Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 1
2011 3
2012 2
2013 1
2015 1
2017 1
2018 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

7 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Rett syndrome, congenital variant"
Page 1
A FOXG1 mutation in a boy with congenital variant of Rett syndrome.
Le Guen T, Bahi-Buisson N, Nectoux J, Boddaert N, Fichou Y, Diebold B, Desguerre I, Raqbi F, Daire VC, Chelly J, Bienvenu T. Le Guen T, et al. Neurogenetics. 2011 Feb;12(1):1-8. doi: 10.1007/s10048-010-0255-4. Epub 2010 Aug 24. Neurogenetics. 2011. PMID: 20734096 Review.
Mutations in the FOXG1 gene have been shown to cause congenital variant of Rett syndrome. To date, point mutations have been reported only in female patients. ...Altogether the presentation in this male patient is highly reminiscent of that observed …
Mutations in the FOXG1 gene have been shown to cause congenital variant of Rett syndrome. To date, point mutatio …
Oxidative stress in Rett syndrome: natural history, genotype, and variants.
Leoncini S, De Felice C, Signorini C, Pecorelli A, Durand T, Valacchi G, Ciccoli L, Hayek J. Leoncini S, et al. Redox Rep. 2011;16(4):145-53. doi: 10.1179/1351000211Y.0000000004. Redox Rep. 2011. PMID: 21888765 Free PMC article. Clinical Trial.
OBJECTIVES: Rett syndrome (RTT) is an X-linked autism spectrum disorder caused by mutations in the MeCP2 gene in the great majority of cases. ...MeCP2 mutations related to more severe phenotypes exhibited higher OS marker levels than those of milder phenotypes. High …
OBJECTIVES: Rett syndrome (RTT) is an X-linked autism spectrum disorder caused by mutations in the MeCP2 gene in the great maj …
Hypoplastic hippocampus in atypical Rett syndrome with a novel FOXG1 mutation.
Harada K, Yamamoto M, Konishi Y, Koyano K, Takahashi S, Namba M, Kusaka T. Harada K, et al. Brain Dev. 2018 Jan;40(1):49-52. doi: 10.1016/j.braindev.2017.07.007. Epub 2017 Aug 7. Brain Dev. 2018. PMID: 28781028
The forkhead box G1 (FOXG1) gene encodes a brain-specific transcription factor and is associated with a congenital variant of atypical Rett syndrome (RTT); several FOXG1 mutations have been identified. ...The patient showed not only the typical cerebra …
The forkhead box G1 (FOXG1) gene encodes a brain-specific transcription factor and is associated with a congenital variant of …
Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy.
Bertossi C, Cassina M, Cappellari A, Toldo I, Nosadini M, Rigon C, Suppiej A, Sartori S. Bertossi C, et al. Neuropediatrics. 2015 Feb;46(1):56-64. doi: 10.1055/s-0034-1395345. Epub 2015 Jan 7. Neuropediatrics. 2015. PMID: 25565401 Review.
BACKGROUND: 14q12 deletions, including the Forkhead Box G1 (FOXG1) gene and point mutations of this gene, are associated with a complex encephalopathy described as a congenital variant of Rett syndrome. A mixture of jerks, athetosis, chorea, and dyston …
BACKGROUND: 14q12 deletions, including the Forkhead Box G1 (FOXG1) gene and point mutations of this gene, are associated with a complex ence …
Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome.
Das DK, Mehta B, Menon SR, Raha S, Udani V. Das DK, et al. Neuromolecular Med. 2013 Mar;15(1):218-25. doi: 10.1007/s12017-012-8212-z. Epub 2012 Dec 15. Neuromolecular Med. 2013. PMID: 23242510
We have screened the CDKL5 gene in 44 patients with atypical Rett syndrome who had tested negative for MECP2 gene mutations and have identified 6 sequence variants, out of which three were novel and three known mutations. ...This is the first report from Indi …
We have screened the CDKL5 gene in 44 patients with atypical Rett syndrome who had tested negative for MECP2 gene mutations an …
Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures.
Vineeth VS, Dutta UR, Tallapaka K, Das Bhowmik A, Dalal A. Vineeth VS, et al. Gene. 2018 Oct 5;673:56-60. doi: 10.1016/j.gene.2018.06.045. Epub 2018 Jun 18. Gene. 2018. PMID: 29920362
Rett syndrome is a neurodevelopmental disorder affecting the nervous, musculoskeletal and gastroenteric systems. ...Apart from MECP2, pathogenic sequence variants and copy number variants of FOXG1 gene lead to congenital type of Rett s …
Rett syndrome is a neurodevelopmental disorder affecting the nervous, musculoskeletal and gastroenteric systems. ...Apart from …
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics.
De Filippis R, Pancrazi L, Bjørgo K, Rosseto A, Kleefstra T, Grillo E, Panighini A, Cardarelli F, Meloni I, Ariani F, Mencarelli MA, Hayek J, Renieri A, Costa M, Mari F. De Filippis R, et al. Clin Genet. 2012 Oct;82(4):395-403. doi: 10.1111/j.1399-0004.2011.01810.x. Epub 2011 Dec 13. Clin Genet. 2012. PMID: 22091895
Mutations in the Forkhead box G1 (FOXG1) gene, a brain specific transcriptional factor, are responsible for the congenital variant of Rett syndrome. Until now FOXG1 point mutations have been reported in 12 Rett patients. Recently seven additiona …
Mutations in the Forkhead box G1 (FOXG1) gene, a brain specific transcriptional factor, are responsible for the congenital variant …