(Q50304287)

2 March 2018

title

Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. (English)

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2 March 2018

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16

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2 March 2018

John Christodoulou

18

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2 March 2018

Ingrid Scheffer

4

object named as

Ingrid E Scheffer

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author name string

Rose White

1

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2 March 2018

Gladys Ho

2

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2 March 2018

Swetlana Schmidt

3

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2 March 2018

Ingrid E Scheffer

4

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2 March 2018

Alexandra Fischer

5

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2 March 2018

Simone C Yendle

6

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2 March 2018

Thierry Bienvenu

7

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2 March 2018

Juliette Nectoux

8

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2 March 2018

Carolyn J Ellaway

9

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2 March 2018

Artur Darmanian

10

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2 March 2018

XingZhang Tong

11

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2 March 2018

Desiree Cloosterman

12

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2 March 2018

Bruce Bennetts

13

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2 March 2018

Veena Kalra

14

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2 March 2018

Tod Fullston

15

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2 March 2018

Timothy C Cox

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2 March 2018

language of work or name

English

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publication date

1 April 2010

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2 March 2018

Twin Research and Human Genetics

published in

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2 March 2018

volume

13

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2 March 2018

issue

2

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2 March 2018

page(s)

168-178

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2 March 2018

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

cites work

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https://api.crossref.org/works/10.1375%2FTWIN.13.2.168

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.

21 January 2018

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https://api.crossref.org/works/10.1375%2FTWIN.13.2.168

NTNG1 mutations are a rare cause of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.13.2.168

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.13.2.168

FOXG1 is responsible for the congenital variant of Rett syndrome

21 January 2018

1 reference

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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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.13.2.168

The three stages of epilepsy in patients with CDKL5 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.13.2.168

Key clinical features to identify girls with CDKL5 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.13.2.168

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.13.2.168

Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.13.2.168

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/10.1375%2FTWIN.13.2.168

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy

21 January 2018

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https://api.crossref.org/works/10.1375%2FTWIN.13.2.168

Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder

21 January 2018

1 reference

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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

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https://api.crossref.org/works/10.1375%2FTWIN.13.2.168

Early onset seizures and Rett-like features associated with mutations in CDKL5.

21 January 2018

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ARX: a gene for all seasons

21 January 2018

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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

21 January 2018

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https://api.crossref.org/works/10.1375%2FTWIN.13.2.168

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.13.2.168

Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.13.2.168

Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.13.2.168

Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2.

21 January 2018

1 reference

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Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.13.2.168

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

21 January 2018

1 reference

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Rett syndrome in Australia: a review of the epidemiology.

21 January 2018

1 reference

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CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.13.2.168

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.13.2.168

Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.13.2.168

Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.13.2.168

CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.13.2.168

Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.13.2.168

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.13.2.168

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.13.2.168

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.13.2.168

Rett syndrome: new clinical and molecular insights.

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.13.2.168

21 January 2018

Identifiers

DOI

10.1375/TWIN.13.2.168

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2 March 2018

PubMed ID

20397747

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2 March 2018