(Q36286571)

13 August 2017

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title

Newborn screening and prenatal diagnosis for Rett syndrome: implications for therapy (English)

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13 August 2017

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Ruthie E Amir

1

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13 August 2017

V Reid Sutton

series ordinal

2

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13 August 2017

Ignatia B Van den Veyver

series ordinal

3

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13 August 2017

publication date

1 September 2005

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Journal of Child Neurology

13 August 2017

published in

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13 August 2017

volume

20

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13 August 2017

issue

9

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13 August 2017

page(s)

779-783

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

13 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200091401

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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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The preserved speech variant: a subgroup of the Rett complex: a clinical report of 30 cases

21 January 2018

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Rett syndrome and MeCP2: linking epigenetics and neuronal function

21 January 2018

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

21 January 2018

1 reference

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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

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

21 January 2018

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Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients

21 January 2018

1 reference

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

21 January 2018

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Rett syndrome: a surprising result of mutation in MECP2.

21 January 2018

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Rett syndrome: a prototypical neurodevelopmental disorder

21 January 2018

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

21 January 2018

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Newborn screening as a model for population screening

21 January 2018

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Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

21 January 2018

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Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.

21 January 2018

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

21 January 2018

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

21 January 2018

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Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3

21 January 2018

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Randomised controlled trial of genetic amniocentesis in 4606 low-risk women

21 January 2018

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The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities

21 January 2018

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Current concepts in preimplantation genetic diagnosis (PGD): a molecular biologist's view

21 January 2018

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Preimplantation genetic diagnosis for aneuploidy screening in early human embryos: a review

21 January 2018

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10.1177/08830738050200091401

21 January 2018

Identifiers

DOI

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