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Items: 1 to 20 of 476

1.

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, Gécz J.

Am J Hum Genet. 2004 Dec;75(6):1079-93. Epub 2004 Oct 18.

2.

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation.

Tao J, Van Esch H, Hagedorn-Greiwe M, Hoffmann K, Moser B, Raynaud M, Sperner J, Fryns JP, Schwinger E, Gécz J, Ropers HH, Kalscheuer VM.

Am J Hum Genet. 2004 Dec;75(6):1149-54.

3.

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY.

Nat Genet. 1999 Oct;23(2):185-8.

PMID:
10508514
4.

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.

5.

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
6.

A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.

Sprovieri T, Conforti FL, Fiumara A, Mazzei R, Ungaro C, Citrigno L, Muglia M, Arena A, Quattrone A.

Am J Med Genet A. 2009 Feb 15;149A(4):722-5. doi: 10.1002/ajmg.a.32711.

PMID:
19253388
7.

[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
8.

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.

Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, Scala E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek G, Balestri P, Bergo A, Badaracco G, Zappella M, Broccoli V, Renieri A, Kilstrup-Nielsen C, Landsberger N.

Hum Mol Genet. 2005 Jul 15;14(14):1935-46. Epub 2005 May 25.

PMID:
15917271
9.

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
10.

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
11.

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
12.

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
13.

Key clinical features to identify girls with CDKL5 mutations.

Bahi-Buisson N, Nectoux J, Rosas-Vargas H, Milh M, Boddaert N, Girard B, Cances C, Ville D, Afenjar A, Rio M, Héron D, N'guyen Morel MA, Arzimanoglou A, Philippe C, Jonveaux P, Chelly J, Bienvenu T.

Brain. 2008 Oct;131(Pt 10):2647-61. doi: 10.1093/brain/awn197. Epub 2008 Sep 12.

PMID:
18790821
14.

Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2.

Huppke P, Ohlenbusch A, Brendel C, Laccone F, Gärtner J.

Am J Med Genet A. 2005 Aug 30;137(2):136-8.

PMID:
16086395
15.

Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?

Winnepenninckx B, Errijgers V, Hayez-Delatte F, Reyniers E, Frank Kooy R.

Hum Mutat. 2002 Oct;20(4):249-52.

PMID:
12325019
16.

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
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
18.

Spectrum of MECP2 mutations in Rett syndrome.

Lee SS, Wan M, Francke U.

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

PMID:
11738860
19.

Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype.

Hoffbuhr KC, Moses LM, Jerdonek MA, Naidu S, Hoffman EP.

Ment Retard Dev Disabil Res Rev. 2002;8(2):99-105. Review.

PMID:
12112735
20.

MECP2 is highly mutated in X-linked mental retardation.

Couvert P, Bienvenu T, Aquaviva C, Poirier K, Moraine C, Gendrot C, Verloes A, Andrès C, Le Fevre AC, Souville I, Steffann J, des Portes V, Ropers HH, Yntema HG, Fryns JP, Briault S, Chelly J, Cherif B.

Hum Mol Genet. 2001 Apr 15;10(9):941-6.

PMID:
11309367

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