(Q33805791)

29 July 2017

1 reference

title

Molecular approaches to the Rett syndrome gene (English)

1 reference

29 July 2017

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N C Schanen

1

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29 July 2017

1 December 1999

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Journal of Child Neurology

29 July 2017

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29 July 2017

14

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29 July 2017

12

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29 July 2017

806-814

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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

29 July 2017

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Rett syndrome: geographic variation in prevalence in Norway.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

The orthopedic management of Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Osteopenia in Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

A prevalence study of Rett syndrome in an institutionalized population

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Rett's syndrome: progression of symptoms from infancy to childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Rett syndrome: biogenic amines and metabolites in postmortem brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

The neuropathology of Rett syndrome--overview 1994.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Neuropathology of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Neuroanatomy in Rett syndrome: cerebral cortex and posterior fossa

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Rett syndrome: a disorder affecting early brain growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Alterations in dopaminergic function in Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Decrease in benzodiazepine receptor binding in the brains of adult patients with Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Elevated CSF beta-endorphin immunoreactivity in Rett's syndrome: report of 158 cases and comparison with leukemic children

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Neurochemical alterations in Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Low levels of nerve growth factor in cerebrospinal fluid of children with Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Brain perfusion SPECT and EEG findings in Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Studies on the 3-dimensional architecture of dendritic spines and varicosities in human cortex by confocal laser scanning microscopy and Lucifer yellow microinjections

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Cyclooxygenase-2 expression during rat neocortical development and in Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Abnormal expression of microtubule-associated protein 2 (MAP-2) in neocortex in Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Quantitative analysis of immunofluorescence and lipofuscin distribution in human cortical areas by dual-channel confocal laser scanning microscopy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Morphological study of neocortical areas in Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Rett syndrome: cerebellar pathology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Rett syndrome: spinal cord neuropathology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Genetic aspects of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Is Rett syndrome caused by a triplet repeat expansion?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Oxidative metabolism in Rett syndrome: 1. Clinical studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Oxidative metabolism in Rett syndrome: 2. Biochemical and molecular studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

X chromosome inactivation and X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

X Inactivation in Females with X-Linked Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

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%2F088307389901401207

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

The mechanisms involved in formation of deletions and duplications of 15q11-q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Exclusive paternal origin of new mutations in Apert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Gene action in the X-chromosome of the mouse (Mus musculus L.)

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

ZFX has a gene structure similar to ZFY, the putative human sex determinant, and escapes X inactivation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Patterns of X chromosome inactivation in the Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

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%2F088307389901401207

Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Decreased dendritic branching in frontal, motor and limbic cortex in Rett syndrome compared with trisomy 21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Exclusion of the gastrin-releasing peptide receptor (GRPR) locus as a candidate gene for Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

The genetic basis of Rett syndrome: candidate gene considerations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Analysis of the genomic structure of the human glycine receptor alpha2 subunit gene and exclusion of this gene as a candidate for Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Mutation analysis of the M6b gene in patients with Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

The X-linked methylated DNA binding protein, Mecp2, is subject to X inactivation in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

21 January 2018

CpG islands and genes

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

DNA methylation specifies chromosomal localization of MeCP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401207

10.1177/088307389901401207

21 January 2018

Identifiers

DOI

1 reference

29 July 2017

1 reference

PubMed ID

10614568