(Q28246317)

11

object named as

Pawel Stankiewicz

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author name string

Ayelet Erez

1

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Amina J Patel

2

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Xueqing Wang

3

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Zhilian Xia

4

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William Craigen

6

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Sau Wai Cheung

7

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Richard A Lewis

8

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Ping Fang

9

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Sandra L H Davenport

10

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Seema R Lalani

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

12

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language of work or name

English

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publication date

October 2009

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published in

Neurogenetics

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volume

10

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issue

4

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page(s)

363-9

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cites work

1 reference

12 December 2020

Mechanisms for human genomic rearrangements

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

1 reference

12 December 2020

Alu repeats and human disease

1 reference

12 December 2020

Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

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

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12 December 2020

Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation

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12 December 2020

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

1 reference

12 December 2020

Key clinical features to identify girls with CDKL5 mutations

1 reference

12 December 2020

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

1 reference

12 December 2020

Characterization of interstitial Xp duplications in two families by tiling path array CGH

1 reference

12 December 2020