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Results: 1 to 20 of 221

1.

Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation.

Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Uzielli ML.

Brain Dev. 2001 Dec;23 Suppl 1:S242-5.

PMID:
11738883
[PubMed - indexed for MEDLINE]
2.

DHPLC analysis of the MECP2 gene in Italian Rett patients.

Nicolao P, Carella M, Giometto B, Tavolato B, Cattin R, Giovannucci-Uzielli ML, Vacca M, Della Regione F, Piva S, Bortoluzzi S, Gasparini P.

Hum Mutat. 2001 Aug;18(2):132-40.

PMID:
11462237
[PubMed - indexed for MEDLINE]
3.

Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome.

Chae JH, Hwang YS, Kim KJ.

J Child Neurol. 2002 Jan;17(1):33-6.

PMID:
11913567
[PubMed - indexed for MEDLINE]
4.

Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech.

Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T.

Brain Dev. 2001 Dec;23 Suppl 1:S157-60.

PMID:
11738864
[PubMed - indexed for MEDLINE]
5.

Spectrum of MECP2 mutations in Rett syndrome.

Lee SS, Wan M, Francke U.

Brain Dev. 2001 Dec;23 Suppl 1:S138-43.

PMID:
11738860
[PubMed - indexed for MEDLINE]
6.

Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.

Buyse IM, Fang P, Hoon KT, Amir RE, Zoghbi HY, Roa BB.

Am J Hum Genet. 2000 Dec;67(6):1428-36. Epub 2000 Oct 30.

PMID:
11055898
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

[Genotype-phenotype correlations in Rett syndrome: the study of Russian cohort of patients].

Vorsanova SG, Ulas VIu, Iurov IuB, Giovanucci-Uzielli ML, Demidova IA, Gianti L, Villard L, Iurov IIu, Beresheva AK, Novikov PV.

Zh Nevrol Psikhiatr Im S S Korsakova. 2002;102(10):23-9. Russian.

PMID:
12449561
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

Cheadle JP, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A.

Hum Mol Genet. 2000 Apr 12;9(7):1119-29. Erratum in: Hum Mol Genet 2000 Jul 1;9(11):1717.

PMID:
10767337
[PubMed - indexed for MEDLINE]
Free Article
10.

Mutation analysis in Rett syndrome.

Milunsky JM, Lebo RV, Ikuta T, Maher TA, Haverty CE, Milunsky A.

Genet Test. 2001 Winter;5(4):321-5.

PMID:
11960578
[PubMed - indexed for MEDLINE]
11.

Rett syndrome in Spain: mutation analysis and clinical correlations.

Monrós E, Armstrong J, Aibar E, Poo P, Canós I, Pineda M.

Brain Dev. 2001 Dec;23 Suppl 1:S251-3.

PMID:
11738885
[PubMed - indexed for MEDLINE]
12.

Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.

Amano K, Nomura Y, Segawa M, Yamakawa K.

J Hum Genet. 2000;45(4):231-6.

PMID:
10944854
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

[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
[PubMed - indexed for MEDLINE]
15.

[Mutational analysis of MECP2 gene in Rett syndrome].

Pan H, Wang Y, Meng H, Bao X, Zhang Y, Shen Y, Wu X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2002 Aug;19(4):276-80. Chinese.

PMID:
12170461
[PubMed - indexed for MEDLINE]
16.

MECP2 mutations in Serbian Rett syndrome patients.

Djarmati A, Dobricić V, Kecmanović M, Marsh P, Jancić-Stefanović J, Klein C, Djurić M, Romac S.

Acta Neurol Scand. 2007 Dec;116(6):413-9.

PMID:
17986102
[PubMed - indexed for MEDLINE]
17.

Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome.

Lam CW, Yeung WL, Ko CH, Poon PM, Tong SF, Chan KY, Lo IF, Chan LY, Hui J, Wong V, Pang CP, Lo YM, Fok TF.

J Med Genet. 2000 Dec;37(12):E41. No abstract available.

PMID:
11106359
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome.

Kim SJ, Cook EH Jr.

Hum Mutat. 2000 Apr;15(4):382-3.

PMID:
10737989
[PubMed - indexed for MEDLINE]
19.

Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

Leonard H, Colvin L, Christodoulou J, Schiavello T, Williamson S, Davis M, Ravine D, Fyfe S, de Klerk N, Matsuishi T, Kondo I, Clarke A, Hackwell S, Yamashita Y.

J Med Genet. 2003 May;40(5):e52. No abstract available.

PMID:
12746406
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype.

Chae JH, Hwang H, Hwang YS, Cheong HJ, Kim KJ.

J Child Neurol. 2004 Jul;19(7):503-8.

PMID:
15526954
[PubMed - indexed for MEDLINE]

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