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Items: 15

1.

A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype.

Adegbola AA, Gonzales ML, Chess A, LaSalle JM, Cox GF.

Hum Genet. 2009 Jan;124(6):615-23. doi: 10.1007/s00439-008-0585-6. Epub 2008 Nov 7.

PMID:
18989701
2.

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
3.

MeCP2 dysfunction in Rett syndrome and related disorders.

Moretti P, Zoghbi HY.

Curr Opin Genet Dev. 2006 Jun;16(3):276-81. Epub 2006 May 2. Review.

PMID:
16647848
4.

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
5.

Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations.

Shahbazian MD, Zoghbi HY.

Curr Opin Neurol. 2001 Apr;14(2):171-6. Review.

PMID:
11262731
6.

Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).

Moog U, Smeets EE, van Roozendaal KE, Schoenmakers S, Herbergs J, Schoonbrood-Lenssen AM, Schrander-Stumpel CT.

Eur J Paediatr Neurol. 2003;7(1):5-12. Review.

PMID:
12615169
7.

Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome.

Van den Veyver IB, Zoghbi HY.

Brain Dev. 2001 Dec;23 Suppl 1:S147-51. Review.

PMID:
11738862
8.

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
9.

Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations.

Ravn K, Roende G, Duno M, Fuglsang K, Eiklid KL, Tümer Z, Nielsen JB, Skjeldal OH.

Orphanet J Rare Dis. 2011 Aug 30;6:58. doi: 10.1186/1750-1172-6-58. Review.

10.

Rett syndrome: from the gene to the disease.

Matijevic T, Knezevic J, Slavica M, Pavelic J.

Eur Neurol. 2009;61(1):3-10. doi: 10.1159/000165342. Epub 2008 Oct 24. Review.

11.

Evolving role of MeCP2 in Rett syndrome and autism.

LaSalle JM, Yasui DH.

Epigenomics. 2009 Oct;1(1):119-30. doi: 10.2217/epi.09.13. Review.

12.

Linking epigenetics to human disease and Rett syndrome: the emerging novel and challenging concepts in MeCP2 research.

Zachariah RM, Rastegar M.

Neural Plast. 2012;2012:415825. doi: 10.1155/2012/415825. Epub 2012 Feb 9. Review.

13.

The Odyssey of MeCP2 and parental imprinting.

LaSalle JM.

Epigenetics. 2007 Jan-Mar;2(1):5-10. Epub 2006 Dec 12. Review.

PMID:
17965611
14.

Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity.

Lambert S, Maystadt I, Boulanger S, Vrielynck P, Destrée A, Lederer D, Moortgat S.

Eur J Med Genet. 2016 Jul 25. pii: S1769-7212(16)30202-6. doi: 10.1016/j.ejmg.2016.07.003. [Epub ahead of print] Review.

PMID:
27465203
15.

Drosophila modeling of heritable neurodevelopmental disorders.

Gatto CL, Broadie K.

Curr Opin Neurobiol. 2011 Dec;21(6):834-41. doi: 10.1016/j.conb.2011.04.009. Epub 2011 May 17. Review.

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