Does genotype predict phenotype in Rett syndrome? (Q36286566)

13 August 2017

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title

Does genotype predict phenotype in Rett syndrome? (English)

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13 August 2017

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Andrea L Ham

1

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13 August 2017

Asmita Kumar

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2

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13 August 2017

Rose Deeter

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3

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13 August 2017

N Carolyn Schanen

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4

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13 August 2017

1 September 2005

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Journal of Child Neurology

13 August 2017

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13 August 2017

20

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13 August 2017

768-778

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13 August 2017

9

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Rett syndrome: clinical and molecular update

13 August 2017

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Rett variants: a suggested model for inclusion criteria.

21 January 2018

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Clinical manifestations and stages of Rett syndrome

21 January 2018

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Angelman syndrome: a review of the clinical and genetic aspects

21 January 2018

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Rett syndrome: significant clinical overlap with Angelman syndrome but not with methylation status

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738050200091301

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

21 January 2018

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

21 January 2018

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MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings.

21 January 2018

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Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2

21 January 2018

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

21 January 2018

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Rett syndrome: clinical manifestations in males with MECP2 mutations.

21 January 2018

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MECP2 is highly mutated in X-linked mental retardation.

21 January 2018

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

21 January 2018

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A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males

21 January 2018

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

21 January 2018

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De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738050200091301

A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738050200091301

A Rett syndrome MECP2 mutation that causes mental retardation in men.

21 January 2018

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MECP2 mutation in a boy with language disorder and schizophrenia

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738050200091301

MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.

21 January 2018

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Mutations and polymorphisms in the human methyl CpG-binding protein MECP2

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738050200091301

No correlation between phenotype and genotype in boys with a truncating MECP2 mutation

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738050200091301

Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?

21 January 2018

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Novel syndromic form of X-linked complicated spastic paraplegia

21 January 2018

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Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738050200091301

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738050200091301

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738050200091301

Rett syndrome: a surprising result of mutation in MECP2.

21 January 2018

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Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases

21 January 2018

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Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738050200091301

Parental origin of de novo MECP2 mutations in Rett syndrome

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738050200091301

MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

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%2F08830738050200091301

Neonatal encephalopathy in two boys in families with recurrent Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

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%2F08830738050200091301

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%2F08830738050200091301

Occurrence of Rett syndrome in boys.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Functional characterisation of MeCP2 mutations found in male patients with X linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Low frequency of MECP2 mutations in mentally retarded males.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

MECP2 mutation analysis in patients with mental retardation.

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738050200091301

Absence of MeCP2 mutations in patients from the South Carolina autism project

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

An aetiological study of 25 mentally retarded adults with autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

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%2F08830738050200091301

A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3"-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Functional consequences of Rett syndrome mutations on human MeCP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Balanced X chromosome inactivation patterns in the Rett syndrome brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

X-Chromosome inactivation ratios affect wild-type MeCP2 expression within mosaic Rett syndrome and Mecp2-/+ mouse brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

The role of X-chromosome inactivation in the manifestation of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

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%2F08830738050200091301

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Patterns of X chromosome inactivation in the Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Rett syndrome in Spain: mutation analysis and clinical correlations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

MECP2 mutations account for most cases of typical forms of Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

DHPLC analysis of the MECP2 gene in Italian Rett patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Describing the phenotype in Rett syndrome using a population database

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Preserved speech variants of the Rett syndrome: molecular and clinical analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Preserved speech variant is allelic of classic Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Refining the phenotype of common mutations in Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

In-frame deletion inMECP2 causes mild nonspecific mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091301

10.1177/08830738050200091301

21 January 2018

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