Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.W255*
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FOXG1

NM_005249.5:p.W255*

Associated Papers

Identification of FOXG1 mutations in infantile hypotonia and postnatal microcephaly.

Jang HN et al.

Medicine, 2021

AAV-mediated FOXG1 gene editing in human Rett primary cells.

Croci S et al.

European Journal of Human Genetics : Ejhg, 2020

FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms.

Wong LC et al.

International Journal of Molecular Sciences, 2019

31454984 (PubMed )
Supplement: ijms-20-04176-s001.pdf

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.

Fernández-Marmiesse A et al.

Frontiers in Neuroscience, 2019

FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.

Mitter D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1(+/-) patients and in foxg1(+/-) mice.

Patriarchi T et al.

European Journal of Human Genetics : Ejhg, 2016

Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay.

Fryssira H et al.

Molecular Cytogenetics, 2016

Acquired initiating mutations in early hematopoietic cells of CLL patients.

Damm F et al.

Cancer Discovery, 2014

24920063 (PubMed )
Supplement: 21598290cd140104-sup-tab1.xls › CLL11

Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics.

De Filippis R et al.

Clinical Genetics, 2012

FOXG1-Related Disorders: From Clinical Description to Molecular Genetics.

Florian C et al.

Molecular Syndromology, 2012

Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome.

Van der Aa N et al.

Molecular Syndromology, 2011

[FOXG1, a new gene responsible for the congenital form of Rett syndrome].

Roche-Martinez A et al.

Revista De Neurologia, 2011

A FOXG1 mutation in a boy with congenital variant of Rett syndrome.

Le Guen T et al.

Neurogenetics, 2011

Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females.

Philippe C et al.

Journal of Medical Genetics, 2010

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

Mencarelli MA et al.

Journal of Medical Genetics, 2010

FOXG1 is responsible for the congenital variant of Rett syndrome.

Ariani F et al.

American Journal of Human Genetics, 2008

[Molecular basis of Rett syndrome: A current look].

Pantaleón F G et al.

Revista Chilena De Pediatria, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."