Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 261

1.

Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.

Das DK, Raha S, Sanghavi D, Maitra A, Udani V.

Gene. 2013 Feb 15;515(1):78-83. doi: 10.1016/j.gene.2012.11.024. Epub 2012 Dec 20.

PMID:
23262346
[PubMed - indexed for MEDLINE]
2.

[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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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]
5.

MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.

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

J Hum Genet. 2007;52(1):38-47. Epub 2006 Nov 7.

PMID:
17089071
[PubMed - indexed for MEDLINE]
6.

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]
7.

[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
[PubMed - indexed for MEDLINE]
8.

Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms.

Fukuda T, Yamashita Y, Nagamitsu S, Miyamoto K, Jin JJ, Ohmori I, Ohtsuka Y, Kuwajima K, Endo S, Iwai T, Yamagata H, Tabara Y, Miki T, Matsuishi T, Kondo I.

Brain Dev. 2005 Apr;27(3):211-7.

PMID:
15737703
[PubMed - indexed for MEDLINE]
9.

[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
[PubMed - indexed for MEDLINE]
10.

[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]
11.

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.

Genet Test Mol Biomarkers. 2009 Feb;13(1):109-13. doi: 10.1089/gtmb.2008.0076.

PMID:
19309283
[PubMed - indexed for MEDLINE]
12.

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]
13.

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]
14.

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]
15.

The MECP2 gene mutation screening in Rett syndrome patients from Croatia.

Matijević T, Knezević J, Barisić I, Resić B, Culić V, Pavelić J.

Ann N Y Acad Sci. 2006 Dec;1091:225-32. Review.

PMID:
17341617
[PubMed - indexed for MEDLINE]
16.

Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders.

Wong VC, Li SY.

J Child Neurol. 2007 Dec;22(12):1397-400. doi: 10.1177/0883073807307091.

PMID:
18174559
[PubMed - indexed for MEDLINE]
17.

Molecular characteristics of Chinese patients with Rett syndrome.

Zhang X, Bao X, Zhang J, Zhao Y, Cao G, Pan H, Zhang J, Wei L, Wu X.

Eur J Med Genet. 2012 Dec;55(12):677-81. doi: 10.1016/j.ejmg.2012.08.009. Epub 2012 Aug 27.

PMID:
22982301
[PubMed - indexed for MEDLINE]
18.

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
19.

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.

Philippe C, Villard L, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T.

Eur J Med Genet. 2006 Jan-Feb;49(1):9-18.

PMID:
16473305
[PubMed - indexed for MEDLINE]
20.

MECP2 gene mutation analysis in Chinese patients with Rett syndrome.

Pan H, Wang YP, Bao XH, Meng HD, Zhang Y, Wu XR, Shen Y.

Eur J Hum Genet. 2002 Aug;10(8):484-6.

PMID:
12111643
[PubMed - indexed for MEDLINE]
Free Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk