(Q39912261)

15 September 2017

title

The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform (English)

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15 September 2017

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3

Nadia Bahi-Buisson

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15 September 2017

Yann Fichou

1

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15 September 2017

Juliette Nectoux

2

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15 September 2017

Haydeé Rosas-Vargas

4

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15 September 2017

Benoit Girard

5

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15 September 2017

Jamel Chelly

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15 September 2017

Thierry Bienvenu

7

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15 September 2017

publication date

26 November 2008

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15 September 2017

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15 September 2017

volume

10

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15 September 2017

issue

2

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15 September 2017

page(s)

127-133

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RNA secondary structure prediction by centroids in a Boltzmann weighted ensemble

15 September 2017

cites work

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12 December 2020

Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene

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12 December 2020

Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males.

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12 December 2020

The PSIPRED protein structure prediction server

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12 December 2020

The major form of MeCP2 has a novel N-terminus generated by alternative splicing

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12 December 2020

A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1

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12 December 2020

Balanced X chromosome inactivation patterns in the Rett syndrome brain

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12 December 2020

An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001

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12 December 2020

A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

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12 December 2020

Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome

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12 December 2020

Deleterious mutations in exon 1 of MECP2 in Rett syndrome

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12 December 2020

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

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12 December 2020

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.

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12 December 2020

DNA binding of methyl-CpG-binding protein MeCP2 in human MCF7 cells

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12 December 2020

Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo

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12 December 2020

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

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12 December 2020

A statistical sampling algorithm for RNA secondary structure prediction

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12 December 2020

Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome.

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12 December 2020

Guidelines for reporting clinical features in cases with MECP2 mutations.

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12 December 2020

10.1007/S10048-008-0161-1

Identifiers

DOI

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15 September 2017

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