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Results: 1 to 20 of 352

Similar articles for PubMed (Select 21385260)

1.

Social impairments in Rett syndrome: characteristics and relationship with clinical severity.

Kaufmann WE, Tierney E, Rohde CA, Suarez-Pedraza MC, Clarke MA, Salorio CF, Bibat G, Bukelis I, Naram D, Lanham DC, Naidu S.

J Intellect Disabil Res. 2012 Mar;56(3):233-47. doi: 10.1111/j.1365-2788.2011.01404.x. Epub 2011 Mar 8.

PMID:
21385260
2.

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.

3.

Epilepsy and the natural history of Rett syndrome.

Glaze DG, Percy AK, Skinner S, Motil KJ, Neul JL, Barrish JO, Lane JB, Geerts SP, Annese F, Graham J, McNair L, Lee HS.

Neurology. 2010 Mar 16;74(11):909-12. doi: 10.1212/WNL.0b013e3181d6b852.

4.

Rett syndrome: of girls and mice--lessons for regression in autism.

Glaze DG.

Ment Retard Dev Disabil Res Rev. 2004;10(2):154-8. Review.

PMID:
15362175
5.

[Mutation spectrum and genotype-phenotype correlation of MECP2 in patients with Rett syndrome].

Kondo I, Yamagata H.

No To Hattatsu. 2002 May;34(3):219-23. Japanese.

PMID:
12030010
6.

The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome.

Mount RH, Charman T, Hastings RP, Reilly S, Cass H.

J Child Psychol Psychiatry. 2002 Nov;43(8):1099-110.

PMID:
12455930
7.

Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome.

Moretti P, Bouwknecht JA, Teague R, Paylor R, Zoghbi HY.

Hum Mol Genet. 2005 Jan 15;14(2):205-20. Epub 2004 Nov 17.

8.

MeCP2 mutations in children with and without the phenotype of Rett syndrome.

Hoffbuhr K, Devaney JM, LaFleur B, Sirianni N, Scacheri C, Giron J, Schuette J, Innis J, Marino M, Philippart M, Narayanan V, Umansky R, Kronn D, Hoffman EP, Naidu S.

Neurology. 2001 Jun 12;56(11):1486-95.

PMID:
11402105
9.

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
10.

Epilepsy in Rett syndrome---the experience of a National Rett Center.

Nissenkorn A, Gak E, Vecsler M, Reznik H, Menascu S, Ben Zeev B.

Epilepsia. 2010 Jul;51(7):1252-8. doi: 10.1111/j.1528-1167.2010.02597.x. Epub 2010 May 13.

PMID:
20491871
11.

[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
12.

Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome.

Buoni S, Zannolli R, Felice CD, Saponari S, Strambi M, Dotti MT, Castrucci E, Corbini L, Orsi A, Hayek J.

Clin Neurophysiol. 2008 Nov;119(11):2455-8. doi: 10.1016/j.clinph.2008.08.015. Epub 2008 Oct 7.

PMID:
18842453
13.
14.

Rett syndrome: the complex nature of a monogenic disease.

Renieri A, Meloni I, Longo I, Ariani F, Mari F, Pescucci C, Cambi F.

J Mol Med (Berl). 2003 Jun;81(6):346-54. Epub 2003 May 16. Review.

PMID:
12750821
15.

Study of MECP2 gene in Rett syndrome variants and autistic girls.

Zappella M, Meloni I, Longo I, Canitano R, Hayek G, Rosaia L, Mari F, Renieri A.

Am J Med Genet B Neuropsychiatr Genet. 2003 May 15;119B(1):102-7.

PMID:
12707946
16.

Medical care of adolescents and women with Rett syndrome: an Italian study.

Vignoli A, La Briola F, Peron A, Turner K, Savini M, Cogliati F, Russo S, Canevini MP.

Am J Med Genet A. 2012 Jan;158A(1):13-8. doi: 10.1002/ajmg.a.34367. Epub 2011 Dec 2.

PMID:
22139899
17.

[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
18.

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
19.

Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations.

Amir RE, Zoghbi HY.

Am J Med Genet. 2000 Summer;97(2):147-52. Review.

PMID:
11180222
20.

Rett syndrome and long-term disorder profile.

Smeets EE, Chenault M, Curfs LM, Schrander-Stumpel CT, Frijns JP.

Am J Med Genet A. 2009 Feb;149A(2):199-205. doi: 10.1002/ajmg.a.32491.

PMID:
19133691
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