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Items: 1 to 20 of 125

1.

Rett syndrome: revised diagnostic criteria and nomenclature.

Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium..

Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124.

2.

Rett syndrome diagnostic criteria: lessons from the Natural History Study.

Percy AK, Neul JL, Glaze DG, Motil KJ, Skinner SA, Khwaja O, Lee HS, Lane JB, Barrish JO, Annese F, McNair L, Graham J, Barnes K.

Ann Neurol. 2010 Dec;68(6):951-5. doi: 10.1002/ana.22154.

3.

A RETT SYNDROME CASE WITH NOVEL NON-IDENTICAL MUTATION IN MECP2 GENE.

Güngör O, Kirik S, Cevizli D, Karaokur F, Ozer L, Uysal S, Dilber C.

Genet Couns. 2015;26(4):387-92.

PMID:
26852508
4.

Brief report: MECP2 mutations in people without Rett syndrome.

Suter B, Treadwell-Deering D, Zoghbi HY, Glaze DG, Neul JL.

J Autism Dev Disord. 2014 Mar;44(3):703-11. doi: 10.1007/s10803-013-1902-z.

5.

Mutational analysis of methyl-CpG binding protein 2 (MECP2) gene in Indian cases of Rett syndrome.

Das DK, Udani V, Sanghavi D, Adhia R, Maitra A.

J Clin Lab Anal. 2013 Mar;27(2):137-42. doi: 10.1002/jcla.21574. Epub 2013 Feb 11.

PMID:
23400946
6.

Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2.

Kobayashi Y, Ohashi T, Akasaka N, Tohyama J.

Brain Dev. 2012 Aug;34(7):601-4. doi: 10.1016/j.braindev.2011.09.014. Epub 2011 Oct 15.

PMID:
22001500
7.

Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome.

Inui K, Akagi M, Ono J, Tsukamoto H, Shimono K, Mano T, Imai K, Yamada M, Muramatsu T, Sakai N, Okada S.

Brain Dev. 2001 Jul;23(4):212-5.

PMID:
11376998
8.

MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders.

Psoni S, Sofocleous C, Traeger-Synodinos J, Kitsiou-Tzeli S, Kanavakis E, Fryssira-Kanioura H.

Brain Dev. 2012 Jun;34(6):487-95. doi: 10.1016/j.braindev.2011.09.002. Epub 2011 Oct 6.

PMID:
21982064
9.

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

Cuddapah VA, Pillai RB, Shekar KV, Lane JB, Motil KJ, Skinner SA, Tarquinio DC, Glaze DG, McGwin G, Kaufmann WE, Percy AK, Neul JL, Olsen ML.

J Med Genet. 2014 Mar;51(3):152-8. doi: 10.1136/jmedgenet-2013-102113. Epub 2014 Jan 7.

10.

The relationship of Rett syndrome and MECP2 disorders to autism.

Neul JL.

Dialogues Clin Neurosci. 2012 Sep;14(3):253-62. Review.

11.

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.

Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A, Bunyan D, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, MacDermot KD, Smith RA, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper DN, Lazarou L, Butler R, Sampson J, Pilz DT, Laccone F, Clarke AJ.

J Med Genet. 2006 May;43(5):451-6. Epub 2005 Sep 23.

12.

Exploring the possible link between MeCP2 and oxidative stress in Rett syndrome.

Filosa S, Pecorelli A, D'Esposito M, Valacchi G, Hajek J.

Free Radic Biol Med. 2015 Nov;88(Pt A):81-90. doi: 10.1016/j.freeradbiomed.2015.04.019. Epub 2015 May 8. Review.

PMID:
25960047
13.

[Application of long range polymerase chain reaction and DNA direct sequencing in diagnosis of Rett syndrome].

Li MR, Pan H, Bao XH, Cao GN, Wu XR.

Zhonghua Er Ke Za Zhi. 2007 Aug;45(8):579-82. Chinese.

PMID:
18021529
14.

Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes.

Temudo T, Santos M, Ramos E, Dias K, Vieira JP, Moreira A, Calado E, Carrilho I, Oliveira G, Levy A, Barbot C, Fonseca M, Cabral A, Cabral P, Monteiro J, Borges L, Gomes R, Mira G, Pereira SA, Santos M, Fernandes A, Epplen JT, Sequeiros J, Maciel P.

Brain Dev. 2011 Jan;33(1):69-76. doi: 10.1016/j.braindev.2010.01.004. Epub 2010 Feb 8.

PMID:
20116947
15.

Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome.

Kim IJ, Kim YJ, Son BH, Nam SO, Kang HC, Kim HD, Yoo MA, Choi OH, Kim CM.

Exp Mol Med. 2006 Apr 30;38(2):119-25.

16.

[MECP2 gene mutations in twenty-six cases with atypical Rett syndrome].

Li MR, Pan H, Bao XH, Zhang YZ, Jiang SL, Wu XR.

Zhonghua Er Ke Za Zhi. 2006 Apr;44(4):285-8. Chinese.

PMID:
16780651
17.

Is it possible to diagnose Rett syndrome before classical symptoms become obvious? Review of 24 Danish cases born between 2003 and 2012.

Bisgaard AM, Schönewolf-Greulich B, Ravn K, Rønde G.

Eur J Paediatr Neurol. 2015 Nov;19(6):679-87. doi: 10.1016/j.ejpn.2015.07.004. Epub 2015 Jul 21.

PMID:
26228846
18.

[Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients].

Li MR, Pan H, Bao XH, Zhu XW, Cao GN, Zhang YZ, Wu XR.

Zhonghua Yi Xue Za Zhi. 2009 Feb 3;89(4):224-9. Chinese.

PMID:
19552836
19.

Rett syndrome and MeCP2.

Liyanage VR, Rastegar M.

Neuromolecular Med. 2014 Jun;16(2):231-64. doi: 10.1007/s12017-014-8295-9. Epub 2014 Mar 11. Review.

PMID:
24615633
20.

[Genetic features and mechanism of Rett syndrome in Chinese population].

Zhang X, Zhao Y, Bao X, Zhang J, Cao G, Wu X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Feb;31(1):1-5. doi: 10.3760/cma.j.issn.1003-9406.2014.01.001. Chinese.

PMID:
24510551

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