Similar articles for PMID: 23866855

Year	Number of Results
1999	1
2000	3
2001	4
2003	1
2004	2
2005	6
2006	9
2007	6
2008	2
2009	8
2010	4
2011	14
2012	9
2013	7
2014	4
2015	8
2016	4
2017	4
2018	8
2019	4
2020	8
2021	5
2022	4
2023	1
2024	0

1

A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient.

Sheikh TI, Mittal K, Willis MJ, Vincent JB. Sheikh TI, et al. Orphanet J Rare Dis. 2013 Jul 19;8:108. doi: 10.1186/1750-1172-8-108. Orphanet J Rare Dis. 2013. PMID: 23866855 Free PMC article.

2

Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.

Gianakopoulos PJ, Zhang Y, Pencea N, Orlic-Milacic M, Mittal K, Windpassinger C, White SJ, Kroisel PM, Chow EW, Saunders CJ, Minassian BA, Vincent JB. Gianakopoulos PJ, et al. Am J Med Genet B Neuropsychiatr Genet. 2012 Mar;159B(2):210-6. doi: 10.1002/ajmg.b.32015. Epub 2011 Dec 27. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 22213695

3

Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome.

Saunders CJ, Minassian BE, Chow EW, Zhao W, Vincent JB. Saunders CJ, et al. Am J Med Genet A. 2009 May;149A(5):1019-23. doi: 10.1002/ajmg.a.32776. Am J Med Genet A. 2009. PMID: 19365833

4

A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation.

Tokaji N, Ito H, Kohmoto T, Naruto T, Takahashi R, Goji A, Mori T, Toda Y, Saito M, Tange S, Masuda K, Kagami S, Imoto I. Tokaji N, et al. Am J Med Genet A. 2018 Mar;176(3):699-702. doi: 10.1002/ajmg.a.38595. Epub 2018 Jan 17. Am J Med Genet A. 2018. PMID: 29341476

5

Two novel mutations in the MECP2 gene in patients with Rett syndrome.

Khalili Alashti S, Fallahi J, Mohammadi S, Dehghanian F, Farbood Z, Masoudi M, Poorang S, Jokar A, Fardaei M. Khalili Alashti S, et al. Gene. 2020 Mar 30;732:144337. doi: 10.1016/j.gene.2020.144337. Epub 2020 Jan 17. Gene. 2020. PMID: 31958484

6

Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome.

Yasui DH, Gonzales ML, Aflatooni JO, Crary FK, Hu DJ, Gavino BJ, Golub MS, Vincent JB, Carolyn Schanen N, Olson CO, Rastegar M, Lasalle JM. Yasui DH, et al. Hum Mol Genet. 2014 May 1;23(9):2447-58. doi: 10.1093/hmg/ddt640. Epub 2013 Dec 18. Hum Mol Genet. 2014. PMID: 24352790 Free PMC article.

7

A novel MECP2 gene mutation in a Tunisian patient with Rett syndrome.

Fendri-Kriaa N, Abdelkafi Z, Rebeh IB, Kamoun F, Triki C, Fakhfakh F. Fendri-Kriaa N, et al. Genet Test Mol Biomarkers. 2009 Feb;13(1):109-13. doi: 10.1089/gtmb.2008.0076. Genet Test Mol Biomarkers. 2009. PMID: 19309283

8

Deleterious mutations in exon 1 of MECP2 in Rett syndrome.

Quenard A, Yilmaz S, Fontaine H, Bienvenu T, Moncla A, des Portes V, Rivier F, Mathieu M, Raux G, Jonveaux P, Philippe C. Quenard A, et al. Eur J Med Genet. 2006 Jul-Aug;49(4):313-22. doi: 10.1016/j.ejmg.2005.11.002. Epub 2005 Dec 20. Eur J Med Genet. 2006. PMID: 16829352

9

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.

Saxena A, de Lagarde D, Leonard H, Williamson SL, Vasudevan V, Christodoulou J, Thompson E, MacLeod P, Ravine D. Saxena A, et al. J Med Genet. 2006 Jun;43(6):470-7. doi: 10.1136/jmg.2005.036244. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155192 Free PMC article.

10

Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations.

Ravn K, Roende G, Duno M, Fuglsang K, Eiklid KL, Tümer Z, Nielsen JB, Skjeldal OH. Ravn K, et al. Orphanet J Rare Dis. 2011 Aug 30;6:58. doi: 10.1186/1750-1172-6-58. Orphanet J Rare Dis. 2011. PMID: 21878110 Free PMC article. Review.

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