Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation (Q24532056)

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

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instance of

scholarly article

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title

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

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author

Hans-Hilger Ropers

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14

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Maria Hoeltzenbein

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8

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Jozef Gécz

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15

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Niels Tommerup

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9

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Corinna Menzel

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7

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Vera M. Kalscheuer

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Vera M Kalscheuer

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1

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Grant R Sutherland

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13

object named as

Grant R Sutherland

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Jiong Tao

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2

object named as

Jiong Tao

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Eberhard Schwinger

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5

object named as

Eberhard Schwinger

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Sabine Kübart

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6

object named as

Sabine Kübart

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Eric Haan

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12

object named as

Eric Haan

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author name string

Andrew Donnelly

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3

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Georgina Hollway

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4

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Helen Eyre

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10

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Michael Harbord

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11

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language of work or name

English

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publication date

June 2003

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published in

American Journal of Human Genetics

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volume

72

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issue

6

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page(s)

1401-11

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cites work

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180301

retrieved

24 March 2017

Genomic structure and comparative analysis of nine Fugu genes: conservation of synteny with human chromosome Xp22.2-p22.1

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180301

retrieved

24 March 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180301

retrieved

24 March 2017

Molecular cloning of the epidermal growth factor-stimulated protein kinase p56 KKIAMRE

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180301

retrieved

24 March 2017

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180301

retrieved

24 March 2017

X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180301

retrieved

24 March 2017

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180301

retrieved

24 March 2017

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180301

retrieved

24 March 2017

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180301

retrieved

24 March 2017

Learning induces a CDC2-related protein kinase, KKIAMRE.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180301

retrieved

27 September 2017

X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180301

retrieved

27 September 2017

Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180301

retrieved

27 September 2017

Gene structure and subcellular localization of FMR2, a member of a new family of putative transcription activators

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180301

retrieved

27 September 2017

An improved PCR method for walking in uncloned genomic DNA.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180301

retrieved

27 September 2017

Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180301

retrieved

27 September 2017

Transcript map of a 900-kb genomic region in Xp22.1-p22.2: identification of 12 novel genes.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180301

retrieved

30 May 2018

Infantile spasms.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180301

retrieved

29 November 2018

Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X;autosome translocations

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180301

retrieved

29 November 2018

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180301

retrieved

29 November 2018

Identification of variants and dual promoters of murine serine/threonine kinase KKIAMRE.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180301

retrieved

29 November 2018

Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180301

retrieved

29 November 2018

The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180301

retrieved

29 November 2018

The Distribution and Biochemical Properties of a Cdc2‐Related Kinase, KKIALRE, in Normal and Alzheimer Brains

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180301

retrieved

29 November 2018

High resolution R- and G-banding on the same preparation

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12736870

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1086/375538

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

704116

OpenCitations bibliographic resource ID

704116

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

704116

PMC publication ID

1180301

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

704116

PubMed publication ID

12736870

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

704116

ResearchGate publication ID

10768725

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