(Q51889620)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21293276%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

title

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females (English)

1 reference

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21 January 2020

12

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21 January 2020

Iwona Terczyńska

9

1 reference

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21 January 2020

10

Hanna Mierzewska

1 reference

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21 January 2020

15

Tadeusz Mazurczak

1 reference

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21 January 2020

3

Monika Gos

1 reference

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21 January 2020

14

Ewa Bocian

1 reference

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21 January 2020

4

Ewa Obersztyn

1 reference

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21 January 2020

17

Paweł Stankiewicz

1 reference

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21 January 2020

author name string

Magdalena Bartnik

1

1 reference

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21 January 2020

Katarzyna Derwińska

2

1 reference

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21 January 2020

Katarzyna E Kołodziejska

5

1 reference

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21 January 2020

Ayelet Erez

6

1 reference

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21 January 2020

Agnieszka Szpecht-Potocka

7

1 reference

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21 January 2020

Ping Fang

8

1 reference

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21 January 2020

Naomi J Lohr

11

1 reference

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21 January 2020

Tyler Reimschisel

13

1 reference

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21 January 2020

Sau Wai Cheung

16

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21 January 2020

language of work or name

English

0 references

publication date

1 May 2011

1 reference

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21 January 2020

1 reference

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21 January 2020

volume

13

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21 January 2020

issue

5

1 reference

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21 January 2020

page(s)

447-452

1 reference

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Key clinical features to identify girls with CDKL5 mutations

21 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820605F5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820605F5

A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820605F5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820605F5

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820605F5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820605F5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820605F5

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820605F5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820605F5

A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820605F5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820605F5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820605F5

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820605F5

Detection of clinically relevant exonic copy-number changes by array CGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820605F5

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/10.1097%2FGIM.0B013E31820605F5

The three stages of epilepsy in patients with CDKL5 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820605F5

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820605F5

Chromosome instability is common in human cleavage-stage embryos.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820605F5

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820605F5

Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820605F5

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820605F5