(Q36286534)

13 August 2017

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title

MECP2 abnormality phenotypes: clinicopathologic area with broad variability (English)

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13 August 2017

Bengt Hagberg

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Anna Erlandson

series ordinal

object named as

Anna Erlandson

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13 August 2017

publication date

1 September 2005

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Journal of Child Neurology

13 August 2017

published in

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13 August 2017

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13 August 2017

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13 August 2017

page(s)

727-732

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Rett variants: a suggested model for inclusion criteria

13 August 2017

cites work

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https://api.crossref.org/works/10.1177%2F08830738050200090501

Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200090501

A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200090501

A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200090501

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200090501

Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200090501

Functional consequences of Rett syndrome mutations on human MeCP2.

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738050200090501

MECP2 is highly mutated in X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200090501

MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200090501

MECP2 mutation analysis in patients with mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200090501

Infantile hypotonia as a presentation of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200090501

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200090501

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200090501

Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200090501

Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200090501

Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome

21 January 2018

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Association between a GABRB3 polymorphism and autism.

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738050200090501

Evidence for uniparental, paternal expression of the human GABAA receptor subunit genes, using microcell-mediated chromosome transfer

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200090501

Chromosomal localization of GABAA receptor subunit genes: relationship to human genetic disease.

21 January 2018

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Mutation screening in Rett syndrome patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200090501

Preserved speech variant is allelic of classic Rett syndrome

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738050200090501

Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738050200090501

Rett syndrome: long-term clinical follow-up experiences over four decades.

21 January 2018

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Rett syndrome in a boy with a 47,XXY karyotype

21 January 2018

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Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200090501

Identification of MeCP2 mutations in a series of females with autistic disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200090501

Mutation analysis of the coding sequence of the MECP2 gene in infantile autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200090501

MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200090501

X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200090501

MECP2 mutation in male patients with non-specific X-linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200090501

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200090501

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200090501

In-frame deletion inMECP2 causes mild nonspecific mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200090501

10.1177/08830738050200090501

21 January 2018

Identifiers

DOI

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1 reference