Clinical stringency greatly improves mutation detection in Rett syndrome (Q47245305)

12 January 2018

title

Clinical stringency greatly improves mutation detection in Rett syndrome (English)

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12

Guy A Rouleau

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1

Julie Gauthier

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9

Sandra Laurent

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Judith St-Onge

8

object named as

Judith St-Onge

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Sylvie Toupin

6

object named as

Sylvie Toupin

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author name string

Giovana de Amorim

2

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Gevork N Mnatzakanian

3

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Carol Saunders

4

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John B Vincent

5

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David Kauffman

7

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Patrick M Macleod

10

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Berge A Minassian

11

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publication date

1 August 2005

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Canadian Journal of Neurological Sciences

published in

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volume

32

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issue

3

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page(s)

321-326

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12 January 2018

A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

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Clinical manifestations and stages of Rett syndrome

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

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Mutations and polymorphisms in the human methyl CpG-binding protein MECP2

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

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The major form of MeCP2 has a novel N-terminus generated by alternative splicing

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Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

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Clinical variability in Rett syndrome

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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

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Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome

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An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001

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Rett syndrome: significant clinical overlap with Angelman syndrome but not with methylation status

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Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.

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

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

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Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.

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

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Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome

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

1 reference

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7 January 2021

10.1017/S0317167100004200

Identifiers

DOI

0 references

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12 January 2018