Thr (c.577G>A), in a male patient with congenital Rett syndrome, and the second was the p.Glu154GlyfsX301 (c.460dupG) truncating mutation in a female with classical Rett syndrome, a mutation that was previously reported in an independent patient. The overall rate of FOXG1 mutations in our cohort is 8%. Our findings stress the importance of FOXG1 analysis in male patients with Rett syndrome and in female patients when mutations in the MECP2 and CDKL5 genes have been excluded.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.