(Q48650852)

13 February 2018

title

Rett syndrome: clinical manifestations in males with MECP2 mutations (English)

1 reference

13 February 2018

0 references

8

Avi Orr-Urtreger

1 reference

13 February 2018

Bruria Ben Zeev

1

1 reference

13 February 2018

Yuval Yaron

2

1 reference

13 February 2018

N Carolyn Schanen

3

1 reference

13 February 2018

Haika Wolf

4

1 reference

13 February 2018

Nathan Brandt

5

1 reference

13 February 2018

Nathan Ginot

6

1 reference

13 February 2018

Ruth Shomrat

7

1 reference

13 February 2018

publication date

1 January 2002

1 reference

13 February 2018

Journal of Child Neurology

published in

1 reference

13 February 2018

volume

17

1 reference

13 February 2018

issue

1

1 reference

13 February 2018

page(s)

20-24

1 reference

13 February 2018

Rett variants: a suggested model for inclusion criteria.

cites work

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700105

[Rett phenotype in patient with XXY karyotype: case report]

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700105

Neonatal encephalopathy in two boys in families with recurrent Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700105

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700105

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%2F088307380201700105

Rett syndrome and the MECP2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700105

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700105

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700105

Mutation screening in Rett syndrome patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700105

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%2F088307380201700105

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700105

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%2F088307380201700105

Mutations in the MECP2 gene in a cohort of girls with Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700105

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%2F088307380201700105

Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700105

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%2F088307380201700105

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%2F088307380201700105

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700105

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%2F088307380201700105

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700105

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%2F088307380201700105

Neuroanatomy in Rett syndrome: cerebral cortex and posterior fossa

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700105

Neurotrophic factors in cerebrospinal fluid and serum of patients with Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700105

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700105

Rett syndrome associated with tuberous sclerosis in a male and in a female: evidence for arrested motor and mental development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700105

Male Rett syndrome variant: application of diagnostic criteria

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700105

MECP2 is highly mutated in X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700105

10.1177/088307380201700105

21 January 2018

Identifiers

DOI

0 references

1 reference

13 February 2018