(Q43509278)

24 November 2017

title

Rett networked database: an integrated clinical and genetic network of Rett syndrome databases (English)

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2

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Dana Craiu

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Nadia Bahi-Buisson

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Nadia Bahi-Buisson

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Alessandra Renieri

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Alessandra Renieri

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Francesca Mari

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Francesca Mari

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author name string

Elisa Grillo

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Angus Clarke

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Bruria Ben Zeev

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Mercedes Pineda

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Anna Hryniewiecka-Jaworska

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Thierry Bienvenu

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Judith Armstrong

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Ana Roche-Martinez

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Edvige Veneselli

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Silvia Russo

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Aglaia Vignoli

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Giorgio Pini

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Milena Djuric

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Anne-Marie Bisgaard

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Vlatka Mejaški Bošnjak

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Noémi Polgár

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Francesca Cogliati

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Kirstine Ravn

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Maria Pintaudi

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Béla Melegh

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Aleksandra Djukic

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publication date

13 April 2012

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volume

33

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issue

7

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page(s)

1031-1036

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

24 November 2017

cites work

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https://api.crossref.org/works/10.1002%2FHUMU.22072

FOXG1 is responsible for the congenital variant of Rett syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22072

RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22072

Preserved speech variant is allelic of classic Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22072

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22072

InterRett and RettBASE: International Rett Syndrome Association databases for Rett syndrome.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22072

Using the Internet to pilot a questionnaire on childhood disability in Rett syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22072

Rett syndrome: revised diagnostic criteria and nomenclature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22072

Rett syndrome: North American database

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22072

Italian Rett database and biobank.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22072

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22072

The Rett girls with preserved speech

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22072

21 January 2018

Identifiers

DOI

10.1002/HUMU.22072

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24 November 2017

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