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Items: 8

1.

MECP2 duplication in a patient with congenital central hypoventilation.

Belligni EF, Palmer RW, Hennekam RC.

Am J Med Genet A. 2010 Jun;152A(6):1591-3. doi: 10.1002/ajmg.a.33311. No abstract available.

PMID:
20503343
2.

Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.

Schüle B, Armstrong DD, Vogel H, Oviedo A, Francke U.

Clin Genet. 2008 Aug;74(2):116-26. doi: 10.1111/j.1399-0004.2008.01005.x. Epub 2008 May 8. Review.

PMID:
18477000
3.

Deciphering Rett syndrome with mouse genetics, epigenomics, and human neurons.

Tao J, Wu H, Sun YE.

Int Rev Neurobiol. 2009;89:147-60. doi: 10.1016/S0074-7742(09)89007-7. Review.

PMID:
19900619
4.

In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome.

Weese-Mayer DE, Berry-Kravis EM, Marazita ML.

Respir Physiol Neurobiol. 2005 Nov 15;149(1-3):73-82. Epub 2005 Jul 28. Review.

PMID:
16054879
5.

The story of Rett syndrome: from clinic to neurobiology.

Chahrour M, Zoghbi HY.

Neuron. 2007 Nov 8;56(3):422-37. Review.

6.

The molecular pathology of Rett syndrome: synopsis and update.

Akbarian S, Jiang Y, Laforet G.

Neuromolecular Med. 2006;8(4):485-94. Review.

PMID:
17028371
7.

Mechanisms of disease: neurogenetics of MeCP2 deficiency.

Francke U.

Nat Clin Pract Neurol. 2006 Apr;2(4):212-21. Review.

PMID:
16932552
8.

MeCP2 in neurons: closing in on the causes of Rett syndrome.

Caballero IM, Hendrich B.

Hum Mol Genet. 2005 Apr 15;14 Spec No 1:R19-26. Review. Erratum in: Hum Mol Genet. 2005 Jul 15;14(14):2089.

PMID:
15809268

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