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Results: 1 to 20 of 108

1.

A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization.

Le Guen T, Fichou Y, Nectoux J, Bahi-Buisson N, Rivier F, Boddaert N, Diebold B, Héron D, Chelly J, Bienvenu T.

Hum Mutat. 2011 Feb;32(2):E2026-35. doi: 10.1002/humu.21422. Epub 2010 Dec 7.

PMID:
21280142
[PubMed - indexed for MEDLINE]
2.

Novel mutation in forkhead box G1 (FOXG1) gene in an Indian patient with Rett syndrome.

Das DK, Jadhav V, Ghattargi VC, Udani V.

Gene. 2014 Mar 15;538(1):109-12. doi: 10.1016/j.gene.2013.12.063. Epub 2014 Jan 9.

PMID:
24412290
[PubMed - indexed for MEDLINE]
3.

Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.

Hadzsiev K, Polgar N, Bene J, Komlosi K, Karteszi J, Hollody K, Kosztolanyi G, Renieri A, Melegh B.

J Hum Genet. 2011 Mar;56(3):183-7. doi: 10.1038/jhg.2010.156. Epub 2010 Dec 16.

PMID:
21160487
[PubMed - indexed for MEDLINE]
4.

Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.

Bahi-Buisson N, Nectoux J, Girard B, Van Esch H, De Ravel T, Boddaert N, Plouin P, Rio M, Fichou Y, Chelly J, Bienvenu T.

Neurogenetics. 2010 May;11(2):241-9. doi: 10.1007/s10048-009-0220-2. Epub 2009 Oct 6.

PMID:
19806373
[PubMed - indexed for MEDLINE]
5.

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.

Neuromolecular Med. 2013 Mar;15(1):218-25. doi: 10.1007/s12017-012-8212-z. Epub 2012 Dec 15.

PMID:
23242510
[PubMed - indexed for MEDLINE]
6.

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

Philippe C, Amsallem D, Francannet C, Lambert L, Saunier A, Verneau F, Jonveaux P.

J Med Genet. 2010 Jan;47(1):59-65. doi: 10.1136/jmg.2009.067355. Epub 2009 Jun 29.

PMID:
19564653
[PubMed - indexed for MEDLINE]
7.

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.

Ellaway CJ, Ho G, Bettella E, Knapman A, Collins F, Hackett A, McKenzie F, Darmanian A, Peters GB, Fagan K, Christodoulou J.

Eur J Hum Genet. 2013 May;21(5):522-7. doi: 10.1038/ejhg.2012.208. Epub 2012 Sep 12.

PMID:
22968132
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.

Rosas-Vargas H, Bahi-Buisson N, Philippe C, Nectoux J, Girard B, N'Guyen Morel MA, Gitiaux C, Lazaro L, Odent S, Jonveaux P, Chelly J, Bienvenu T.

J Med Genet. 2008 Mar;45(3):172-8. Epub 2007 Nov 9.

PMID:
17993579
[PubMed - indexed for MEDLINE]
9.

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.

Neurogenetics. 2011 Feb;12(1):1-8. doi: 10.1007/s10048-010-0255-4. Epub 2010 Aug 24. Review.

PMID:
20734096
[PubMed - indexed for MEDLINE]
10.

FOXG1 is responsible for the congenital variant of Rett syndrome.

Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, Pollazzon M, Buoni S, Spiga O, Ricciardi S, Meloni I, Longo I, Mari F, Broccoli V, Zappella M, Renieri A.

Am J Hum Genet. 2008 Jul;83(1):89-93. doi: 10.1016/j.ajhg.2008.05.015. Epub 2008 Jun 19.

PMID:
18571142
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery.

Ricciardi S, Kilstrup-Nielsen C, Bienvenu T, Jacquette A, Landsberger N, Broccoli V.

Hum Mol Genet. 2009 Dec 1;18(23):4590-602. doi: 10.1093/hmg/ddp426. Epub 2009 Sep 9.

PMID:
19740913
[PubMed - indexed for MEDLINE]
Free Article
12.

14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.

Allou L, Lambert L, Amsallem D, Bieth E, Edery P, Destrée A, Rivier F, Amor D, Thompson E, Nicholl J, Harbord M, Nemos C, Saunier A, Moustaïne A, Vigouroux A, Jonveaux P, Philippe C.

Eur J Hum Genet. 2012 Dec;20(12):1216-23. doi: 10.1038/ejhg.2012.127. Epub 2012 Jun 27.

PMID:
22739344
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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

Mencarelli MA, Spanhol-Rosseto A, Artuso R, Rondinella D, De Filippis R, Bahi-Buisson N, Nectoux J, Rubinsztajn R, Bienvenu T, Moncla A, Chabrol B, Villard L, Krumina Z, Armstrong J, Roche A, Pineda M, Gak E, Mari F, Ariani F, Renieri A.

J Med Genet. 2010 Jan;47(1):49-53. doi: 10.1136/jmg.2009.067884. Epub 2009 Jul 2.

PMID:
19578037
[PubMed - indexed for MEDLINE]
14.

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

Kortüm F, Das S, Flindt M, Morris-Rosendahl DJ, Stefanova I, Goldstein A, Horn D, Klopocki E, Kluger G, Martin P, Rauch A, Roumer A, Saitta S, Walsh LE, Wieczorek D, Uyanik G, Kutsche K, Dobyns WB.

J Med Genet. 2011 Jun;48(6):396-406. doi: 10.1136/jmg.2010.087528. Epub 2011 Mar 25.

PMID:
21441262
[PubMed - indexed for MEDLINE]
15.

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

Roche-Martinez A, Gerotina E, Armstrong-Moron J, Sans-Capdevila O, Pineda M.

Rev Neurol. 2011 May 16;52(10):597-602. Spanish.

PMID:
21488007
[PubMed - indexed for MEDLINE]
Free Article
16.

Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.

Guerrini R, Parrini E.

Epilepsia. 2012 Dec;53(12):2067-78. doi: 10.1111/j.1528-1167.2012.03656.x. Epub 2012 Sep 21. Review.

PMID:
22998673
[PubMed - indexed for MEDLINE]
17.

Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.

Jacob FD, Ramaswamy V, Andersen J, Bolduc FV.

Eur J Hum Genet. 2009 Dec;17(12):1577-81. doi: 10.1038/ejhg.2009.95. Epub 2009 Jul 22. Review.

PMID:
19623215
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome.

Takahashi S, Matsumoto N, Okayama A, Suzuki N, Araki A, Okajima K, Tanaka H, Miyamoto A.

Clin Genet. 2012 Dec;82(6):569-73. doi: 10.1111/j.1399-0004.2011.01819.x. Epub 2011 Dec 16.

PMID:
22129046
[PubMed - indexed for MEDLINE]
19.

[Clinical features in Rett syndrome: MECP2-, CDKL5- and FOXG1- related disorders].

Takahashi S.

No To Hattatsu. 2014 Mar;46(2):117-20. Review. Japanese. No abstract available.

PMID:
24738188
[PubMed - indexed for MEDLINE]
20.

Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome.

Nectoux J, Heron D, Tallot M, Chelly J, Bienvenu T.

Clin Genet. 2006 Jul;70(1):29-33.

PMID:
16813600
[PubMed - indexed for MEDLINE]
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