(Q48082652)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186495%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

title

Italian Rett database and biobank (English)

1 reference

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23 December 2019

0 references

0 references

2

1 reference

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23 December 2019

Francesca Ariani

4

1 reference

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23 December 2019

Rosangela Artuso

8

1 reference

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23 December 2019

Joussef Hayek

13

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23 December 2019

Alessandra Renieri

15

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23 December 2019

Francesca Mari

16

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23 December 2019

3

Elisa Scala

1 reference

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23 December 2019

author name string

Katia Sampieri

1

1 reference

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23 December 2019

Rossella Caselli

5

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23 December 2019

Chiara Pescucci

6

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23 December 2019

Ilaria Longo

7

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23 December 2019

Mirella Bruttini

9

1 reference

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23 December 2019

Maria Antonietta Mencarelli

10

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23 December 2019

Caterina Speciale

11

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23 December 2019

Vincenza Causarano

12

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23 December 2019

Michele Zappella

14

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23 December 2019

publication date

1 April 2007

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23 December 2019

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23 December 2019

volume

28

1 reference

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23 December 2019

issue

4

1 reference

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23 December 2019

page(s)

329-335

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Rett syndrome: Criteria for inclusion and exclusion

23 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

The Rett girls with preserved speech

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype–phenotype associations in Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

7 January 2021

Describing the phenotype in Rett syndrome using a population database

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

7 January 2021

Abnormal general movements in girls with Rett disorder: the first four months of life.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

7 January 2021

Early onset seizures and Rett-like features associated with mutations in CDKL5.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

7 January 2021

Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

7 January 2021

Data storage and DNA banking for biomedical research: informed consent, confidentiality, quality issues, ownership, return of benefits. A professional perspective

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

7 January 2021

Rett syndrome: clinical peculiarities and biological mysteries

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

7 January 2021

Altered methylation pattern of the G6 PD promoter in Rett syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

7 January 2021

Early clinical signs in the Rett disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

7 January 2021

Guidelines for reporting clinical features in cases with MECP2 mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

7 January 2021

Genotype and early development in Rett syndrome: the value of international data

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

7 January 2021

Rett syndrome in Spain: mutation analysis and clinical correlations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

7 January 2021

Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

7 January 2021

Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

7 January 2021

Age- and tissue-specific variation of X chromosome inactivation ratios in normal women

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

7 January 2021

Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

7 January 2021

Rett syndrome: clinical review and genetic update

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

7 January 2021

Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

7 January 2021

The preserved speech variant: a subgroup of the Rett complex: a clinical report of 30 cases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

7 January 2021

Study of MECP2 gene in Rett syndrome variants and autistic girls.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20453

7 January 2021

Identifiers

DOI

10.1002/HUMU.20453

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186495%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

1 reference