Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients (Q41938321)

14 October 2017

Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients (English)

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14 October 2017

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14 October 2017

Mónica Santos

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author name string

Teresa Temudo

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14 October 2017

Teresa Kay

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14 October 2017

Inês Carrilho

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14 October 2017

Ana Medeira

5

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14 October 2017

Helena Cabral

6

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14 October 2017

Roseli Gomes

7

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14 October 2017

Maria Teresa Lourenço

8

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14 October 2017

Margarida Venâncio

9

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14 October 2017

Eulália Calado

10

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14 October 2017

Ana Moreira

11

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14 October 2017

Guiomar Oliveira

12

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14 October 2017

Guiomar Oliveira

13

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14 October 2017

1 January 2009

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Journal of Child Neurology

14 October 2017

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14 October 2017

24

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14 October 2017

1

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14 October 2017

49-55

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A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

14 October 2017

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https://api.crossref.org/works/10.1177%2F0883073808321043

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

Occurrence of Rett syndrome in boys.

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

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%2F0883073808321043

Rett syndrome: clinical manifestations in males with MECP2 mutations.

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808321043

MECP2 mutation in a boy with language disorder and schizophrenia

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

MECP2 is highly mutated in X-linked mental retardation.

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

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%2F0883073808321043

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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https://api.crossref.org/works/10.1177%2F0883073808321043

Early progressive encephalopathy in boys and MECP2 mutations

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

Low frequency of MECP2 mutations in mentally retarded males.

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808321043

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%2F0883073808321043

An explanation for another familial case of Rett syndrome: maternal germline mosaicism.

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR).

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808321043

Rethinking the fate of males with mutations in the gene that causes Rett syndrome

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808321043

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808321043

Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

DNA Methylation-Related Chromatin Remodeling in Activity-Dependent Bdnf Gene Regulation

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073808321043

In-frame deletion inMECP2 causes mild nonspecific mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808321043

21 January 2018

Identifiers

DOI

10.1177/0883073808321043

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14 October 2017

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