(Q38301670)

1 September 2017

Parental origin of de novo MECP2 mutations in Rett syndrome (English)

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1 September 2017

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Girard M

1

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1 September 2017

Couvert P

2

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1 September 2017

Carrié A

3

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1 September 2017

Tardieu M

4

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1 September 2017

Chelly J

5

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1 September 2017

Beldjord C

6

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1 September 2017

Bienvenu T

7

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1 September 2017

1 March 2001

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European Journal of Human Genetics

1 September 2017

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1 September 2017

9

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1 September 2017

3

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1 September 2017

231-236

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200618

1 September 2017

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cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200618

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200618

7 January 2021

Methyl-CpG-binding protein 2 mutations in Rett syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200618

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200618

7 January 2021

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200618

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200618

7 January 2021

Allele-specific enzymatic amplification of beta-globin genomic DNA for diagnosis of sickle cell anemia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200618

7 January 2021

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200618

7 January 2021

A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200618

7 January 2021

Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200618

7 January 2021

Identification by denaturing high-performance liquid chromatography of numerous polymorphisms in a candidate region for multiple sclerosis susceptibility

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200618

7 January 2021

Sex difference in methylation of single-copy genes in human meiotic germ cells: Implications for X chromosome inactivation, parental imprinting, and origin of CpG mutations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200618

7 January 2021

In search of a genetic basis for the Rett syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200618

7 January 2021

Patterns of pregnancy loss, perinatal mortality, and postneonatal childhood deaths in families of girls with Rett syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200618

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200618

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200618

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Dimensions Publication ID

1 September 2017

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1 reference